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Gene: Comt MGI:88470

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Gene Summary

Name:
catechol-O-methyltransferase
Synonyms:
D16Wsu103e,  Comt1,  D330014B15Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
hyperactivity Comttm1b(EUCOMM)Wtsi HOM Early adult 2.00×10-06
decreased thigmotaxis Comttm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-06
decreased circulating serum albumin level Comttm1b(EUCOMM)Wtsi HOM Early adult 1.05×10-07
decreased circulating total protein level Comttm1b(EUCOMM)Wtsi HOM   Early adult 7.19×10-05
increased circulating phosphate level Comttm1b(EUCOMM)Wtsi HOM   Early adult 8.85×10-05
decreased circulating fructosamine level Comttm1b(EUCOMM)Wtsi HOM Early adult 4.61×10-11
decreased anxiety-related response Comttm1b(EUCOMM)Wtsi HOM Early adult 1.24×10-08
increased grip strength Comttm1b(EUCOMM)Wtsi HOM Early adult 4.00×10-08
abnormal behavior Comttm1b(EUCOMM)Wtsi HOM Early adult 2.59×10-06
increased circulating alanine transaminase level Comttm1b(EUCOMM)Wtsi HOM   Early adult 2.37×10-05
abnormal locomotor behavior Comttm1b(EUCOMM)Wtsi HOM Early adult 5.46×10-06

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  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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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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Echo

M-Mode Images

32 Images

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Embryo LacZ

LacZ images wholemount

8 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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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

7 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

7 Images

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia
Social and occupational deterioration OMIM:181500
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Multiple renal cyst... ORPHA:567
Panic Disorder 1
OMIM:167870

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Depressive Disorder
Depression OMIM:608516
Major Affective Disorder 1
Depression, Mania 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
Cognitive impairment, Dementia OMIM:618564
Alzheimer Disease 10
Dementia, Memory impairment 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)
Hyperactivity, Short attention span DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Intellectual Developmental Disorder, Autosomal Recessive 54
Attention deficit hyperactivity disorder, Emotional lability, Exaggerated startle response OMIM:617028
Hypoparathyroidism, Familial Isolated, 1
Hypocalcemia, Irritability, Hyperphosphatemia, Hypocalcemic seizures OMIM:146200
Hypoparathyroidism, Familial Isolated, 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:618883
Pandas
Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E... ORPHA:66624
Citrullinemia Type Ii
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Elevated plasma citr... ORPHA:247585
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Malignant Hyperthermia, Susceptibility To, 2
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154275
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Irritability, Decreased HDL cholesterol concentration, Increased LDL choles... OMIM:267700
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia ORPHA:94124
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia OMIM:203330
Malignant Hyperthermia, Susceptibility To, 3
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Steppage gait, Hypercholesterolemia, Ataxia OMIM:607250
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:94090
Galactosemia I
Premature ovarian insufficiency, Galactosuria, Hypergonadotropic hypogonadism, Increased level of... OMIM:230400
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Schizophrenia 15
Hyperactivity OMIM:613950
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Pseudobulbar paralysis, Abnormal fear-induced behavior, Delirium, Aggressive behavior ORPHA:208441
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Ménétrier Disease
Anorexia, Hypoalbuminemia, Hypoproteinemia ORPHA:2494
Autoimmune Hypoparathyroidism
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:36913
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Increased circulating creatine kinase MM isoform, Hypermethioninemia OMIM:613752
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration OMIM:145600
Frasier Syndrome
Ambiguous genitalia, male, Glomerulopathy, Gonadoblastoma, Hypertension, Focal segmental glomerul... ORPHA:347
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia OMIM:601198
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
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
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Cholestasis, Progressive Familial Intrahepatic, 10
Increased serum bile acid concentration, Increased total bilirubin, Conjugated hyperbilirubinemia... OMIM:619868
Glomerulopathy With Fibronectin Deposits 2
Glomerular fibronectin deposits, Hypertension, Nephrotic syndrome, Microscopic hematuria, Protein... OMIM:601894
Alport Syndrome 3B, Autosomal Recessive
Thin glomerular basement membrane, Nephrotic syndrome, Microscopic hematuria, Proteinuria, Albumi... OMIM:620536
Immunodeficiency 43
Hypoalbuminemia, Decreased circulating beta-2-microglobulin level, Hypoproteinemia OMIM:241600
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Diarrhea 13
Hypoalbuminemia OMIM:620357
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia OMIM:603233
Refractory Celiac Disease
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Hypoalbuminemia ORPHA:398063
Trimethylaminuria
Trimethylaminuria, Anemia, Depression, Hypertension, Splenomegaly, Tachycardia, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Irritability, Hypoproteinemia, Increased total bilirubin, Hyponatremia, Ata... OMIM:603553
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Glomerulopathy With Fibronectin Deposits 1
Glomerular fibronectin deposits, Glomerulopathy, Hypertension, Nephropathy, Nephrotic syndrome, M... OMIM:137950
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Gait imbalance, Elevated circulating creatine kinase concentration, Ataxia, Dysphagia, Elevated c... ORPHA:64753
Polycystic Kidney Disease 7
Hypertension, Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, ... OMIM:620056
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Motor stereotypy, Hyperprolinemia, Aggressive behavior OMIM:239500
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Pseudohypoparathyroidism Type 1B
Irritability, Hypocalcemic seizures, Hypocalcemia, Depression, Hypocalcemic tetany, Hyperphosphat... ORPHA:94089
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Motor stereotypy, Paroxysmal bursts of laughter OMIM:618347
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dysphagia, Impulsivity, Gait ataxia OMIM:620448
