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Gene: Comt MGI:88470

Gene Summary

Name:

catechol-O-methyltransferase

Synonyms:

D16Wsu103e, Comt1, D330014B15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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	Allele	Zyg	Life Stage	P Value
decreased anxiety-related response	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.24×10^-08
decreased circulating fructosamine level	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.61×10^-11
decreased thigmotaxis	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-06
increased circulating alanine transaminase level	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.37×10^-05
increased grip strength	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	4.00×10^-08
abnormal behavior	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.59×10^-06
abnormal locomotor behavior	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	5.46×10^-06
hyperactivity	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	2.00×10^-06
decreased circulating serum albumin level	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	1.05×10^-07
decreased circulating total protein level	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	7.19×10^-05
increased circulating phosphate level	Comt^{tm1b(EUCOMM)Wtsi}	HOM	Early adult	8.85×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	Wholemount images	heterozygote	100% (2 of 2)
Aorta	Wholemount images	heterozygote	100% (2 of 2)
Bone	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Brown adipose tissue	Wholemount images	heterozygote	100% (2 of 2)
Cartilage tissue	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Esophagus	Wholemount images	heterozygote	100% (2 of 2)
Eye	Wholemount images	heterozygote	100% (2 of 2)
Gall bladder	Wholemount images	heterozygote	100% (2 of 2)
Heart	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Kidney	Wholemount images	heterozygote	100% (2 of 2)
Large intestine	Wholemount images	heterozygote	100% (2 of 2)
Liver	Wholemount images	heterozygote	100% (2 of 2)
Lower urinary tract	Wholemount images	heterozygote	100% (2 of 2)
Lung	Wholemount images	heterozygote	100% (2 of 2)
Lymph node	Wholemount images	heterozygote	100% (2 of 2)
Mammary gland	Wholemount images	heterozygote	50% (1 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Ovary	Wholemount images	heterozygote	50% (1 of 2)
Oviduct	Wholemount images	heterozygote	50% (1 of 2)
Pancreas	Wholemount images	heterozygote	100% (2 of 2)
Parathyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Peyer's patch	Wholemount images	heterozygote	100% (2 of 2)
Pituitary gland	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	50% (1 of 2)
Skeletal muscle	Wholemount images	heterozygote	100% (2 of 2)
Skin	Wholemount images	heterozygote	100% (2 of 2)
Small intestine	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Spleen	Wholemount images	heterozygote	100% (2 of 2)
Stomach	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thymus	Wholemount images	heterozygote	100% (2 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trachea	Wholemount images	heterozygote	100% (2 of 2)
Uterus	Wholemount images	heterozygote	50% (1 of 2)
Vascular system	Wholemount images	heterozygote	100% (2 of 2)
White adipose tissue	Wholemount images	heterozygote	50% (1 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	100% (2 of 2)
Ear	N/A	heterozygote	50% (1 of 2)
Ear	N/A	homozygote	50% (1 of 2)
Embryo	N/A	heterozygote	100% (2 of 2)
Embryo	N/A	homozygote	100% (2 of 2)
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	100% (2 of 2)
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	100% (2 of 2)
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	100% (2 of 2)
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	100% (2 of 2)
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	100% (2 of 2)
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	100% (2 of 2)
Heart	N/A	heterozygote	50% (1 of 2)
Heart	N/A	homozygote	50% (1 of 2)
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	100% (2 of 2)
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	100% (2 of 2)
Liver	N/A	heterozygote	50% (1 of 2)
Liver	N/A	homozygote	50% (1 of 2)
Lung	N/A	heterozygote	50% (1 of 2)
Lung	N/A	homozygote	50% (1 of 2)
Mandibular process	N/A	heterozygote	50% (1 of 2)
Mandibular process	N/A	homozygote	50% (1 of 2)
Maxillary process	N/A	heterozygote	50% (1 of 2)
Maxillary process	N/A	homozygote	50% (1 of 2)
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	100% (2 of 2)
Oral cavity	N/A	heterozygote	50% (1 of 2)
Oral cavity	N/A	homozygote	50% (1 of 2)
Skin	N/A	heterozygote	50% (1 of 2)
Skin	N/A	homozygote	50% (1 of 2)
Tail somite	N/A	heterozygote	50% (1 of 2)
Tail somite	N/A	homozygote	50% (1 of 2)
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	100% (2 of 2)

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

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

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

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

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

Associated Images

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

Adult LacZ

LacZ Images Wholemount

28 Images

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Echo

M-Mode Images

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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Immunophenotyping

Panel A FCS file(s)

7 Images

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Immunophenotyping

Panel B FCS file(s)

7 Images

View images

Human diseases caused by Comt 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 Comt (3 diseases)
Human diseases predicted to be associated with Comt (878 diseases)

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

Disease	Matching phenotypes	Source
Schizophrenia	Social and occupational deterioration	OMIM:181500
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypothyroidism, Hypop...	ORPHA:567
Panic Disorder 1		OMIM:167870