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia, Proteinuria OMIM:189800
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia, Aggressive behavior OMIM:608093
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Truncal ataxia, Elevated circulating creatine kinase concentration, Gait ataxia, Ata... OMIM:208920
Spondyloepiphyseal Dysplasia, Nishimura Type
Hypocalcemia, Hyperphosphatemia OMIM:618618
Narcolepsy Type 1
Depression, Hypertension, Precocious puberty, Male sexual dysfunction, Restless legs, Attention d... ORPHA:2073
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Infertility, Hypertension, Oligomen... ORPHA:280356
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney... OMIM:603965
Glycine Encephalopathy 1
Irritability, Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior OMIM:605899
Primary Membranoproliferative Glomerulonephritis
Acute kidney injury, Glomerular subendothelial electron-dense deposits, Hypertension, Nephrotic s... ORPHA:54370
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Azoospermia, Infertility, Hypertension, Oligozoospermia, Type II diabet... OMIM:615703
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Hematuria, Decreased glomerular filtration rate, Calcium oxalate nephrolithiasis... ORPHA:730
Nail-Patella-Like Renal Disease
Glomerulopathy, Hypertension, Microscopic hematuria, Proteinuria, Renal insufficiency ORPHA:2613
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Precocious ... ORPHA:90793
Genetic Recurrent Myoglobinuria
Hyperkalemia, Difficulty walking, Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase ORPHA:99845
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Abnormal circulating creatine kinase concentration, Elevated haptoglobin level, ... OMIM:620632
Nephrotic Syndrome, Type 7
Hypoalbuminemia OMIM:615008
Proteinuria, Chronic Benign
Renal insufficiency, Proteinuria, Albuminuria OMIM:618884
Lessel-Kubisch Syndrome
Renal hypoplasia, Hypertension, Renal insufficiency, Hypogonadism OMIM:618681
Renal Failure, Progressive, With Hypertension
Hypertension, Microscopic hematuria, Nephritis, Proteinuria, Stage 5 chronic kidney disease, Rena... OMIM:161900
Iga Nephropathy, Susceptibility To, 2
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:613944
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Resting ... ORPHA:3077
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chr... OMIM:613237
Iga Nephropathy, Susceptibility To, 3
Hematuria, Hypertension, Proteinuria, Mesangial hypercellularity, IgA deposition in the glomerulu... OMIM:616818
Al Amyloidosis
Abnormality of the kidney, Gastrointestinal hemorrhage, Renal interstitial amyloid deposits, Abno... ORPHA:85443
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Hypertension, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency OMIM:607832
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Coproporphyria, Hereditary
Elevated urinary delta-aminolevulinic acid, Increased urinary porphobilinogen, Depression, Hypert... OMIM:121300
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Motor stereotypy OMIM:300271
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia OMIM:603278
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoalbuminemia, Hypoproteinemia, Hypomagnesemia ORPHA:90362
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Ataxia ORPHA:79320
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia, Hyperphosphatemia, Hypercalcemia OMIM:617994
Immunodeficiency 27A
Anorexia, Hypoalbuminemia OMIM:209950
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Broad-based gait OMIM:618805
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Exaggerated startle response, Cognitive i... ORPHA:309246
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoalbuminemia, Hypoproteinemia OMIM:226300
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability, Episodic ataxia OMIM:234500
Senior-Loken Syndrome
Premature ovarian insufficiency, Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 ... ORPHA:3156
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Hypertension, Prematur... ORPHA:90795
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Ataxia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Pseudohypoparathyroidism, Type Ic
Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany OMIM:612462
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Irritability, Elevated serum 11-deoxycortiso... ORPHA:1501
Pancreatic insufficiency, combined exocrine
Hypoproteinemia OMIM:260450
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Neuroleptic Malignant Syndrome
Hyperkalemia, Agitation, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concen... ORPHA:94093
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Iga Nephropathy, Susceptibility To, 1
Hematuria, Hypertension, Nephritis, Proteinuria, IgA deposition in the glomerulus, Stage 5 chroni... OMIM:161950
Dengue Fever
Hypoproteinemia ORPHA:99828
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Glomerular C3 deposition, Hypertension, Abnormal glomerular mesangium morpho... ORPHA:567544
Pigmented Nodular Adrenocortical Disease, Primary, 1
Agitation, Increased serum testosterone level, Decreased circulating ACTH concentration, Pigmente... OMIM:610489
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Elevated circulating creatine kinase concentration, Hyperammonemia... ORPHA:26793
Leishmaniasis
Anorexia, Hypoalbuminemia ORPHA:507
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Calciphylaxis
Hyperphosphatemia ORPHA:280062
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Attention deficit hyperactivity disorder, Ataxia, Impulsivity OMIM:617113
Autosomal Dominant Hypocalcemia
Hypocalcemia, Depression, Emotional lability, Hypomagnesemia, Hyperphosphatemia ORPHA:428
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Irritability ORPHA:656
Frasier Syndrome
Gonadal dysgenesis, Focal segmental glomerulosclerosis, Male pseudohermaphroditism, Nephrotic syn... OMIM:136680
Eosinophilic Gastroenteritis
Hypoalbuminemia, Dysphagia, Elevated circulating C-reactive protein concentration ORPHA:2070
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Impaired lymphocyte transformation with phytohemagglutinin, Minimal change glomerulonephritis, De... OMIM:617006
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Increased circulating ferritin concentration, Elevated circulating C-reactive pr... OMIM:616050
Phenylketonuria
Irritability, Hyperactivity, Depression, Hyperphenylalaninemia, Compulsive behaviors, Attention d... OMIM:261600
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Hypertension, Focal segmental glomerulosclerosis, Microscopic ... ORPHA:567546
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Anemia, Hypertension, Nephrotic syndrome, Proteinuria, Type I diabetes mellitus, Cryptorchidism, ... ORPHA:1192
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Hypertriglyceridemia OMIM:615924