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

Disease	Matching phenotypes	Source
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Mania, Depression	OMIM:125480
7q11.23 duplication syndrome	Short attention span	DECIPHER:43
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Microangiopathy And Leukoencephalopathy, Pontine, Autosomal Dominant	Dementia, Cognitive impairment	OMIM:618564
Alzheimer Disease 10	Memory impairment, Dementia	OMIM:609636
Schizophrenia 19	Cognitive impairment	OMIM:617629
Deafness, Autosomal Recessive 70, With Or Without Adult-Onset Neurodegeneration	Cognitive impairment	OMIM:614934
Schizophrenia	Social and occupational deterioration	OMIM:181500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder	OMIM:617028
Hypoparathyroidism, Familial Isolated, 1	Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Citrullinemia Type Ii	Restlessness, Hyperactivity, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hyper...	ORPHA:247585
Enterokinase Deficiency	Hypoproteinemia	OMIM:226200
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	ORPHA:94124
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Steppage gait, Hypoalbuminemia, Ataxia	OMIM:607250
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Galactosemia I	Hemolytic anemia, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, A...	OMIM:230400
Schizophrenia 15	Hyperactivity	OMIM:613950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Gastritis, Familial Giant Hypertrophic	Hypoproteinemia	OMIM:137280
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Hypoalbuminemia, Hypermethioninemia	OMIM:613752
Autoimmune Hypoparathyroidism	Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seiz...	ORPHA:36913
Ménétrier Disease	Hypoproteinemia, Hypoalbuminemia, Anorexia	ORPHA:2494
Frasier Syndrome	Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I...	ORPHA:347
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia	OMIM:221400
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotei...	ORPHA:64753
Immunodeficiency 43	Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia	OMIM:241600
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Erythroderma, Lethal Congenital	Hypoalbuminemia	OMIM:227090
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia	OMIM:615863
Diarrhea 13	Hypoalbuminemia	OMIM:620357
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Glomerulopathy With Fibronectin Deposits 2	Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di...	OMIM:601894
Trimethylaminuria	Tachycardia, Trimethylaminuria, Splenomegaly, Depression, Hypertension, Neutropenia, Anemia	OMIM:602079
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Glomerulopathy With Fibronectin Deposits 1	Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru...	OMIM:137950
Hyperprolinemia, Type I	Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms	OMIM:239500
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Irritab...	OMIM:603553
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ...	OMIM:620056
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia	ORPHA:88643
Aplasia Cutis Congenita With Intestinal Lymphangiectasia	Hypoproteinemia	OMIM:207731
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Abnormal repetitive mannerisms, Paroxysmal bursts of laughter	OMIM:618347
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia	OMIM:256300
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Ataxia, Elevated circulating creatine kinase concentration, Limb ataxia, Gait ataxia, Hypoalbumin...	OMIM:208920
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Preeclampsia/Eclampsia 1	Hypertension, Proteinuria, Thrombocytopenia	OMIM:189800
Congenital Disorder Of Glycosylation, Type Ij	Hypoproteinemia, Aggressive behavior	OMIM:608093
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Lymphangiectasia, Intestinal	Neonatal hypoproteinemia	OMIM:152800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome	Hypoproteinemia	ORPHA:1116
Analbuminemia	Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat...	OMIM:616000
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista...	ORPHA:280356
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability, Hyperglycinemia	OMIM:605899
Focal Segmental Glomerulosclerosis 2	Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta...	OMIM:603965
Preeclampsia	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Elevated diastolic blood pressure...	ORPHA:275555
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Oligozoospermia, Azoospermia, Hypertension, Type...	OMIM:615703
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Nail-Patella-Like Renal Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria	ORPHA:2613
Genetic Recurrent Myoglobinuria	Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking	ORPHA:99845
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease...	ORPHA:730
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi...	ORPHA:90793
Proteinuria, Chronic Benign	Albuminuria, Renal insufficiency, Proteinuria	OMIM:618884
Nephrotic Syndrome, Type 7	Hypoalbuminemia	OMIM:615008
Nephrotic Syndrome, Type 22	Hypoproteinemia	OMIM:619155
Renal Failure, Progressive, With Hypertension	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Microscopic hemat...	OMIM:161900
Iga Nephropathy, Susceptibility To, 2	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:613944
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Primary Membranoproliferative Glomerulonephritis	Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ...	ORPHA:54370
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Renal insufficiency, Proteinuria, Howell-Jolly bodies,...	ORPHA:85443
Lessel-Kubisch Syndrome	Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia	OMIM:618681
Focal Segmental Glomerulosclerosis 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi...	OMIM:613237
Congenital Analbuminemia	Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia	ORPHA:86816
Iga Nephropathy, Susceptibility To, 3	Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,...	OMIM:616818
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis	OMIM:607832
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Hartnup Disorder	Episodic ataxia, Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Hyperlysinemia, Type I	Hyperactivity, Hyperlysinemia	OMIM:238700
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia	OMIM:603278
Chylomicron Retention Disease	Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia	OMIM:246700
Congenital Lethal Erythroderma	Hypoalbuminemia	ORPHA:1954
Alg6-Cdg	Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia	ORPHA:79320
Congenital Enterocyte Heparan Sulfate Deficiency	Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy...	ORPHA:103910
Triokinase And Fmn Cyclase Deficiency Syndrome	Broad-based gait, Hypoalbuminemia	OMIM:618805
Fibronectin Glomerulopathy	Hypoalbuminemia	ORPHA:84090
Ataxia-Oculomotor Apraxia 4	Hypercholesterolemia, Ataxia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration	OMIM:616267
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Coproporphyria, Hereditary	Tachycardia, Splenomegaly, Depression, Hypertension, Increased urinary porphobilinogen, Elevated ...	OMIM:121300
Pseudohypoparathyroidism Type 1B	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypoc...	ORPHA:94089
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Abnormal fear-induced behavior, Inappropriate behavior, Cognitive i...	ORPHA:309246
Immunodeficiency 27A	Hypoalbuminemia, Anorexia	OMIM:209950
Galloway-Mowat Syndrome 8	Hypoalbuminemia	OMIM:618349
Senior-Loken Syndrome	Premature ovarian insufficiency, Chronic kidney disease, Stage 5 chronic kidney disease, Hyperten...	ORPHA:3156
Maternally-Inherited Diabetes And Deafness	Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II...	ORPHA:225
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Decreased circulating cortisol level, Premature thelarche, Renal salt wasting, Ambiguous genitali...	ORPHA:90795
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Hypoproteinemia, Hypoalbuminemia	OMIM:226300
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Proteinuria, Cryptorchidism, Nephrotic syndrome, Hypertension, Type I diabetes mellitus, Nephropa...	ORPHA:1192
Lipoprotein Glomerulopathy	Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity	OMIM:611771
Adrenocortical Carcinoma	Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ...	ORPHA:1501
Phenylketonuria	Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Hyperphenylalaninemia, Depres...	OMIM:261600
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Minimal change glomerulonephritis, Pulmonary embolism, Chronic kidney disease, Stage 5 chronic ki...	ORPHA:567546
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyperkalemia, H...	ORPHA:94093
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig...	OMIM:610489
Dengue Fever	Hypoproteinemia	ORPHA:99828
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Progressive Supranuclear Palsy	Dystonia, Impulsivity, Tremor, Unsteady gait, Abnormal synaptic transmission, Depression, Blephar...	ORPHA:683
Iga Nephropathy, Susceptibility To, 1	Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i...	OMIM:161950
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ...	ORPHA:26793
Pancreatic insufficiency, combined exocrine	Hypoproteinemia	OMIM:260450
Leishmaniasis	Hypoalbuminemia, Anorexia	ORPHA:507
Autosomal Dominant Hypocalcemia	Depression, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Emotional lability	ORPHA:428
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Autoimmune Disease, Multisystem, Infantile-Onset, 2	Impaired lymphocyte transformation with phytohemagglutinin, Increased CD4:CD8 ratio, Proteinuria,...	OMIM:617006
Frasier Syndrome	Proteinuria, Male pseudohermaphroditism, Stage 5 chronic kidney disease, Primary amenorrhea, Foca...	OMIM:136680
Autoinflammation With Infantile Enterocolitis	Increased circulating ferritin concentration, Hypoalbuminemia, Elevated circulating C-reactive pr...	OMIM:616050
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors	OMIM:301107
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hyperactivity, Hypertriglyceridemia, Ataxia	OMIM:615924
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia	OMIM:612716
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Eosinophilic Gastroenteritis	Hypoalbuminemia, Elevated circulating C-reactive protein concentration, Dysphagia	ORPHA:2070
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities	Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:614199
Idiopathic Non-Lupus Full-House Nephropathy	Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat...	ORPHA:567544
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Pseudohypoparathyroidism Type 1C	Calcinosis, Depression, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Polyp...	ORPHA:79444
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Renal Hypodysplasia/Aplasia 1	Renal dysplasia, Proteinuria, Primary amenorrhea, Hypertension, Bicornuate uterus, Bilateral rena...	OMIM:191830
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Lipodystrophy, Partial, Acquired, Susceptibility To	Diabetes mellitus, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ovaries, Hem...	OMIM:608709
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Coronary Artery Disease, Autosomal Dominant, 1	Hypertension, Diabetes mellitus, Myocardial infarction	OMIM:608320
Denys-Drash Syndrome	Proteinuria, Male pseudohermaphroditism, Hypertension, Nephrotic syndrome, Gonadal dysgenesis, Ne...	ORPHA:220
C3 Glomerulopathy	Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext...	ORPHA:329918
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Cednik Syndrome	Congestive heart failure, Nephrotic syndrome, Hypogonadism, Proteinuria	ORPHA:66631
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Lacunar stroke, Hypertension, Transient ischemic attack	OMIM:616779
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Amyloidosis, Familial Visceral	Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy	OMIM:105200
Hyperprolinemia Type 1	Nephropathy, Proteinuria, Prolinuria	ORPHA:419
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Pseudohypoparathyroidism Type 1A	Calcinosis, Depression, Choreoathetosis, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalce...	ORPHA:79443
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased circulating cor...	OMIM:615962
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hypertriglyceridemia, Hypoalbuminemia	OMIM:619013
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Lead Poisoning	Decreased female libido, Anorexia, Abnormality of the menstrual cycle, Increased circulating IgE ...	ORPHA:330015
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re...	OMIM:617610
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:610947
Moyamoya Disease 6 With Or Without Achalasia	Raynaud phenomenon, Hypertension, Impotence, Ischemic stroke, Dysphagia, Thrombocytopenia	OMIM:615750
Johanson-Blizzard Syndrome	Hypoproteinemia	ORPHA:2315
Nephrotic Syndrome, Type 17	Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema...	OMIM:618176
Nephrotic Syndrome, Type 23	Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome...	OMIM:619201
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Systemic Sclerosis	Pericarditis, Renal insufficiency, Proteinuria, Nail bed telangiectasia, Glomerulonephritis, Righ...	ORPHA:90291
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol...	OMIM:604367
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating copper concentration, Decreased circulating ceruloplasmin concentration, Hy...	OMIM:242150
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Increased circulating IgG level, Tubu...	ORPHA:449395
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypospadias, Adrenal hypoplasia, Cryptorchidism, Aminoaciduria, Albuminuria, Dysphagia, Renal cor...	OMIM:214100
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc...	OMIM:102200
Potocki-Shaffer Syndrome	Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism, Anemia	ORPHA:52022
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Familial Partial Lipodystrophy, Köbberling Type	Hypertension, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries	ORPHA:79084
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Focal Segmental Glomerulosclerosis 7	Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis...	OMIM:616002
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hypoproteinemia, Elevated circulating creatine kinase concentration	OMIM:615895
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Abnormal response to corticotropin releasing hormone stimulatio...	ORPHA:189427
Cystinosis	Hypokalemia, Gait disturbance, Hypophosphatemia, Polydipsia, Abnormal repetitive mannerisms	ORPHA:213
Aapoaiv Amyloidosis	Atrial flutter, Diabetes mellitus, Abnormal cardiac ventricular function, Atrial fibrillation, Ca...	ORPHA:439232
Nephrotic Syndrome, Type 18	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:618177
Nephrotic Syndrome, Type 19	Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan...	OMIM:618178
Nephrotic Syndrome, Type 20	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch...	OMIM:301028
46,Xy Sex Reversal 11	Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ...	OMIM:273250
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance	OMIM:618090
Succinic Semialdehyde Dehydrogenase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Elevated circulating gamma-a...	OMIM:271980
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Focal Segmental Glomerulosclerosis 8	Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease	OMIM:616032
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Pure Autonomic Failure	Orthostatic hypotension, Urinary incontinence, Dysuria, Impotence, Syncope, Abnormality of circul...	ORPHA:441
Reni Syndrome	Hypertriglyceridemia, Hypoalbuminemia, Ataxia	OMIM:617575
Lymphoproliferative Syndrome, X-Linked, 1	Hypoalbuminemia, Elevated circulating C-reactive protein concentration	OMIM:308240
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Emotional lability, Telangiectases producing 'marbled' skin	OMIM:206570
Chédiak-Higashi Syndrome	Hyponatremia, Hypertriglyceridemia, Ataxia, Increased circulating ferritin concentration, Inabili...	ORPHA:167
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Hypoparathyroidism, Proteinuria, Septate vagina, Chronic kidney disease, Proximal renal tubular a...	OMIM:146255
Myh9-Related Disease	Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Increa...	ORPHA:182050
Riboflavin Transporter Deficiency	Aggressive behavior, Hypertension, Hypogonadism, Dysphagia, Diabetes insipidus	ORPHA:97229
Wagro Syndrome	Decreased testicular size, Proteinuria, Aggressive behavior, Hypertension, Agitation, Low frustra...	OMIM:612469
Omenn Syndrome	Hypoproteinemia	OMIM:603554
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Male pseudohermaphroditism, Adrenogenital syndrome, Primary amenorrhea, Hype...	OMIM:202110
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension, Polyphagia, Hyperinsulinemia, Type II diabetes mellitus	ORPHA:71529
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Pigmented Nodular Adrenocortical Disease, Primary, 2	Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame...	OMIM:610475
Nephrotic Syndrome, Type 16	Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis	OMIM:617783
Adenine Phosphoribosyltransferase Deficiency	Renal insufficiency, Atrial fibrillation, Proteinuria, Dysuria, Recurrent urinary tract infection...	ORPHA:976
S-Adenosylhomocysteine Hydrolase Deficiency	Elevated circulating creatine kinase concentration, Abnormal circulating homocysteine concentrati...	ORPHA:88618
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Mpi-Cdg	Hypoalbuminemia	ORPHA:79319
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa...	OMIM:308990
Juvenile Huntington Disease	Hyperactivity, Broad-based gait, Ataxia, Gait ataxia, Depression, Irritability, Progressive cereb...	ORPHA:248111
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Hypoalbuminemia	OMIM:608104
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Gait ataxia, Unsteady gait, Hypoalbuminemia, Dysphagia	OMIM:254900
Hereditary Amyloidosis With Primary Renal Involvement	Tubulointerstitial nephritis, Nephropathy, Decreased glomerular filtration rate, Tubulointerstiti...	ORPHA:85450
Pparg-Related Familial Partial Lipodystrophy	Diabetes mellitus, Dysmenorrhea, Maternal diabetes, Congestive heart failure, Insulin-resistant d...	ORPHA:79083
Atypical Hemolytic Uremic Syndrome	Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia	ORPHA:2134
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Waddli...	ORPHA:157215
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, D...	ORPHA:136
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Schimke Immunoosseous Dysplasia	Renal insufficiency, Pancytopenia, Transient ischemic attack, Proteinuria, Abnormal immunoglobuli...	OMIM:242900
Immunodeficiency, Common Variable, 6	Glomerulonephritis, Nephrotic range proteinuria, Autoimmune thrombocytopenia, Stage 5 chronic kid...	OMIM:613496
Hematuria, Benign Familial, 2	Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology	OMIM:620320
Lipodystrophy, Familial Partial, Type 4	Hypertension, Insulin-resistant diabetes mellitus, Oligomenorrhea	OMIM:613877
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Difficulty walking, Hyperbilirubinemia	ORPHA:1667
Congenital Enterovirus Infection	Irritability, Hypoalbuminemia, Hyperammonemia	ORPHA:292
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h...	ORPHA:280679
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Decreased serum iron, Depression, Decreased circulating carnitine concentration, Decreased serum ...	ORPHA:89842
Immunodeficiency 32B	Hypoalbuminemia	OMIM:226990
Porphyria Due To Ala Dehydratase Deficiency	Hyponatremia, Restlessness, Abnormal fear-induced behavior, Abnormal circulating porphyrin concen...	ORPHA:100924
Guanidinoacetate Methyltransferase Deficiency	Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis	ORPHA:382
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Increased circulating interleukin 6 concentration, Proteinuria, Epistaxis, Diff...	OMIM:614034
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ...	OMIM:171400
Lipodystrophy, Familial Partial, Type 5	Decreased adiponectin level, Decreased serum leptin, Irregular menstruation, Diabetic ketoacidosi...	OMIM:615238
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Hypoalbuminemia	OMIM:614441
Macrophage Activation Syndrome	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia, Elevated cir...	ORPHA:158061
Rhabdoid Tumor	Renal neoplasm, Hematuria, Hypertension, Anemia, Irritability, Internal hemorrhage, Thrombocytopenia	ORPHA:69077
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Microangiopa...	ORPHA:54057
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce...	OMIM:611555
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Abnormal left ventri...	OMIM:540000
Non-Functioning Paraganglioma	Paraganglioma of head and neck, Cerebral hemorrhage, Elevated urinary norepinephrine level, Conge...	ORPHA:94080
Renal Nutcracker Syndrome	Dyspareunia, Orthostatic hypotension, Tachycardia, Proteinuria, Dysmenorrhea, Vulval varicose vei...	ORPHA:71273
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypoplasia of the vagina, Clitoral hypertrophy, Congenital adrenal hyperplasia, Decreased circula...	OMIM:202010
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism...	OMIM:618718
Generalized Pustular Psoriasis	Hyponatremia, Hypoalbuminemia, Hypocalcemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr...	ORPHA:525731
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension	OMIM:201910
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Bilateral renal a...	OMIM:166300
Uremic Pruritus	Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen	ORPHA:94059
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hypoalbuminemia	OMIM:617021
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Depression, Hypertens...	OMIM:615954
Acquired Partial Lipodystrophy	Glomerulopathy, Microscopic hematuria, Proteinuria, Lymphocytosis	ORPHA:79087
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	OMIM:264700
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Liddle Syndrome	Renal insufficiency, Hypertension, Cerebral ischemia, Nephropathy, Arrhythmia	ORPHA:526
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c...	OMIM:300845
Congenital Disorder Of Glycosylation, Type Ib	Hypoalbuminemia	OMIM:602579
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Increased circulating interferon-gamma concent...	ORPHA:563
Aicardi-Goutieres Syndrome 9	Irritability, Hypoalbuminemia, Self-mutilation	OMIM:619487
Leydig Cell Hypoplasia	Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos...	ORPHA:755
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Avian Influenza	Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react...	ORPHA:454836
Bardet-Biedl Syndrome	Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Hypertension, Nephrotic syndro...	ORPHA:110
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Anorexia, Large vessel vasculitis, Retrograde ejaculation, Hashimoto thyroidit...	ORPHA:49041
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Partial Androgen Insensitivity Syndrome	Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ...	ORPHA:90797
Caudal Regression Syndrome	Ureteral duplication, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Maternal diabetes...	ORPHA:3027