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Unsteady gait, Aggressive behavior OMIM:301107
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures OMIM:241410
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria OMIM:614199
Pseudohypoparathyroidism, Type Ia
Hyperphosphatemia, Hypocalcemic tetany OMIM:103580
Preeclampsia
Acute kidney injury, Abnormality of the kidney, Elevated diastolic blood pressure, Elevated systo... ORPHA:275555
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Hypertension, Bicornuate uterus, Proteinuria, Vaginal atresia, Primary ... OMIM:191830
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Hypertension, Myocardial infarction OMIM:608320
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Proteinuria, Membranoproliferative glomerulonephritis, Polycystic ... OMIM:608709
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Pseudohypoparathyroidism Type 1C
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79444
Amyloidosis, Familial Visceral
Hematuria, Hypertension, Nephrotic syndrome, Proteinuria, Renal amyloidosis, Splenomegaly, Nephro... OMIM:105200
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Increased total bilirubin, Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia OMIM:618528
C3 Glomerulopathy
Acute kidney injury, Hematuria, Hypertension, Paraproteinemia, Nephrotic syndrome, Proteinuria, M... ORPHA:329918
Cednik Syndrome
Nephrotic syndrome, Congestive heart failure, Proteinuria, Hypogonadism ORPHA:66631
Denys-Drash Syndrome
Gonadal dysgenesis, Hypertension, Male pseudohermaphroditism, Nephrotic syndrome, Proteinuria, Ne... ORPHA:220
Alg1-Cdg
Hypoalbuminemia ORPHA:79327
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Liver Failure, Infantile, Transient
Hypoalbuminemia, Irritability, Hyperbilirubinemia OMIM:613070
Lead Poisoning
Delayed puberty, Abnormal T cell morphology, Anorexia, Anemia, Decreased male libido, Imbalanced ... ORPHA:330015
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Hyperprolinemia Type 1
Prolinuria, Nephropathy, Proteinuria ORPHA:419
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Hypoalbuminemia OMIM:619013
Vitamin D-Dependent Rickets, Type 3
Hypocalcemia, Hypophosphatemia OMIM:619073
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Igg4-Related Kidney Disease
Enlarged kidney, Pericarditis, Increased circulating IgG4 level, Urinary bladder inflammation, Ac... ORPHA:449395
Glucocorticoid Resistance, Generalized
Increased circulating androstenedione concentration, Increased serum testosterone level, Infertil... OMIM:615962
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Hypophosphatemia OMIM:241520
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Impotence, Thrombocytopenia, Raynaud phenomenon, Dysphagia OMIM:615750
Pseudohypoparathyroidism Type 1A
Irritability, Calcinosis, Hypocalcemic seizures, Hypocalcemia, Depression, Polyphagia, Hypocalcem... ORPHA:79443
Polycystic Kidney Disease 5
Enlarged kidney, Polycystic kidney dysplasia, Hypertension, Hyperechogenic kidneys, Hepatosplenom... OMIM:617610
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Sudden cardiac death, Myocardial infarction, Type II diabetes mellitus OMIM:610947
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Steroid-resistant nephrot... OMIM:618176
Nephrotic Syndrome, Type 23
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Podocyte foot process effa... OMIM:619201
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Increased serum bile acid concentration, Hypoalbuminemia, Decreased circulating ceruloplasmin con... OMIM:242150
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hypertension, Oligomenorrhea, Type II diabetes mellitus, Pri... OMIM:604367
Pituitary Adenoma 1, Multiple Types
Increased circulating prolactin concentration, Hypertension, Pituitary growth hormone cell adenom... OMIM:102200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Hypercalcemia, Hyperphosphatemia OMIM:211900
Immunodeficiency, Common Variable, 6
Enlarged kidney, Complete or near-complete absence of specific antibody response to tetanus vacci... OMIM:613496
46,Xy Sex Reversal 11
Decreased cirrculating antimullerian hormone circulation, Gonadal dysgenesis with female appearan... OMIM:273250
Systemic Sclerosis
Myocarditis, Abnormality of the kidney, Nail bed telangiectasia, Acute kidney injury, Gastrointes... ORPHA:90291
Potocki-Shaffer Syndrome
Delayed puberty, Anemia, Hypertension, Hypothyroidism, Nephroblastoma, Micropenis ORPHA:52022
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise ORPHA:423
Pure Autonomic Failure
Urinary incontinence, Abnormality of circulating catecholamine level, Orthostatic hypotension, Dy... ORPHA:441
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Atrial flutter, Left bund... ORPHA:439232
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Diabetes mellitus, Hypertension, Polycystic ovaries ORPHA:79084
Dent Disease 2
Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Sanjad-Sakati Syndrome
Hypocalcemia, Hyperphosphatemia ORPHA:2323
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal hypoplasia, Proteinuria, Stage 5 ch... OMIM:616002
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hypoproteinemia, Elevated circulating creatine kinase concentration OMIM:615895
Paget Disease Of Bone 5, Juvenile-Onset
Hyperphosphatemia, Hydroxyprolinemia, Hyperuricemia OMIM:239000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Neuroendocrine neoplasm, Decreased circulating ACTH concentration, Depression, Emotional lability... ORPHA:189427
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Nephrotic Syndrome, Type 18
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:618177
Nephrotic Syndrome, Type 19
Stage 3 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:618178
Nephrotic Syndrome, Type 20
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmenta... OMIM:301028
Succinic Semialdehyde Dehydrogenase Deficiency
Hyperactivity, Elevated circulating gamma-aminobutyric acid concentration, Ataxia, Self-injurious... OMIM:271980
Cystinosis
Polydipsia, Hypokalemia, Gait disturbance, Hypophosphatemia, Motor stereotypy ORPHA:213
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:616032
Focal Segmental Glomerulosclerosis 10
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chron... OMIM:256020
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Hypertension, Polyphagia, Type II diabetes mellitus ORPHA:71529
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Renal insufficiency, Spontaneous, recurrent epistax... ORPHA:182050
Riboflavin Transporter Deficiency
Diabetes insipidus, Hypertension, Dysphagia, Hypogonadism, Aggressive behavior ORPHA:97229
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hematuria, Unilateral renal dysplasia, Hypoparathyroidism, Aplasia of the vagina, Aplasia of the ... OMIM:146255