Sporadic Pheochromocytoma/Secreting Paraganglioma	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Cerebral hemorrhage, ...	ORPHA:276621
Exercise-Induced Malignant Hyperthermia	Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo...	ORPHA:466650
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation	OMIM:615516
Tsh-Secreting Pituitary Adenoma	Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis...	ORPHA:91347
Schimke Immuno-Osseous Dysplasia	Lymphopenia, Transient ischemic attack, Abnormality of thyroid physiology, Proteinuria, Minimal c...	ORPHA:1830
Oligomeganephronia	Branchial cyst, Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bil...	ORPHA:2260
Nephrolithiasis, X-Linked Recessive, With Renal Failure	Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P...	OMIM:310468
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal...	ORPHA:251274
Hemorrhagic Fever-Renal Syndrome	Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Agitation	ORPHA:340
Alport Syndrome	Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Cli...	ORPHA:63
Denys-Drash Syndrome	Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue...	OMIM:194080
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Complete Androgen Insensitivity Syndrome	Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l...	ORPHA:99429
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Nephronophthisis 1	Polyuria, Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension,...	OMIM:256100
Vitamin D-Dependent Rickets, Type 2A	Irritability, Difficulty walking, Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Familial Hemophagocytic Lymphohistiocytosis	Increased circulating ferritin concentration, Hypertriglyceridemia, Hypoalbuminemia	ORPHA:540
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammatory arteriopa...	ORPHA:31825
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Broad-based gait, Ataxia, Decreased LDL cholesterol conc...	ORPHA:14
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Depression, Hypertension, Increase...	OMIM:219080
Fanconi Renotubular Syndrome 5	Proteinuria, Stage 5 chronic kidney disease, Hypertension, Aminoaciduria, Glycosuria, Tubulointer...	OMIM:618913
Prader-Willi Syndrome	Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia...	ORPHA:739
Coenzyme Q10 Deficiency, Primary, 1	Pancytopenia, Hypergonadotropic hypogonadism, Recurrent myoglobinuria, Proteinuria, Nephrotic syn...	OMIM:607426
Alstrom Syndrome	Renal insufficiency, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimula...	OMIM:203800
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Diabetes mellitus, Hyperthyroidism, Aggressive behavior, Hypothyroidism, Depressio...	ORPHA:449291
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Raynaud phenomenon, Punctate vasculi...	ORPHA:247691
Stiff Person Spectrum Disorder	Emotional lability, Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Hypoalbuminemia	ORPHA:367
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Stage 5 chronic kidney disease,...	OMIM:612925
Tay-Sachs Disease	Psychomotor deterioration, Exaggerated startle response, Dementia	OMIM:272800
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Myocardial infarction, Mesangial hypercellularity, Parap...	ORPHA:91139
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Takayasu Arteritis	Myocardial infarction, Anorexia, Vasculitis, Anemia, Hypertension, Cerebral ischemia, Pulmonary a...	ORPHA:3287
Cystic Hamartoma Of Lung And Kidney	Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ...	OMIM:613092
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Diarrhea 10, Protein-Losing Enteropathy Type	Hyponatremia, Hypertriglyceridemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia	OMIM:618183
Hereditary Pheochromocytoma-Paraganglioma	Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, P...	ORPHA:29072
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Abnorma...	ORPHA:320
Aa Amyloidosis	Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Adrenal insuf...	ORPHA:85445
Familial Cervical Artery Dissection	Diabetes mellitus, Transient ischemic attack, Subarachnoid hemorrhage, Recurrent cerebral hemorrh...	ORPHA:36382
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu...	OMIM:610205
Sickle Cell Disease	Hemolytic anemia, Renal insufficiency, Splenomegaly, Leukocytosis, Splenic infarction, Hematuria,...	OMIM:603903
Mucopolysaccharidosis-Plus Syndrome	Inability to walk, Hypoalbuminemia	OMIM:617303
Fabry Disease	Renal insufficiency, Transient ischemic attack, Angina pectoris, Myocardial infarction, Proteinur...	OMIM:301500
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypomagnesemia, Hyperactivity, Hypokalemia, Self-biting	OMIM:618314
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease	OMIM:614455
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis	Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria	OMIM:613913
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Proteinuria, Abnormality of the kidney, Irritability, Delayed puberty, Hypertrophic cardiomyopathy	ORPHA:369
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171420
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Difficulty walking, Hypophosphatemia	OMIM:600081
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612926
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Donnai-Barrow Syndrome	Umbilical hernia, Bicornuate uterus, Proteinuria, Abnormality of the uterus	ORPHA:2143
Eosinophilic Granulomatosis With Polyangiitis	Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Transient ischemic atta...	ORPHA:183
Coenzyme Q10 Deficiency, Primary, 6	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ...	OMIM:614650
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hyperactivity, Hypoalbuminemia	OMIM:235510
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Fused labia majora, Decreased circulating cortisol level, Renal salt wasting, Ambiguous genitalia...	ORPHA:90794
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior	OMIM:620023
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anuria, Proteinuria, Hemolytic-uremic syndrome, Thrombocytopenia, Hematuria, Hypertension, Microa...	OMIM:612924
Hypocalcemic Vitamin D-Dependent Rickets	Irritability, Hypocalcemia, Difficulty walking, Hypophosphatemia, Hypocalcemic seizures	ORPHA:289157
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Difficulty walking, Hypopho...	OMIM:241530
Autoinflammatory-Pancytopenia Syndrome	Pancytopenia, Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly, Granulom...	OMIM:619858
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypophosphatemia, Hypermagnesemia, Hypercalcemia, Depression	OMIM:600740
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Isolated Permanent Neonatal Diabetes Mellitus	Ketonuria, Neonatal insulin-dependent diabetes mellitus, Abnormality of the upper urinary tract, ...	ORPHA:99885
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat...	ORPHA:95699
Galloway-Mowat Syndrome 5	Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ...	OMIM:617731
Hyperparathyroidism, Neonatal Severe	Calcinosis, Polydipsia, Hypercalcemia, Hypophosphatemia	OMIM:239200
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:203780
Systemic Lupus Erythematosus 17	Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati...	OMIM:301080
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Hypernatremia, Hypoalbuminemia	OMIM:615508
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Nephronophthisis 18	Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer...	OMIM:615862
Pigmented Nodular Adrenocortical Disease, Primary, 4	Diabetes mellitus, Adrenal hyperplasia, Depression, Hypertension, Increased circulating cortisol ...	OMIM:615830
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Sneddon Syndrome	Cerebral hemorrhage, Decreased circulating total IgM, Hypertension, Ischemic stroke, Lymphopenia	OMIM:182410
Galloway-Mowat Syndrome 2, X-Linked	Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom...	OMIM:301006
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Pituitary Adenoma 4, Acth-Secreting	Pituitary adenoma, Nephrolithiasis, Increased circulating ACTH level, Hypertension, Oligomenorrhe...	OMIM:219090
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Optic Atrophy 11	Hyperactivity, Ataxia, Gait apraxia, Dysmetria, Athetosis, Stereotypical body rocking, Attention ...	OMIM:617302
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors	ORPHA:101039
Congenital Disorder Of Glycosylation, Type Ia	Ataxia, Hypoalbuminemia, Dysmetria, Hypocholesterolemia	OMIM:212065
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension, Thrombocytopenia	ORPHA:401945
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Prolonged QTc...	ORPHA:90065
Corticosteroid-Binding Globulin Deficiency	Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypotension, Anemia	OMIM:611489
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hyperaldosteronism, Polydipsia, Decr...	OMIM:613677
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension...	ORPHA:403
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Nephrolithiasis, Intracranial hemorrh...	ORPHA:369929
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Anti-Glomerular Basement Membrane Disease	Glomerulopathy, Renal insufficiency, Proteinuria, Vasculitis, Hematuria, Anemia	ORPHA:375
Nephronophthisis 2	Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Hypertension, ...	OMIM:602088
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Abnormal circulating albumin concentration	ORPHA:86839
Lecithin:Cholesterol Acyltransferase Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia	OMIM:245900
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Hypoalbuminemia, Elevated circulatin...	ORPHA:36234
Pituitary Apoplexy	Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci...	ORPHA:95613
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Diabetes mellitus, Small scrotum, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mode...	OMIM:614231
Ganglioneuroma	Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Hypertension, Abnormality of the adre...	ORPHA:251992
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Inability to walk, Exaggerated startle response, Irritability, Short attention span	OMIM:617864
Nephronophthisis 13	Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Pancrea...	OMIM:614377
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the...	OMIM:103900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Hypertension, Tachycardia, Agitation, Micropenis	OMIM:613870
Pseudo-Torch Syndrome 3	Proteinuria, Cerebral hemorrhage, Leukocytosis, Hypertension, Acute kidney injury, Congenital thr...	OMIM:618886
Werner Syndrome	Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Congestive heart failure, Decr...	ORPHA:902
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Hypoalbuminemia, Elevated circulating creatine kinase concentration	OMIM:619055
Hemophagocytic Syndrome Associated With An Infection	Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia, Ataxia	ORPHA:158048
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Combined Oxidative Phosphorylation Deficiency 37	Hyperalaninemia, Hypoalbuminemia	OMIM:618329
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia	OMIM:174900
Glutaric Aciduria Iii	Hypertension, Glutaric aciduria, Hyperthyroidism, Goiter	OMIM:231690
Renal Agenesis	Renal insufficiency, Absent vas deferens, Proteinuria, Renal agenesis, Unilateral renal agenesis,...	ORPHA:411709
Hypocalcemic Vitamin D-Resistant Rickets	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:93160
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Phosphoribosylpyrophosphate Synthetase Superactivity	Hypertension, Arrhythmia, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h...	ORPHA:231580
Severe Neurodegenerative Syndrome With Lipodystrophy	Hypertension, Hyperactivity, Hyperinsulinemia	ORPHA:363400
Paternal Uniparental Disomy Of Chromosome 1	Membranoproliferative glomerulonephritis, Proteinuria, Hypertension, Macroscopic hematuria, Episo...	ORPHA:251004
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation	OMIM:616733
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor...	OMIM:608643
Morgagni-Stewart-Morel Syndrome	Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Depress...	ORPHA:77296
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Senior-Boichis Syndrome	Thickening of the tubular basement membrane, Portal hypertension, Aggressive behavior, Chronic ki...	ORPHA:84081
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne...	ORPHA:231625
Multiple Endocrine Neoplasia Type 1	Anorexia, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic e...	ORPHA:652
Fanconi Renotubular Syndrome 2	Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast...	OMIM:613388
Cholestasis, Progressive Familial Intrahepatic, 12	Splenomegaly, Proteinuria	OMIM:620010
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Salt craving, Polyuria, Renal salt wasting, Hypertension, Enuresis, Hyperaldosteronism, Increased...	OMIM:612780
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Neuroblastoma, Susceptibility To, 1	Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec...	OMIM:256700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Abnormal blood ion concentration, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased prealb...	ORPHA:37042
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Pulmonary embolism, Hemoglobinuria, Leukopenia, Renal Fanconi syndrome, Er...	ORPHA:447
Tetanus	Tachycardia, Elevated urinary norepinephrine level, Elevated urinary epinephrine level, Hypertens...	ORPHA:3299
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ...	OMIM:619428
Alport Syndrome 3A, Autosomal Dominant	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S...	OMIM:104200
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Renal Cysts And Diabetes Syndrome	Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ...	OMIM:137920
Imerslund-Grasbeck Syndrome 1	Microscopic hematuria, Proteinuria, Megaloblastic anemia	OMIM:261100
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, My...	ORPHA:892
Wild Type Attr Amyloidosis	Abnormal EKG, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive heart failure, ...	ORPHA:330001
Cryoglobulinemia, Familial Mixed	Proteinuria, Chronic kidney disease, Hematuria, Hypertension, Abnormal renal physiology	OMIM:123550
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Hypertension, Anterior hypopituitarism	ORPHA:181
Ethylene Glycol Poisoning	Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Cyanosis, Co...	ORPHA:31826
Alport Syndrome 1, X-Linked	Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, S...	OMIM:301050
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti...	ORPHA:289548
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Sex reversal, Incre...	ORPHA:168558
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Neuraminidase Deficiency	Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cells, Increased ...	OMIM:256550
Fragile X-Associated Tremor/Ataxia Syndrome	Dysphagia, Depression, Hypertension, Impotence, Pollakisuria, Hypotension, Compulsive behaviors, ...	ORPHA:93256
Oncogenic Osteomalacia	Gait disturbance, Hypocalcemia, Hypophosphatemia	ORPHA:352540
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Increased circulating IgG leve...	ORPHA:99827
Alg12-Cdg	Hyponatremia, Hypoalbuminemia, Hypocholesterolemia	ORPHA:79324
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Portal hypertension, Unilateral renal agenesis, Splenomeg...	OMIM:216360
Mullerian Aplasia And Hyperandrogenism	Abnormal external genitalia, Unilateral renal agenesis, Increased circulating dehydroepiandroster...	OMIM:158330
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Increased circulating IgE level	OMIM:616069
Diffuse Cutaneous Systemic Sclerosis	Dyspareunia, Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Oliguria,...	ORPHA:220393
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Thrombocyto...	OMIM:603585
Arterial Calcification, Generalized, Of Infancy, 2	Tricuspid regurgitation, Myocardial infarction, Congestive heart failure, Nephrocalcinosis, Hyper...	OMIM:614473
Metaphyseal Chondrodysplasia, Jansen Type	Waddling gait, Hypercalcemia, Hypophosphatemia	OMIM:156400
Postorgasmic Illness Syndrome	Hypertension, Irritability, Palpitations, Depression	ORPHA:279947
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:404
Imerslund-Grasbeck Syndrome 2	Proteinuria, Megaloblastic anemia	OMIM:618882
Amoebiasis Due To Entamoeba Histolytica	Hypoalbuminemia	ORPHA:67
Pierson Syndrome	Hypoproteinemia	OMIM:609049
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
X-Linked Creatine Transporter Deficiency	Hyperactivity, Ataxia, Abnormal circulating creatine concentration, Athetosis, Self-mutilation	ORPHA:52503
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Hydronephrosis, Type I diabetes mellitus	OMIM:619269
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombocytopenia, Chr...	OMIM:613845
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Galloway-Mowat Syndrome 1	Hypoalbuminemia, Ataxia	OMIM:251300
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Ectopic Aldosterone-Producing Tumor	Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica...	ORPHA:231632
Acute Intermittent Porphyria	Dark urine, Restlessness, Tachycardia, Renal insufficiency, Urinary incontinence, Dysuria, Porphy...	ORPHA:79276
Multiple Myeloma	Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia	ORPHA:29073
Porphyria, Acute Intermittent	Tachycardia, Dysuria, Urinary incontinence, Depression, Hypertension, Urinary retention, Elevated...	OMIM:176000
Xfe Progeroid Syndrome	Hypoalbuminemia	OMIM:610965
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure	ORPHA:1349
Acquired Generalized Lipodystrophy	Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Abnormal cardiovascular syste...	ORPHA:79086
Erythrocytosis, Familial, 1	Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo...	OMIM:133100
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Proteinuria, Hyperinsulinemia, Glycosuria, Renal Fanconi syndrome, Pancreatic islet-...	ORPHA:263455
Martin-Probst Syndrome	Bifid scrotum, Renal insufficiency, Pancytopenia, Proteinuria, Cryptorchidism, Telangiectasia, Ch...	OMIM:300519
Galloway-Mowat Syndrome 3	Hypoalbuminemia	OMIM:617729
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Dystonia, Tremor, Inability to walk, Dysmetri...	ORPHA:845
Porphyria Variegata	Tachycardia, Neurogenic bladder, Chronic kidney disease, Porphyrinuria, Hypertension, Increased u...	ORPHA:79473
Joubert Syndrome 14	Encephalocele, Meningocele, Renal cyst, Intracranial hemorrhage, Hypertension, Irritability	OMIM:614424
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D...	OMIM:618061
Stiff Skin Syndrome	Nephrolithiasis, Hypertension, Type II diabetes mellitus	ORPHA:2833
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Trichohepatoenteric Syndrome 1	Hypermethioninemia, Increased serum iron, Hypoalbuminemia, Abnormality of iron homeostasis	OMIM:222470
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2	Hypospadias, Cryptorchidism, Hypertension, 3-Methylglutaconic aciduria, Arrhythmia, Umbilical her...	OMIM:614052
Cushing Syndrome Due To Ectopic Acth Secretion	Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the...	ORPHA:99889
Hyperaldosteronism, Familial, Type Iv	Hypertension, Hyperaldosteronism	OMIM:617027
Lipodystrophy, Familial Partial, Type 1	Hypertension, Insulin-resistant diabetes mellitus	OMIM:608600
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Anorexia, Atrioventricular block, Nephropathy, ...	ORPHA:324
Dent Disease	Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k...	ORPHA:1652
Gaisböck Syndrome	Hypertriglyceridemia, Hyperproteinemia, Increased circulating renin level, Hyperuricemia, Hyperch...	ORPHA:90041
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Hypertension, Glomerular sclerosis, Emotional lability, Acr...	OMIM:223900
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Proteinuria, Myocardial infarction, Di...	ORPHA:90068
Beta-Ketothiolase Deficiency	Ketonuria, Anorexia, Leukocytosis, Hypertension, Agitation, Oral aversion, Hypotension, Thrombocy...	ORPHA:134
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Broad-based gait, Exaggerated startle response, Ataxia, Dystonia	ORPHA:438216
Alagille Syndrome	Telangiectasia of the skin, Renal hypoplasia/aplasia, Cryptorchidism, Abnormality of the ureter, ...	ORPHA:52
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Dilated cardiomyopat...	OMIM:618348
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Glomerulopathy, Renal insufficiency, Hyperparathyroidism, Proteinuria, Anemia	ORPHA:2668
Pheochromocytoma	Tachycardia, Proteinuria, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestive ...	OMIM:171300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Inability to walk, Hypoalbuminemia	ORPHA:505248
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Depression	OMIM:620114
Marburg Hemorrhagic Fever	Elevated circulating creatine kinase concentration, Hyperamylasemia, Anorexia, Aggressive behavio...	ORPHA:99826
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Hypertension, Umbilical hernia, Renal hypoplasia, Absence of renal corticomedullary differentiation	OMIM:619758
Gitelman Syndrome	Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti...	ORPHA:358
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Vaginal dryness, Dysuria, Anorexia, Oral-pharyngeal dysphagia, Renal t...	ORPHA:95455
Nelson Syndrome	Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre...	ORPHA:199244
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Decreased cir...	OMIM:215250
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Proteinuria, Epistaxis, Chronic neutropenia, Irregular menstruation, Thyroiditis, Stage 5 chronic...	ORPHA:79259
Paroxysmal Hemicrania	Hypertension, Restless legs, Diabetes mellitus	ORPHA:157835
Infantile Nephropathic Cystinosis	Polydipsia, Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Diffuse Alveolar Hemorrhage	Proteinuria, Thrombocytopenia, Leukocytosis, Hematuria, Hypoxemia, Pulmonary venous hypertension,...	ORPHA:90060
Galloway-Mowat Syndrome 4	Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d...	OMIM:617730
Legionnaires Disease	Pericarditis, Renal insufficiency, Proteinuria, Anorexia, Myocarditis, Splenomegaly, Hematuria, H...	ORPHA:549
Stiff-Person Syndrome	Tachycardia, Diabetes mellitus, Depression, Hypertension, Anemia	OMIM:184850
Postinfectious Vasculitis	Cerebral vasculitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, A...	ORPHA:48435
Galloway-Mowat Syndrome 10	Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Congenital hypothyroidi...	OMIM:619609
Melas	Hypoparathyroidism, Wolff-Parkinson-White syndrome, Diabetes mellitus, Hypogonadotropic hypogonad...	ORPHA:550
Serotonin Syndrome	Restlessness, Tachycardia, Hypertension, Irritability, Agitation, Hypotension, Acute kidney injury	ORPHA:43116
Insulin-Resistance Syndrome Type B	Enlarged ovaries, Proteinuria, Increased circulating IgA level, Abnormal circulating leptin conce...	ORPHA:2298
Lipodystrophy, Familial Partial, Type 6	Hypertension, Diabetes mellitus	OMIM:615980
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hyperaldosteronism, Familial, Type Ii	Hypertension, Hyperaldosteronism	OMIM:605635
Grange Syndrome	Aortic regurgitation, Hypertension	ORPHA:79094
Distal 16P11.2 Microdeletion Syndrome	Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Attention deficit...	ORPHA:261222
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Dark urine, Tachycardia, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney ...	ORPHA:368