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Ataxia OMIM:617575
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hypospadias, Adrenal hypoplasia, Renal cortical microcysts, Hydronephrosis,... OMIM:214100
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Emotional lability, Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Male pseudohermaphroditism, Adrenal hyperplasia, Adrenogenital syndrome, Primary am... OMIM:202110
Omenn Syndrome
Hypoproteinemia OMIM:603554
Lennox-Gastaut Syndrome
Hyperactivity, Irritability, Falls, Aggressive behavior ORPHA:2382
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Inability to walk, Hypoproteinemia, Gait disturbance, Hyponatremia, Ataxia,... ORPHA:167
Adenine Phosphoribosyltransferase Deficiency
Acute kidney injury, Atrial fibrillation, Recurrent urinary tract infections, Hypertension, Uric ... ORPHA:976
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Unsteady gait, Dysphagia, Gait ataxia OMIM:254900
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, H... ORPHA:85450
Pigmented Nodular Adrenocortical Disease, Primary, 2
Agitation, Decreased circulating ACTH concentration, Pigmented micronodular adrenocortical diseas... OMIM:610475
Nephrotic Syndrome, Type 16
Minimal change glomerulonephritis, Nephrotic syndrome, Hematuria, Proteinuria OMIM:617783
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration OMIM:608104
Mpi-Cdg
Hypoalbuminemia ORPHA:79319
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:308240
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Hyperactivity, Gait disturbance, Gait ataxia, Dysmetria OMIM:618090
Renal Hypoplasia
Abnormal renal tubule morphology, Polydipsia, Unilateral renal agenesis, Recurrent urinary tract ... ORPHA:93101
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormal circulating homocysteine concentration, Abnormal circulating methionine concentration, H... ORPHA:88618
Ochoa Syndrome
Polydipsia, Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Hyper... ORPHA:2704
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Low-molecular-weight proteinuria, Hypercalciuria, Hyposthenuria, Proximal tubulopathy, Beta 2-mic... OMIM:308990
Juvenile Huntington Disease
Irritability, Progressive cerebellar ataxia, Broad-based gait, Hyperactivity, Depression, Gait at... ORPHA:248111
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Hematuria, Thrombocytopenia, Proteinuria, Microangiopathic hemolytic anemia ORPHA:2134
Pparg-Related Familial Partial Lipodystrophy
Congestive heart failure, Maternal diabetes, Secondary amenorrhea, Hypertension, Hypertrophic car... ORPHA:79083
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia OMIM:608776
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Ischemic stroke, Decreased response to growth hormone stimulation test, Azoosper... ORPHA:280679
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hypophosphatemic rickets, Waddling gait, Hypophosphatemia, Increased circulating beta-C-terminal ... ORPHA:157215
Lipodystrophy, Familial Partial, Type 4
Oligomenorrhea, Hypertension, Insulin-resistant diabetes mellitus OMIM:613877
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Stress urinary incontinence, Ischemic stroke, Depression, Emotional lability, Hypertension, Trans... ORPHA:136
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... ORPHA:567548
Congenital Enterovirus Infection
Hyperammonemia, Irritability, Hypoalbuminemia ORPHA:292
Heme Oxygenase 1 Deficiency
Hematuria, Increased circulating interleukin 6 concentration, Hypertension, Asplenia, Nephritis, ... OMIM:614034
Kenny-Caffey Syndrome, Type 2
Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia OMIM:127000
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Decreased circulating carnitine concentration, Depression, Decreased circulating iron concentrati... ORPHA:89842
Wolcott-Rallison Syndrome
Difficulty walking, Hyperbilirubinemia, Hyperammonemia, Hyponatremia, Hypoalbuminemia ORPHA:1667
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Immunodeficiency 32B
Hypoalbuminemia OMIM:226990
Wagro Syndrome
Hypoplastic female external genitalia, Agitation, Emotional lability, Low frustration tolerance, ... OMIM:612469
Lipodystrophy, Familial Partial, Type 5
Decreased serum leptin, Hypertension, Decreased adiponectin level, Diabetic ketoacidosis, Irregul... OMIM:615238
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Ataxia, Self-injurious behavior, Aggressive behavior ORPHA:382
Multiple Endocrine Neoplasia, Type Iia
Elevated urinary vanillylmandelic acid, Pheochromocytoma, Thyroid C cell hyperplasia, Hypertensio... OMIM:171400
Porphyria Due To Ala Dehydratase Deficiency
Agitation, Increased erythrocyte protoporphyrin concentration, Abnormal fear-induced behavior, Di... ORPHA:100924
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Renal salt wasting, Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Eleva... OMIM:201910
Chronic Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T cell morphology, Anemi... OMIM:242900
Imerslund-Grasbeck Syndrome 2
Anemia, Recurrent urinary tract infections, Megaloblastic anemia, Proteinuria, Renal insufficienc... OMIM:618882
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Hematuria, Reticulocytosis, Thrombocytopenia, Proteinuria, Arrhythmia, Micro... ORPHA:54057
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Hypophosphatemia OMIM:193100
Rhabdoid Tumor
Irritability, Renal neoplasm, Hematuria, Anemia, Hypertension, Internal hemorrhage, Thrombocytopenia ORPHA:69077
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Ambiguous genitalia, Infertility, Hypertension, ... ORPHA:786
Peripartum Cardiomyopathy
Sinus tachycardia, Hypertension, Heart murmur, Myocarditis, Elevated jugular venous pressure, Pul... ORPHA:563
Macrophage Activation Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration, Elevated cir... ORPHA:158061
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Hypomagnesemia 3, Renal
Polydipsia, Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentratio... OMIM:248250
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Hypertension, Arrhythmia, Diabetes mell... OMIM:540000
Non-Functioning Paraganglioma
Congestive heart failure, Hematuria, Hypertension associated with pheochromocytoma, Sinus tachyca... ORPHA:94080
Renal Nutcracker Syndrome
Hematuria, Orthostatic hypotension, Anemia, Tachycardia, Infertility, Dyspareunia, Renal artery s... ORPHA:71273
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Medullary nephrocalcinosis, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Renal hyp... OMIM:611555
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Congestive heart failure, Increased circulating free T3, ... ORPHA:525731
Generalized Pustular Psoriasis
Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration ORPHA:247353
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Inability to walk, Hyperactivity, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal ... OMIM:618718