Secondary Intestinal Lymphangiectasia	Reduced circulating transferrin concentration, Decreased prealbumin level, Hypoalbuminemia, Hypoc...	ORPHA:90363
Argininemia	Hyperactivity, Anorexia, Hyperammonemia, Irritability, Hyperargininemia, Spastic gait	OMIM:207800
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Reticulocytosis, Exercise-induced myoglobinuria, Erythroid...	OMIM:300653
Methylcobalamin Deficiency Type Cble	Glomerulopathy, Macrocytic anemia, Pancytopenia, Hemolytic-uremic syndrome, Hypertension, Increas...	ORPHA:2169
Spondyloenchondrodysplasia	Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim...	ORPHA:1855
Coach Syndrome 2	Hypertension, Hyperechogenic kidneys	OMIM:619111
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Cervical neoplasm, Elevated urinary catecholamine level, Thyroid ...	ORPHA:653
Arima Syndrome	Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Renal corticomedu...	OMIM:243910
Infection-Related Hemolytic Uremic Syndrome	Hemolytic anemia, Increased circulating interleukin 6 concentration, Diabetes mellitus, Anuria, B...	ORPHA:544482
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Overlap Myositis	Diabetes mellitus, Abnormality of the kidney, Raynaud phenomenon, Hypertension, Leukopenia, Dysph...	ORPHA:206572
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Dementia, Dystonia	OMIM:272750
Polyarteritis Nodosa	Pericarditis, Abnormality of the kidney, Raynaud phenomenon, Cardiomyopathy, Hypertension	ORPHA:767
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Hypertension, Mitral regurgitation, Renal insufficiency, Polycystic kidney dysplasia	OMIM:173900
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Proteinuria, Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoacidu...	OMIM:613404
Liddle Syndrome 1	Hypertension, Renal insufficiency, Decreased circulating aldosterone level, Decreased circulating...	OMIM:177200
Mercury Poisoning	Tachycardia, Anorexia, Hypertension, Hypotension, Acute kidney injury	ORPHA:330021
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Glomerulopathy, Pericarditis, Recurrent intrapulmonary hemorrhage, D...	ORPHA:900
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Agitation	OMIM:618056
Leukodystrophy, Hypomyelinating, 13	Irritability, Exaggerated startle response, Ataxia	OMIM:616881
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Proteinuria, Aggressive behavior, Chronic kidney disease, Tubulointerstitial nephritis,...	ORPHA:488627
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruation, Polycystic...	ORPHA:264580
Cystinosis, Nephropathic	Oral-pharyngeal dysphagia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuri...	OMIM:219800
Gaucher Disease Type 1	Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hematuria, Le...	ORPHA:77259
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, H...	ORPHA:805
Dent Disease 1	Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N...	OMIM:300009
Pediatric Systemic Lupus Erythematosus	Dark urine, Renal insufficiency, Proteinuria, Raynaud phenomenon, Hematuria, Nephrotic syndrome, ...	ORPHA:93552
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Micropeni...	OMIM:201750
Bartter Syndrome Type 4	Renal salt wasting, Increased urinary potassium, Impaired renal concentrating ability, Chronic ki...	ORPHA:89938
Pseudohypoaldosteronism, Type Iia	Hypertension, Pseudohypoaldosteronism	OMIM:145260
Congenital Disorder Of Glycosylation, Type Iiw	Membranoproliferative glomerulonephritis, Microscopic hematuria, Microcytic anemia, Thrombocytope...	OMIM:619525
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Bifid scrotum, Prominent scrotal raphe, Cryptorchidism, Hypertension, Umbilical hernia	ORPHA:1555
Glycogen Storage Disease Ib	Proteinuria, Pancreatic fibrosis, Splenomegaly, Neutropenia, Nephrolithiasis, Hypertension, Focal...	OMIM:232220
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differentiation, Hema...	OMIM:263200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypoalbuminemia	ORPHA:79396
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Malakoplakia	Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,...	ORPHA:556
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Pancytopenia, Renal artery aneurysm, Portal hypertension, Raynaud phenomenon, Splenomegaly, Leuko...	OMIM:615688
Pauci-Immune Glomerulonephritis	Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i...	ORPHA:93126
Birk-Landau-Perez Syndrome	Stage 3 chronic kidney disease, Renal insufficiency, Renal hypoplasia, Hypertension, Tubulointers...	OMIM:617595
Smith-Lemli-Opitz Syndrome	Hyperactivity, Aggressive behavior, Hypoalbuminemia, Elevated circulating 7-dehydrocholesterol co...	OMIM:270400
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re...	OMIM:610042
Bardet-Biedl Syndrome 1	Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Abnormality of the ...	OMIM:209900
Primary Sclerosing Cholangitis	Hypoalbuminemia, Depression	ORPHA:171
Nephroblastoma	Hematuria, Hypertension, Nephroblastoma	ORPHA:654
Cockayne Syndrome Type 1	Renal insufficiency, Proteinuria, Cryptorchidism, Hypertension, Male hypogonadism, Anemia	ORPHA:90321
Congenital Nephrotic Syndrome, Finnish Type	Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology	ORPHA:839
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Lcat Deficiency	Hemolytic anemia, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney ...	ORPHA:650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Renal insufficiency, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Hyperten...	OMIM:613095
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Hemoglobinuria, Hyp...	ORPHA:90038
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Restlessness, Cardiac conduction abnormality, Conges...	ORPHA:466677
Gaucher Disease, Type I	Pancytopenia, Epistaxis, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypertension, Mitral regu...	OMIM:230800
Histidinemia	Hyperactivity, Hyperhistidinemia	ORPHA:2157
Ohdo Syndrome	Cryptorchidism, Small scrotum, Proteinuria	OMIM:249620
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Premature thelarche, Atrioventricular block, Polycystic ovaries, Hypertension, Type I diabetes me...	ORPHA:371428
Free Sialic Acid Storage Disease	Splenomegaly, Nephrotic syndrome, Proteinuria	ORPHA:834
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Heart murmur, Multiple bladder diverticula	ORPHA:2728
Monosomy 18P	Hypertension, Hypothyroidism	ORPHA:1598
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Proteinuria, Glomerulonephritis, Supernumerary nipple, Stage 5 chronic kidney disease, Renal hypo...	OMIM:614376
Somatomammotropinoma	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:314769
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	ORPHA:436271
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Atrial fibrillation, Mildly reduced left ventricular ejection fraction, An...	ORPHA:66529
Acromegaly	Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo...	ORPHA:963
Papa Syndrome	Type I diabetes mellitus, Increased circulating antibody level, Proteinuria	ORPHA:69126
Glycogen Storage Disease Ia	Proteinuria, Nephrolithiasis, Hypertension, Focal segmental glomerulosclerosis, Delayed puberty, ...	OMIM:232200
Alexander Disease	Diabetes mellitus, Sudden cardiac death, Precocious puberty, Depression, Hypertension, Self-injur...	ORPHA:58
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Nephrolithiasis, Hypertension, Second degree atrioventricular block, Primary hyperaldosteronism, ...	OMIM:615474
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Vasc...	ORPHA:91138
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ketonuria, Cardiac arrest, Premature thelarche, Oral-pharyngeal dysphagia, Hypothyroidism, Myoglo...	OMIM:616878
Immunodeficiency 82 With Systemic Inflammation	Elevated circulating C-reactive protein concentration, Hypoalbuminemia, Hypernatremia, Anorexia	OMIM:619381
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Dysmenorrhea, Splenomegaly, Irregular menstruation, Polycystic ovaries, Renal tubular acidosis, O...	ORPHA:79240
Infant Botulism	Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia	ORPHA:178478
Distal Limb Deficiencies-Micrognathia Syndrome	Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia	ORPHA:1307
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Hereditary Renal Hypouricemia	Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe...	ORPHA:94088
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Transient ischemic attack, Proteinuria, Myocardial infarction, Hemolytic-uremic ...	OMIM:274150
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Hypertension, Hypothyroidism	OMIM:617763
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Bilateral cryptorchidism, Irritability, Mild proteinuria	OMIM:619685
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Hypertension, Polycystic kidney dysplasia	OMIM:600666
Systemic Lupus Erythematosus	Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Depression, Hematuria...	ORPHA:536
Acute Interstitial Pneumonia	Hypoxemia, Hypertension, Cyanosis, Reduced hematocrit	ORPHA:79126
Sandhoff Disease	Exaggerated startle response, Progressive psychomotor deterioration, Ataxia	OMIM:268800
Glycogen Storage Disease Ic	Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hematuria, Hypertension,...	OMIM:232240
Juvenile Polyposis Of Infancy	Hypoalbuminemia	ORPHA:79076
Fibrous Dysplasia Of Bone	Antalgic gait, Hypercalcemia, Difficulty walking, Hypophosphatemia	ORPHA:249
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:605115
Mitochondrial Trifunctional Protein Deficiency 2	Tricuspid regurgitation, Recurrent myoglobinuria, Cerebral hemorrhage, Dilated cardiomyopathy, Mi...	OMIM:620300
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Seckel Syndrome 10	Diabetes mellitus, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Conge...	OMIM:617253
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,...	OMIM:220110
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Hypertension, Microangiopathi...	OMIM:235400
Donnai-Barrow Syndrome	Non-acidotic proximal tubulopathy, Umbilical hernia, Proteinuria, Bicornuate uterus	OMIM:222448
Atrial Fibrillation, Familial, 14	ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval	OMIM:615378
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia	ORPHA:99880
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Hardikar Syndrome	Hypoplasia of the bladder, Decreased serum insulin-like growth factor 1, Renal insufficiency, Hyd...	OMIM:301068
Juvenile Polyposis Syndrome	Hypoproteinemia	ORPHA:2929
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Proteinuria, Raynaud phenomenon, Punctate vasculitis skin lesions, R...	OMIM:192315
Carney Complex	Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O...	ORPHA:1359
Poliomyelitis	Anorexia, Hypertension, Hypovolemic shock, Irritability, Agitation, Hypotension, Dysphagia	ORPHA:2912
Parathyroid Carcinoma	Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia	ORPHA:143
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Hypertension, Pulmonary arterial hypertension	OMIM:613320
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response	OMIM:609541
Primary Progressive Freezing Gait	Hypertension, Restless legs, Urinary incontinence, Dysphagia	ORPHA:75567
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Tachycardia, Macrocytic anemia, Proteinuria, Pancytopenia, Megaloblastic anemia,...	ORPHA:35858
Atypical Werner Syndrome	Renal neoplasm, Premature ovarian insufficiency, Diabetes mellitus, Telangiectasia of the skin, A...	ORPHA:79474
Pseudohypoaldosteronism Type 2	Hypertension	ORPHA:757
Hyperthyroidism, Nonautoimmune	Hyperactivity, Increased circulating thyroglobulin level	OMIM:609152
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A...	ORPHA:534