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insuffi... OMIM:166300
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Attention deficit hyperactivity disorder, Compulsive behaviors, Motor tics OMIM:619927
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia OMIM:617021
Acrodysostosis 1 With Or Without Hormone Resistance
Hyperphosphatemia OMIM:101800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Irritability, Hypocalcemic seizures, Difficulty walking, Hypocalcemia, Hypophosphatemia OMIM:264700
Acquired Partial Lipodystrophy
Microscopic hematuria, Lymphocytosis, Glomerulopathy, Proteinuria ORPHA:79087
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Depression, Macronodular adrenal hyperplasia, Hypertens... OMIM:615954
Avian Influenza
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Elevated circulating C-react... ORPHA:454836
Uremic Pruritus
Hypermagnesemia, Depression, Increased blood urea nitrogen, Hypercalcemia, Renal hypophosphatemia ORPHA:94059
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia OMIM:602579
Liddle Syndrome
Hypertension, Nephropathy, Cerebral ischemia, Arrhythmia, Renal insufficiency ORPHA:526
Partial Androgen Insensitivity Syndrome
Increased circulating antimullerian hormone concentration, Clitoral hypertrophy, Aplasia of the u... ORPHA:90797
Igg4-Related Retroperitoneal Fibrosis
Renal tubular epithelial necrosis, Hypertension, Impotence, Anorexia, Acute kidney injury, Normoc... ORPHA:49041
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Complete Androgen Insensitivity Syndrome
Delayed puberty, Blind vagina, Male infertility, Abnormal circulating follicle-stimulating hormon... ORPHA:99429
Hypophosphatemic Bone Disease
Hypophosphatemia OMIM:146350
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Unsteady gait, Self-mutilation, Aggressive behavior OMIM:615516
Alport Syndrome
Clitoral hypertrophy, Renal glomerular foam cells, Glomerular C3 deposition, Tubulointerstitial f... ORPHA:63
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Irritability, Self-mutilation OMIM:619487
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Abnormality of thyroid physiology, Anemia, Abnormal pr... ORPHA:1830
Renal Hypoplasia, Bilateral
Anemia, Decreased glomerular filtration rate, Hypertension, Vesicoureteral reflux, Beta 2-microgl... ORPHA:97362
Sporadic Pheochromocytoma/Secreting Paraganglioma
Congestive heart failure, Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal... ORPHA:276621
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Ataxia, Hyperphos... ORPHA:466650
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Carotid paraganglio... OMIM:168000
Oligomeganephronia
Polydipsia, Abnormal nephron morphology, Decreased glomerular filtration rate, Unilateral renal a... ORPHA:2260
Pheochromocytoma/Paraganglioma Syndrome 3
Chemodectoma, Adrenal pheochromocytoma, Elevated circulating catecholamine level, Paraganglioma, ... OMIM:605373
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Glomerular sclerosis, Hypercalciuria, Tubulointerstitial fibros... OMIM:310468
Hemorrhagic Fever-Renal Syndrome
Hyperkalemia, Agitation, Elevated circulating creatinine concentration, Hyperphosphatemia ORPHA:340
Denys-Drash Syndrome
Ambiguous genitalia, male, Enlarged kidney, Gonadal dysgenesis, Hypertension, Focal segmental glo... OMIM:194080
Pituitary Adenoma 4, Acth-Secreting
Abnormal fear-induced behavior, Emotional lability, Hypertension, Nephrolithiasis, Oligomenorrhea... OMIM:219090
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Decreased serum zinc OMIM:617093
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Inflammatory arteriopathy, Addictive alcohol use, Ce... ORPHA:31825
Sneddon Syndrome
Hypertension, Nephropathy, Intracranial hemorrhage ORPHA:820
Hepatoportal Sclerosis
Hypoalbuminemia, Hyperbilirubinemia ORPHA:64743
Prader-Willi Syndrome
Small pituitary gland, Decreased circulating gonadotropin concentration, Hypertension, Hypogonadi... ORPHA:739
Tsh-Secreting Pituitary Adenoma
Delayed puberty, Erectile dysfunction, Hypertension, Impotence, Female hypogonadism, Hypogonadism... ORPHA:91347
Vitamin D-Dependent Rickets, Type 2A
Irritability, Hypocalcemic seizures, Difficulty walking, Hypophosphatemia OMIM:277440
Nephronophthisis 1
Polydipsia, Polyuria, Nephronophthisis, Anemia, Hyposthenuria, Tubulointerstitial fibrosis, Tubul... OMIM:256100
Coenzyme Q10 Deficiency, Primary, 1
Anemia, Glomerular sclerosis, Recurrent myoglobinuria, Pancytopenia, Focal segmental glomeruloscl... OMIM:607426
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Precocious puberty in males, Clitoral hypert... OMIM:202010
Stiff Person Spectrum Disorder
Emotional lability, Difficulty walking, Exaggerated startle response, Falls ORPHA:3198
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Steppage gait, Hypotriglyceridemia, Broad-based gait, Hy... ORPHA:14
Acth-Independent Macronodular Adrenal Hyperplasia
Agitation, Decreased circulating ACTH concentration, Depression, Emotional lability, Macronodular... OMIM:219080
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Hypoalbuminemia, Increased circulating ferritin concentration ORPHA:540
Fanconi Renotubular Syndrome 5
Tubulointerstitial fibrosis, Hypertension, Glycosuria, Proteinuria, Stage 5 chronic kidney diseas... OMIM:618913
Tay-Sachs Disease
Psychomotor deterioration, Exaggerated startle response, Dementia OMIM:272800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Irritability, Gastrointestinal hemorrhage, Normocytic anemia, Glomerular sclerosis, Normochromic ... ORPHA:247691
Familial Hyperaldosteronism Type Iii
Polydipsia, Prolonged QT interval, Hypercalciuria, Hypertension, Abnormal circulating renin, Gluc... ORPHA:251274
Diarrhea 10, Protein-Losing Enteropathy Type
Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia OMIM:618183
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hypoalbuminemia ORPHA:367
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Sickle Cell Disease
Hematuria, Cholelithiasis, Hypertension, Leukocytosis, Splenic infarction, Hypoxemia, Priapism, T... OMIM:603903
Linear Verrucous Nevus Syndrome
Hypophosphatemia ORPHA:2611
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Irritability, Abnormal temper tantrums, Hyperactivity, Depression, Hypertension, Recurrent hand f... ORPHA:449291
Aa Amyloidosis
Abnormality of the kidney, Enlarged kidney, Acute kidney injury, Hypotension, Nephrotic syndrome,... ORPHA:85445
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia ORPHA:2111
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612925
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Takayasu Arteritis
Anorexia, Anemia, Vasculitis, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension, H... ORPHA:3287
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, Pulmonary embolism ORPHA:1345
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial fibrillation, Atrial flutter, Hypertension, Reduced left ventricular ejection fraction OMIM:620734
Hereditary Pheochromocytoma-Paraganglioma
Congestive heart failure, Hematuria, Extraadrenal pheochromocytoma, Glomerular sclerosis, Adrenal... ORPHA:29072
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Hypertension, Pericarditis, Abnormality of the kidney, Chronic lymph... ORPHA:91139
Alagille Syndrome 2
Hematuria, Renal tubular acidosis, Hypertension, Renal cyst, Pulmonic stenosis, Renal hypoplasia,... OMIM:610205
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Clitoral hypertrophy, Abnormal ovarian physi... ORPHA:90794
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Anemia, Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Renal ... OMIM:613092
Fabry Disease
Delayed puberty, Congestive heart failure, Urinary mulberry cells, Anemia, Angina pectoris, Hyper... OMIM:301500
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Glomerulopathy, Hematuria, Vasculitis, Hypertension, Trans... ORPHA:183
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Nephrotic syndrome, Hematuria, Proteinuria, Membranoproliferative glomerulonephritis OMIM:613913
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Proteinuria, Focal segmental glomerulosclerosis OMIM:614455
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... OMIM:619827
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Hypocalcemia, Difficulty walking, Hypophosphatemia OMIM:600081
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Inability to walk OMIM:617303
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting OMIM:618314
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Renal tubular dysfunction, Pancreatic hypoplasia, A... ORPHA:99885
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Hypoalbuminemia OMIM:235510
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Abnormality of the kidney, Irritability, Hypertrophic cardiomyopathy, Proteinuria ORPHA:369
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Elevated urinary norepinephrin... OMIM:171420
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612926
Caudal Regression Syndrome
Ureteral duplication, Maternal diabetes, Ectopic kidney, Hypertension, Vesicoureteral reflux, Imp... ORPHA:3027
Donnai-Barrow Syndrome
Abnormality of the uterus, Bicornuate uterus, Proteinuria, Umbilical hernia ORPHA:2143
Autosomal Dominant Kenny-Caffey Syndrome
Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany ORPHA:93325
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Delayed puberty, Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abno... ORPHA:95699
Coenzyme Q10 Deficiency, Primary, 6
Nephrolithiasis, Focal segmental glomerulosclerosis, Diffuse mesangial sclerosis, Proteinuria, St... OMIM:614650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia, Difficult... OMIM:241530
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Hypoalbuminemia OMIM:615508
Alport Syndrome 2, Autosomal Recessive
Hematuria, Hypertension, Nephrotic syndrome, Thickened glomerular basement membrane, Nephritis, P... OMIM:203780
Autoinflammatory-Pancytopenia Syndrome
Hemophagocytosis, Pancytopenia, Granuloma, Hepatosplenomegaly, Proteinuria, Membranoproliferative... OMIM:619858
Systemic Lupus Erythematosus 17
Hypertensive crisis, Leukopenia, Raynaud phenomenon, Thrombocytopenia, Lymphopenia, Autoimmune th... OMIM:301080
Renal Dysplasia
Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Hyp... ORPHA:93108
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Hematuria, Hemolytic-uremic syndrome, Anemia, Anuria, Hypertension, Thromboc... OMIM:612924
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypermagnesemia, Hypercalcemia, Hypophosphatemia OMIM:600740
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Proteinuria, Focal segmenta... OMIM:617731
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Microcephaly, Epilepsy, And Diabetes Syndrome 1
External genital hypoplasia, Cryptorchidism, Hypogonadism, Small scrotum, Diabetes mellitus, Mode... OMIM:614231
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities
Irritability, Inability to walk, Short attention span, Exaggerated startle response OMIM:617864
Optic Atrophy 11
Hyperactivity, Athetosis, Gait apraxia, Mildly elevated creatine kinase, Stereotypical body rocki... OMIM:617302
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior ORPHA:101039
Pigmented Nodular Adrenocortical Disease, Primary, 4
Emotional lability, Depression, Hypertension, Adrenal hyperplasia, Diabetes mellitus, Primary hyp... OMIM:615830
Hyperlysinemia, Type I
Hyperactivity, Hypoornithinemia, Hyperlysinemia, Dysdiadochokinesis OMIM:238700
Galloway-Mowat Syndrome 2, X-Linked
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Protei... OMIM:301006
Nephronophthisis 18
Nephronophthisis, Hypertension, Thickened glomerular basement membrane, Renal tubular atrophy, St... OMIM:615862
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Sneddon Syndrome
Ischemic stroke, Hypertension, Cerebral hemorrhage, Lymphopenia, Decreased circulating total IgM OMIM:182410
Liver Disease, Severe Congenital
Irritability, Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, H... OMIM:619991
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Hypophosphatemia OMIM:612287
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Inability to walk, Hyperactivity, Self-injurious behavior, Choreoathetosis, Aggressive behavior OMIM:620023
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Hypocholesterolemia, Ataxia, Dysmetria OMIM:212065
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal salt wasting, Anemia, Decreased glomerular filtration rate, Glomerular sclerosis, Tubuloint... OMIM:174000
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Werner Syndrome
Congestive heart failure, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Aplasia/Hypoplasia... ORPHA:902
Apparent Mineralocorticoid Excess
Polydipsia, Decreased circulating renin level, Hypertension, Abnormality of circulating cortisol ... ORPHA:320
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Abnormal circulating protein concentration ORPHA:86839
Familial Isolated Hyperparathyroidism
Hypercalcemia, Hypophosphatemia ORPHA:99879
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Polyuria, Hypercalciuria, Decreased circulating renin level, Hypertension, Adrenal hy... OMIM:613677
Familial Hyperaldosteronism Type I
Polydipsia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating renin, Hy... ORPHA:403
Anti-Glomerular Basement Membrane Disease
Glomerulopathy, Hematuria, Anemia, Vasculitis, Proteinuria, Renal insufficiency ORPHA:375
Corticosteroid-Binding Globulin Deficiency
Anemia, Hypertension, Hypotension, Decreased circulating cortisol level, Decreased urinary potassium OMIM:611489
Autosomal Dominant Hypophosphatemic Rickets
Hypocalcemia, Hypophosphatemia ORPHA:89937