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Familial Cerebral Saccular Aneurysm	Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage	ORPHA:231160
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:618620
Familial Mediterranean Fever, Autosomal Dominant	Renal insufficiency, Proteinuria, Renal amyloidosis	OMIM:134610
Pearson Syndrome	Ataxia, Dysphagia, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Hyperalaninemia	ORPHA:699
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Proteinuria, Vaginal neoplasm, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria,...	ORPHA:1018
Leiomyomatosis, Diffuse, With Alport Syndrome	Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne...	OMIM:308940
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tachycardia, Elevated urinary cate...	OMIM:115310
Familial Dysautonomia	Glomerulopathy, Orthostatic hypotension, Renal insufficiency, Tachycardia, Abnormality of the kid...	ORPHA:1764
Fanconi Renotubular Syndrome 3	Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria	OMIM:615605
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Hypertension...	OMIM:193300
Livedoid Vasculopathy	Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hypertension, Ischemic...	ORPHA:542643
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Myhre Syndrome	Abnormal penis morphology, Hypospadias, External genital hypoplasia, Precocious puberty, Cryptorc...	ORPHA:2588
Nephronophthisis-Like Nephropathy 1	Tubular basement membrane disintegration, Pancreatic cysts, Stage 5 chronic kidney disease, Hyper...	OMIM:613159
Hypocomplementemic Urticarial Vasculitis	Glomerulopathy, Renal insufficiency, Proteinuria, Splenomegaly, Hematuria, Small vessel vasculitis	ORPHA:36412
Arteriosclerosis, Severe Juvenile	Myocardial infarction, Chronic kidney disease, Hypertension, Delayed puberty, Anemia	OMIM:208060
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Lipomyelomeningocele, Dilatation of...	OMIM:616580
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response, Ataxia	OMIM:618598
Carney Triad	Gastrointestinal hemorrhage, Tachycardia, Anorexia, Anemia, Hypertension, Adrenocortical adenoma,...	ORPHA:139411
Turner Syndrome Due To Structural X Chromosome Anomalies	Myocardial infarction, Ectopic kidney, Hashimoto thyroiditis, Premature ovarian insufficiency, Se...	ORPHA:99413
Mosaic Monosomy X	Myocardial infarction, Ectopic kidney, Hashimoto thyroiditis, Premature ovarian insufficiency, Se...	ORPHA:99228
Monosomy X	Myocardial infarction, Ectopic kidney, Hashimoto thyroiditis, Premature ovarian insufficiency, Se...	ORPHA:99226
Turner Syndrome	Myocardial infarction, Ectopic kidney, Hashimoto thyroiditis, Premature ovarian insufficiency, Se...	ORPHA:881
Autosomal Dominant Dopa-Responsive Dystonia	Hypertension, Hypothyroidism, Compulsive behaviors, Depression	ORPHA:98808
Juvenile Paget Disease	Hypertension	ORPHA:2801
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Extracranial Carotid Artery Aneurysm	Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Hypertension, Cerebral ischemia, Arteritis	ORPHA:494424
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Difficulty walking	ORPHA:320406
Ddost-Cdg	Nephrotic range proteinuria, Primary hypothyroidism	ORPHA:300536
Leptospirosis	Hyperproteinemia, Anorexia	ORPHA:509
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur...	OMIM:277400
Liddle Syndrome 2	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:618126
Lymphatic Filariasis	Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Epididymitis, Hypereosinoph...	ORPHA:2035
Apparent Mineralocorticoid Excess	Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level	OMIM:218030
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Cerebral hemo...	ORPHA:244242
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne...	ORPHA:228302
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Nephropathy, Proteinuria	ORPHA:2774
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced	Myoglobinuria, Renal insufficiency	OMIM:255110
Alkaptonuria	Myocardial infarction, Nephrolithiasis, Hypertension, Aminoaciduria, Prostatitis	ORPHA:56
Hurler Syndrome	Angina pectoris, Splenomegaly, Depression, Cardiomyopathy, Hypertension, Mucopolysacchariduria	ORPHA:93473
Agel Amyloidosis	Proteinuria, Stage 5 chronic kidney disease, Depression, Cardiomyopathy, Abnormal spleen morpholo...	ORPHA:85448
Arterial Tortuosity Syndrome	Aortic regurgitation, Hypertension, Ischemic stroke, Umbilical hernia, Aortic valve stenosis, Tel...	OMIM:208050
Cockayne Syndrome A	Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Irregular menstruation, Micropeni...	OMIM:216400
Lymphedema-Distichiasis Syndrome	Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Tubulointerst...	ORPHA:33001
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Hematemesis, Thrombocytopenia, Splenomegaly, Vasculitis, Hematoch...	OMIM:615846
Williams Syndrome	Hypoplasia of penis, Myocardial infarction, Abnormal tubulointerstitial morphology, Nephrocalcino...	ORPHA:904
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria,...	ORPHA:18
Majeed Syndrome	Glomerulopathy, Proteinuria, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochrom...	ORPHA:77297
Cirrhosis, Familial	Hypertension, Pulmonary arterial hypertension, Increased level of L-fucose in urine	OMIM:215600
Glycogen Storage Disease Due To Aldolase A Deficiency	Myoglobinuria, Arrhythmia, Acute kidney injury, Hemolytic anemia	ORPHA:57
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Tubulointerstitial nephritis, Proteinuria	OMIM:616901
Lysinuric Protein Intolerance	Decreased response to growth hormone stimulation test, Tubulointerstitial nephritis, Renal fibros...	ORPHA:470
Lipodystrophy, Familial Partial, Type 2	Labial pseudohypertrophy, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovari...	OMIM:151660
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoaciduria, Renal artery steno...	OMIM:617913
Myoglobinuria, Autosomal Dominant	Myoglobinuria, Acute kidney injury	OMIM:160010
Hallermann-Streiff Syndrome	Hyperactivity, Spina bifida, Cryptorchidism, Telangiectasia, Hypertension, Pulmonary arterial hyp...	OMIM:234100
Glycogen Storage Disease X	Myoglobinuria, Renal insufficiency	OMIM:261670
Myoglobinuria, Recurrent	Recurrent myoglobinuria, Exercise-induced myoglobinuria	OMIM:550500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Dicarboxylic aciduria, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Myoglobinuria	OMIM:231530
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Cognitive impairment, Dysphagia	OMIM:617527
Beare-Stevenson Cutis Gyrata Syndrome	Bifid scrotum, Hypospadias, Hypoplastic labia majora, Hypertension, Prominent scrotal raphe	OMIM:123790
Proximal Renal Tubular Acidosis	Hyperphosphaturia, Hypovolemia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephr...	ORPHA:47159
Glycogen Storage Disease Xi	Myoglobinuria, Renal insufficiency	OMIM:612933
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hemolytic anemia, Renal insufficiency, Decreased hemoglobin concentration, Reticulocytosis, Myogl...	ORPHA:713
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Acute Transverse Myelitis	Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Abscess, Hypertension, Ur...	ORPHA:139417
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Proteinuria, Anorexia, Orchitis...	ORPHA:761
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Dicarboxylic aciduria, Myoglobinuria, Dilated cardiomyopathy, Fasting hype...	ORPHA:71212
Pseudohypoaldosteronism, Type Iic	Hypertension, Pseudohypoaldosteronism, Decreased circulating renin level	OMIM:614492
Cornelia De Lange Syndrome 1	Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter...	OMIM:122470
Raine Syndrome	Hypophosphatemia	OMIM:259775
Central Hypoventilation Syndrome, Congenital, 3	Episodic hypertension	OMIM:619483
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Ketonuria, Microcytic anemia, 3-Methylglutaconic aciduria, Neutropenia, Myoglobinuria, Hypothyroi...	OMIM:251900
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Glomerulonephritis, Spina bifida, Hematuria, Nephrotic syndrome	OMIM:161200
Glycogen Storage Disease V	Dark urine, Myoglobinuria	OMIM:232600
Familial Pseudohyperkalemia	Reticulocytosis, Hypertension, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease	Nephropathy, Diabetes mellitus, Proteinuria, Renal artery stenosis	OMIM:209010
Orofaciodigital Syndrome I	Proteinuria, Pancreatic cysts, Myelomeningocele, Hypertension, Ovarian cyst, Polycystic kidney dy...	OMIM:311200
Aortic Arch Interruption	Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood pressure substantially high...	ORPHA:2299
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Proteinuria	ORPHA:1765
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Pseudohypoaldosteronism, Type Iib	Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hypertension, Pseudohypoaldosteronism	OMIM:614495
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Exercise-induced myoglobinuria, Reduced erythrocyte 2,3-diphos...	OMIM:232800
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Pancreatic cysts, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenom...	OMIM:266920
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Renal insufficiency, Recurrent urinary tract infections, Portal hype...	ORPHA:731
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal insufficiency, Dicarboxylic aciduria, Heart block, Myoglobinuria, Red-brown urine, Renal tu...	ORPHA:228308
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency	Myoglobinuria, Renal insufficiency	ORPHA:2364
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Splenomegaly, Cardiomyopathy, Hypertension, Abno...	ORPHA:580
Carnitine Palmitoyltransferase Ii Deficiency	Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis...	ORPHA:157
Myopathy With Lactic Acidosis, Hereditary	Sideroblastic anemia, Leukopenia, Palpitations, Myoglobinuria, Anemia	OMIM:255125
Pseudohypoaldosteronism, Type Iie	Hypertension, Pseudohypoaldosteronism	OMIM:614496
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Cardiomyopathy, Arrhythmia, Myoglobinuria, Red-brown urine	ORPHA:228305
Familial Mediterranean Fever	Pericarditis, Proteinuria, Myocardial infarction, Orchitis, Splenomegaly, Vasculitis, Nephrocalci...	ORPHA:342
Holoprosencephaly	Encephalocele, Hypoplasia of penis, Diabetes mellitus, Proteinuria, Cryptorchidism, Abnormality o...	ORPHA:2162
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Cyanosis, Female hypogonadism, Mitral stenosis, Decreased serum leptin, Ang...	ORPHA:740
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Cockayne Syndrome	Neurogenic bladder, Diabetes mellitus, Renal insufficiency, Urinary incontinence, Unilateral rena...	ORPHA:191
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Abnormality of the uterus, Vesicoureteral reflux, Hypothyroidism, Hypop...	ORPHA:567
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Myoglobinuria, Acute kidney injury	OMIM:268200
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Cardiomyopathy, Myoglobinuria	ORPHA:119
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response	OMIM:617281
Scalp-Ear-Nipple Syndrome	Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit...	ORPHA:2036
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Dicarboxylic aciduria, Sudden cardiac death, Exercise-induced myoglobinuria, Reduced left ventric...	OMIM:201475
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Congestive heart failure, Dilated cardiomyopathy, Hypertension, Renal arte...	OMIM:208000
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Nestor-Guillermo Progeria Syndrome	Decreased serum leptin, Right bundle branch block, Hypertension, Mitral regurgitation, Pulmonary ...	OMIM:614008
Hunter-Macdonald Syndrome	Aortic regurgitation, Hypospadias, Hypertension, Mitral regurgitation, Umbilical hernia	OMIM:611962