Hyperparathyroidism, Neonatal Severe
Polydipsia, Calcinosis, Hypercalcemia, Hypophosphatemia OMIM:239200
Nephronophthisis 13
Nephronophthisis, Glomerular sclerosis, Mild proteinuria, Glomerular subepithelial immune-complex... OMIM:614377
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Agitation, Hypertension, Micropenis OMIM:613870
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Neoplasm of the adrenal gland, Hy... ORPHA:251992
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin... ORPHA:36234
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Hyp... OMIM:103900
Familial Cervical Artery Dissection
Hypertension, Transient ischemic attack, Cerebral ischemia, Recurrent cerebral hemorrhage, Subara... ORPHA:36382
Pituitary Apoplexy
Central diabetes insipidus, Decreased response to growth hormone stimulation test, Reduced circul... ORPHA:95613
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Renal insufficiency, Proteinuria, Normochromic anemia OMIM:245900
Hyperaldosteronism, Familial, Type Iv
Hypertension, Elevated aldosterone:renin ratio, Hyperaldosteronism OMIM:617027
Pseudo-Torch Syndrome 3
Acute kidney injury, Anemia, Hypertension, Leukocytosis, Proteinuria, Cerebral hemorrhage, Congen... OMIM:618886
Neuroblastoma
Irritability, Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemi... ORPHA:635
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Elevated circulating alpha-fetoprotein concentration OMIM:251880
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Nephronophthisis 2
Pulmonary insufficiency, Enlarged kidney, Nephronophthisis, Chronic tubulointerstitial nephritis,... OMIM:602088
Aicardi-Goutieres Syndrome 6
Irritability, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentratio... OMIM:615010
Hypocalcemic Vitamin D-Resistant Rickets
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:93160
Hypophosphatemic Rickets, X-Linked Dominant
Waddling gait, Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphat... OMIM:307800
Combined Oxidative Phosphorylation Deficiency 37
Hypoalbuminemia, Hyperalaninemia OMIM:618329
Glutaric Aciduria Iii
Goiter, Glutaric aciduria, Hypertension, Hyperthyroidism OMIM:231690
Renal Agenesis
Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena... ORPHA:411709
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Hypophosphatemia OMIM:612286
Juvenile Polyposis Syndrome
Hypoalbuminemia, Hypokalemia OMIM:174900
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Polydipsia, Hypertension, Abnormal circulating renin, Nephrolithiasis, Pulmonary arterial hyperte... ORPHA:369929
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Increased circulating ferritin concentration, Ataxia, Hyperproteinemia ORPHA:158048
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hypomagnesemia, Hyp... OMIM:619743
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Arrhythmia ORPHA:3222
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Decreased circulating renin level, Hypertension, Glucocortocoid-insensitive primary h... ORPHA:231580
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperactivity, Hyperinsulinemia, Hypertension ORPHA:363400
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni... OMIM:614817
Paternal Uniparental Disomy Of Chromosome 1
Delayed puberty, Enlarged kidney, Hypertension, Polyphagia, Episodic hemolytic anemia, Macroscopi... ORPHA:251004
Hypocalcemic Vitamin D-Dependent Rickets
Irritability, Hypocalcemic seizures, Difficulty walking, Hypocalcemia, Hypophosphatemia ORPHA:289157
Coenzyme Q10 Deficiency, Primary, 8
Renal dysplasia, Hypertension, Abnormal renal corticomedullary differentiation OMIM:616733
Cushing Disease
Decreased eosinophil count, Secondary amenorrhea, Depression, Emotional lability, Hypertension, I... ORPHA:96253
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Abnormal blood ion ... ORPHA:37042
Fanconi Renotubular Syndrome 2
Elevated circulating parathyroid hormone level, Decreased glomerular filtration rate, Renal phosp... OMIM:613388
Multiple Endocrine Neoplasia Type 1
Hematemesis, Adrenocortical abnormality, Neoplasm of the pancreas, Pheochromocytoma, Hypertension... ORPHA:652
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Depression, Hypertension, Hypothyroidism, Abnormality of the... ORPHA:77296
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:289548
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Proteinuria OMIM:620010
Senior-Boichis Syndrome
Polydipsia, Agitation, Tubular luminal dilatation, Chronic kidney disease, Anemia, Aggressive beh... ORPHA:84081
Posterior Urethral Valve
Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infections, Enuresis no... ORPHA:93110
Paroxysmal Nocturnal Hemoglobinuria
Hypertension, Abnormal erythrocyte enzyme concentration or activity, Impotence, Reticulocytosis, ... ORPHA:447
Cryoglobulinemia, Familial Mixed
Hematuria, Hypertension, Abnormal renal physiology, Proteinuria, Chronic kidney disease OMIM:123550
Alport Syndrome 3A, Autosomal Dominant
Hematuria, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular basement... OMIM:104200
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Delayed puberty, Absence of secondary sex characteristics, Ambiguous genitalia, male, Clitoral hy... ORPHA:168558
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Decreased circulating renin level, Hypertension, Neoplasm of the adrenal gland, Glucocortocoid-in... ORPHA:231625
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Renal salt wasting, Polyuria, Polydipsia, Hypocalciuria, Renal potassium wasting, Hypertension, E... OMIM:612780
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary vanillylmandelic acid, Anemia, Elevated ur... OMIM:256700
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerular sclerosis, Nephrotic syndrome, Proteinuria, Motor stereotypy, Glomerulone... OMIM:619428
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Megaloblastic anemia, Proteinuria OMIM:261100
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Abnormal renal morphology, Decreased numbers of nephrons, Atretic vas ... OMIM:137920
Tetanus
Bradycardia, Hypertension, Elevated urinary epinephrine level, Elevated urinary norepinephrine le... ORPHA:3299
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Hypertension, Nephrotic syndrome, Microscopic hematuria, Thickened glomerular... OMIM:301050
Wild Type Attr Amyloidosis
Congestive heart failure, Bradycardia, Atrial fibrillation, Renal insufficiency, Hypertrophic car... ORPHA:330001
Von Hippel-Lindau Disease
Myocarditis, Elevated urinary catecholamine level, Neoplasm of the pancreas, Pancreatic endocrine... ORPHA:892
Aromatic L-Amino Acid Decarboxylase Deficiency
Irritability, Torticollis, Oculogyric crisis, Tongue thrusting, Emotional lability, Athetosis, Bl... OMIM:608643
Fragile X-Associated Tremor/Ataxia Syndrome
Depression, Pollakisuria, Hypertension, Hypotension, Impotence, Urinary bladder sphincter dysfunc... ORPHA:93256