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Hypochromic microcytic anemia, Mild proteinuria, Hypothyroidism, Anemia	OMIM:619147
Williams-Beuren Syndrome	Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid...	OMIM:194050
Apert Syndrome	Hypertension, Ovarian neoplasm	ORPHA:87
Marshall-Smith Syndrome	Bilateral cryptorchidism, Cryptorchidism, Premature ventricular contraction, Hypertension, Umbili...	OMIM:602535
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc...	ORPHA:3342
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Low Phospholipid-Associated Cholelithiasis	Hypertension, Diabetes mellitus, Liver abscess, Cholelithiasis	ORPHA:69663
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Becker Muscular Dystrophy	Abnormal urinary color, Myoglobinuria	ORPHA:98895
Severe Oculo-Renal-Cerebellar Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria	ORPHA:2715
Cockayne Syndrome B	Renal insufficiency, Proteinuria, Cryptorchidism, Splenomegaly, Micropenis, Hypertension, Arrhythmia	OMIM:133540
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria	OMIM:619471
Mucopolysaccharidosis Type 2, Severe Form	Heparan sulfate excretion in urine, Splenomegaly, Heart murmur, Dermatan sulfate excretion in uri...	ORPHA:217085
Multisystemic Smooth Muscle Dysfunction Syndrome	Cryptorchidism, Hypertension, Pulmonary arterial hypertension	OMIM:613834
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Brain ab...	OMIM:600376
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Hemoglobinuria, Poikilocytosis, Fava b...	OMIM:300908
Mucopolysaccharidosis Type 2, Attenuated Form	Heparan sulfate excretion in urine, Splenomegaly, Heart murmur, Dermatan sulfate excretion in uri...	ORPHA:217093
Kawasaki Disease	Pericarditis, Proteinuria, Myocarditis, Congestive heart failure, Vasculitis, Leukocytosis, Steri...	ORPHA:2331
Isolated Ectopia Lentis	Hypertension	ORPHA:1885
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Dysphagia	OMIM:617301
Carey-Fineman-Ziter Syndrome	Hydronephrosis, Glandular hypospadias, Hypertensive crisis	ORPHA:1358
Mitochondrial Trifunctional Protein Deficiency 1	Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Myoglobinuria	OMIM:609015
Paroxysmal Cold Hemoglobinuria	Abnormal urinary color, Autoimmune hemolytic anemia, Hemoglobinuria, Coombs-positive hemolytic an...	ORPHA:90035
Gaucher Disease Type 3	Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Hematuria, Increased circulating antib...	ORPHA:77261
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Abnormal left ventricular function, Dilated cardiomyopathy, Exercise-induced myoglobinuria	OMIM:607155
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Alström Syndrome	Decreased response to growth hormone stimulation test, Urinary incontinence, Elevated circulating...	ORPHA:64
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Ataxia	OMIM:620047
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hypertension,...	ORPHA:394
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, Chronic kidney disease, ...	OMIM:208500
Neurofibromatosis Type 1	Abnormality of the upper urinary tract, Abnormality of the endocrine system, Cryptorchidism, Prec...	ORPHA:636
Galloway-Mowat Syndrome	Nephropathy, Nephrotic syndrome, Proteinuria	ORPHA:2065
Xq21 Microdeletion Syndrome	Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi...	ORPHA:1435
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria	ORPHA:284426
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hypertension	OMIM:616914
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Pulmonary carcinoid tumor, Intracranial hemorrhage, Hypertension, Mitra...	ORPHA:363618
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Pancreatic cysts, Hypertension, H...	ORPHA:2750
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Nail-Patella Syndrome	Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic...	ORPHA:2614
Ispd-Related Limb-Girdle Muscular Dystrophy R20	Exercise-induced myoglobinuria	ORPHA:352479
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency	Myoglobinuria	OMIM:602199
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypovolemia, Abnormal l...	ORPHA:91387
Scalp-Ear-Nipple Syndrome	Renal insufficiency, Unilateral renal agenesis, Congestive heart failure, Renal hypoplasia, Pyelo...	OMIM:181270
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome	Glomerulopathy, Renal insufficiency, Proteinuria, Elliptocytosis, Microscopic hematuria	ORPHA:86818
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Retinal hemorrhage, Hypertension, Tachycardia, Bradycardia	OMIM:614653
Tubulointerstitial Nephritis And Uveitis Syndrome	Normocytic anemia, Anorexia, Renal interstitial edema, Renal neutrophilic tubulitis, Sterile pyur...	ORPHA:91500
Glycogen Storage Disease Ixd	Exercise-induced myoglobinuria	OMIM:300559
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Reticulocytosis, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Hemoglobinuri...	OMIM:194380
Sandhoff Disease, Infantile Form	Exaggerated startle response	ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder	Impaired oropharyngeal swallow response, Exaggerated startle response, Dystonia	ORPHA:521426
Tropical Endomyocardial Fibrosis	Hypoalbuminemia	ORPHA:75565
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Abdominal Obesity-Metabolic Syndrome 3	Hypertension, Type II diabetes mellitus, Myocardial infarction	OMIM:615812
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup...	ORPHA:353281
Asparagine Synthetase Deficiency	Tremor, Irritability, Exaggerated startle response	OMIM:615574
Neurofibromatosis, Type I	Spina bifida, Hypertension, Pheochromocytoma, Renal artery stenosis, Parathyroid adenoma	OMIM:162200
Yunis-Varon Syndrome	Hypospadias, Cryptorchidism, Renovascular hypertension, Hypoplastic labia majora, Hypertension, C...	ORPHA:3472
Adams-Oliver Syndrome 1	Encephalocele, Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hyperten...	OMIM:100300
Generalized Arterial Calcification Of Infancy	Hyperphosphaturia, Cyanosis, Transient ischemic attack, Adrenal calcification, Retinal hemorrhage...	ORPHA:51608
Gaucher Disease	Pancytopenia, Proteinuria, Thrombocytopenia, Splenomegaly, Dysphagia, Depression, Hematuria, Incr...	ORPHA:355
Aymé-Gripp Syndrome	Cryptorchidism, Pericarditis, Proteinuria, Breast hypoplasia	ORPHA:1272
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Proteinuria, Cerebral hemorrhage, Precocious puberty, Cryptorchidism, Abnormal repetitive mannerisms	OMIM:616682
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Cardiomyopathy, Myoglobinuria	ORPHA:206549
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Aggressive behavior, Cryptorchidism, Bicarbonaturia, Prox...	OMIM:309000
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Myoglobinuria	OMIM:620138
Cutis Marmorata Telangiectatica Congenita	Hypertension, Telangiectasia	OMIM:219250
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Stage 5 chronic kidney disease	OMIM:219900
Paroxysmal Nocturnal Hemoglobinuria 2	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:615399
Osteootohepatoenteric Syndrome	Proteinuria, Grade II vesicoureteral reflux, Anemia	OMIM:619377
Combined Oxidative Phosphorylation Deficiency 15	Wolff-Parkinson-White syndrome, Hypertension, Shortened PR interval	OMIM:614947
Cranioectodermal Dysplasia 2	Renal insufficiency, Splenomegaly, Renal cyst, Hypertension, Bile duct proliferation, Polysplenia	OMIM:613610
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy	Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia	OMIM:612300
Glycogen Storage Disease Xii	Normocytic anemia, Splenomegaly, Hemoglobinuria, Normochromic anemia, Delayed puberty, Nonspheroc...	OMIM:611881
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To	Hemoglobinuria, Hemolytic anemia	OMIM:266120
Goodpasture Syndrome	Renal insufficiency, Cyanosis, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent ...	OMIM:233450
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Precocious puberty, Renovascular hypertension, Glomus jugular tumor, ...	ORPHA:97685
Pure Mitochondrial Myopathy	Recurrent myoglobinuria	ORPHA:254854
Myhre Syndrome	Cryptorchidism, Aortic valve stenosis, Hypertension	OMIM:139210
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen...	OMIM:308205
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Irritability, Exaggerated startle response, Dysphagia	OMIM:618367
Blau Syndrome	Clear cell renal cell carcinoma, Pericarditis, Splenomegaly, Stage 5 chronic kidney disease, Larg...	ORPHA:90340
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Dystonia	ORPHA:79255
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Hypospadias, Hypertension, Mitral regurgitation, Dysphagia, Hypertrophic cardiomyopathy	OMIM:220111
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cryptorchidism, Renal hypoplasia, Renal cyst, Hypertension, Polycystic kidney dysplasia, Micropenis	OMIM:210710
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Polyuria, Hypertension, Dysphagia, Type I diabetes mellitus, Pulmonary a...	OMIM:606721
Aorta Coarctation	Congestive heart failure, Hypertension, Pulmonary arterial hypertension	ORPHA:1457
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cardia...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Recurrent urinary tract infections, Hypospadias, Abnormality of the kidney, Cardia...	ORPHA:353277
Vascular Ehlers-Danlos Syndrome	Telangiectasia of the skin, Transient ischemic attack, Hypospadias, Cryptorchidism, Cystocele, Re...	ORPHA:286
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response	OMIM:253800
Relapsing Polychondritis	Glomerulopathy, Pericarditis, Renal insufficiency, Proteinuria, Myocarditis, Large vessel vasculi...	ORPHA:728
Familial Osteodysplasia, Anderson Type	Hypertension	ORPHA:2769
Congenital Disorder Of Glycosylation, Type Iim	Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula	OMIM:300896
Paroxysmal Nocturnal Hemoglobinuria 1	Paroxysmal nocturnal hemoglobinuria	OMIM:300818
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Proteinuria, Elevated hemoglobin A1c, Focal segmental glomerulosclerosis...	OMIM:619127
Pmm2-Cdg	Reduced thyroxin-binding globulin, Hypoalbuminemia, Ataxia	ORPHA:79318
Blau Syndrome	Hypertension, Pericarditis	OMIM:186580
Homozygous Familial Hypercholesterolemia	Angina pectoris, Sudden cardiac death, Myocardial infarction, Renal steatosis, Heart murmur, Abno...	ORPHA:391665
Familial Bicuspid Aortic Valve	Aortic regurgitation, Hypertension, Aortic valve stenosis, Heart murmur	ORPHA:402075
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Abnormal repetitive mannerisms, Attention deficit hyperactivity dis...	OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Broad-based gait, Exaggerated startle response, Dystonia, Inability to walk, Dysphagia, Stereotyp...	ORPHA:438213
Keutel Syndrome	Hypertension, Pulmonic stenosis	OMIM:245150
Panic Disorder 1		OMIM:167870

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 Comt

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 Comt.

There are 1 publication which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Critical reappraisal of mechanistic links of copy number variants to dimensional constructs of neuropsychiatric disorders in mouse models.	Psychiatry and clinical neurosciences (March 2018)	Comt^{tm1b(EUCOMM)Wtsi}	29369447

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MGI Allele	Allele Type	Produced
Comt^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Comt^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Comt^{tm1b(EUCOMM)Wtsi}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Comt MGI:88470

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Adult LacZ

Echo

X-ray

X-ray

X-ray

Embryo LacZ

Immunophenotyping

Immunophenotyping

Human diseases caused by Comt mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data