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Inappropriate antidiuretic hormone secretion, Epistaxis, ... ORPHA:99827
Porphyria, Acute Intermittent
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Depression, Hypertension, Dysur... OMIM:176000
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethio... OMIM:617156
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Diffuse Cutaneous Systemic Sclerosis
Congestive heart failure, Dyspareunia, Hypertensive crisis, Pulmonary arterial hypertension, Tela... ORPHA:220393
Mullerian Aplasia And Hyperandrogenism
Increased circulating androstenedione concentration, Unilateral renal agenesis, Aplasia of the va... OMIM:158330
Oncogenic Osteomalacia
Hypocalcemia, Hypophosphatemia, Gait disturbance ORPHA:352540
Ethylene Glycol Poisoning
Congestive heart failure, Renal tubular epithelial necrosis, Prolonged QT interval, Hematuria, De... ORPHA:31826
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Coach Syndrome 1
Occipital encephalocele, Nephronophthisis, Unilateral renal agenesis, Encephalocele, Hypertension... OMIM:216360
Alg12-Cdg
Hyponatremia, Hypocholesterolemia, Hypoalbuminemia ORPHA:79324
Neuraminidase Deficiency
Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Urinary excretion of sialylated o... OMIM:256550
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Thrombocytopenia, Proteinuria, Macrothrombocytopenia, Pulmonary hemorrhage,... OMIM:603585
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Reduced left ventricular ejection fraction, Sinus tachycardia, Hyperten... OMIM:614473
Amoebiasis Due To Entamoeba Histolytica
Hypoalbuminemia ORPHA:67
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Type I diabetes mellitus, Hydronephrosis, Moderate albuminuria OMIM:619269
Martin-Probst Syndrome
Pancytopenia, Hypoplastic nipples, Bifid scrotum, Hypothyroidism, Chordee, Proteinuria, Micropeni... OMIM:300519
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level, Hypertension OMIM:616069
Pierson Syndrome
Hypoproteinemia OMIM:609049
Postorgasmic Illness Syndrome
Depression, Palpitations, Hypertension, Irritability ORPHA:279947
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity, Depression, Hyperphenylalaninemia, Abnormal circu... OMIM:612716
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Dilated cardiomyopathy, Hypertension, Hypertrophic cardiomyopathy ORPHA:1349
Xfe Progeroid Syndrome
Hypoalbuminemia OMIM:610965
Supravalvular Aortic Stenosis
Angina pectoris, Hypertension, Systolic heart murmur, Arrhythmia, Syncope, Supravalvular aortic s... ORPHA:3193
Fanconi Renotubular Syndrome 1
Hypophosphatemia, Hypokalemia OMIM:134600
Papillorenal Syndrome
Hematuria, Horseshoe kidney, Hypertension, Mild proteinuria, Nephrolithiasis, Vesicoureteral refl... OMIM:120330
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Renal salt wasting, Polyuria, Anemia, Pancytopenia, Pulmonary arterial hypertension, Hyperechogen... OMIM:613845
Metaphyseal Chondrodysplasia, Jansen Type
Waddling gait, Hypercalcemia, Hypophosphatemia OMIM:156400
Tay-Sachs Disease
Inability to walk, Memory impairment, Depression, Tremor, Short attention span, Exaggerated start... ORPHA:845
Colchicine Poisoning
Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con... ORPHA:31824
X-Linked Creatine Transporter Deficiency
Hyperactivity, Athetosis, Ataxia, Abnormal circulating creatine concentration, Self-mutilation ORPHA:52503
Trichohepatoenteric Syndrome 1
Abnormality of iron homeostasis, Hypergalactosemia, Increased circulating iron concentration, Hyp... OMIM:222470
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Ataxia OMIM:251300
Stiff Skin Syndrome
Hypertension, Nephrolithiasis, Type II diabetes mellitus ORPHA:2833
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Developmental And Epileptic Encephalopathy 111
Sinus tachycardia, Hypertension, Nephrolithiasis, Premature ventricular contraction, Umbilical he... OMIM:620504
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Abnormal cardiovascular system physiology, Hypertension, Cardiomyopathy, Protei... ORPHA:79086
Erythrocytosis, Familial, 1
Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo... OMIM:133100
Galloway-Mowat Syndrome 3
Hypoalbuminemia OMIM:617729
Acute Intermittent Porphyria
Elevated urinary delta-aminolevulinic acid, Urinary incontinence, Increased urinary porphobilinog... ORPHA:79276
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Glomerular sclerosis, Emotional lability, Hypertension, Abnormal renal p... OMIM:223900
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Agitation, Hyperinsulinemia, Glycosuria, Proteinuria, Tachycardia, Hyperinsulinemic hypoglycemia,... ORPHA:263455
Porphyria Variegata
Elevated urinary delta-aminolevulinic acid, Anemia, Increased urinary porphobilinogen, Neurogenic... ORPHA:79473
Diffuse Alveolar Hemorrhage
Hematuria, Anemia, Leukocytosis, Hypoxemia, Thrombocytopenia, Proteinuria, Pulmonary venous hyper... ORPHA:90060
Car T Cell Therapy-Associated Cytokine Release Syndrome
Abnormal circulating cytokine concentration, Acute kidney injury, Heart block, Increased circulat... ORPHA:542323
Joubert Syndrome 14
Irritability, Encephalocele, Meningocele, Hypertension, Renal cyst, Intracranial hemorrhage OMIM:614424
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hypertension, Stage 5 chronic ... OMIM:618061
Beta-Ketothiolase Deficiency
Anorexia, Agitation, Hypertension, Leukocytosis, Hypotension, Oral aversion, Thrombocytosis, Keto... ORPHA:134
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Hypertension, Glucocortocoid-insensitive primary hyperaldosteronism, ... ORPHA:404
Gaisböck Syndrome
Hypertriglyceridemia, Hyperuricemia, Increased circulating renin level, Hyperproteinemia, Hyperch... ORPHA:90041
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Hypertension, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lymphopenia, Medu... ORPHA:99889
Juvenile Nephropathic Cystinosis
Polydipsia, Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic... ORPHA:411634
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Broad-based gait, Short attention span, Exaggerated startle response, Dystonia, Ataxia ORPHA:438216
Dent Disease
Low-molecular-weight proteinuria, Hematuria, Renal phosphate wasting, Tubulointerstitial fibrosis... ORPHA:1652
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus OMIM:608600
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Hypophosphatemia OMIM:605911
Ectopic Aldosterone-Producing Tumor
Renal cortical adenoma, Ovarian neoplasm, Decreased circulating renin level, Hypertension, Glucoc... ORPHA:231632
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Renal hypoplasia, Hypertension, Absence of renal corticomedullary differentiation, Umbilical hernia OMIM:619758
Cocaine Intoxication
Ischemic stroke, Acute kidney injury, Agitation, Prolonged QT interval, Hematuria, Supraventricul... ORPHA:90068
Wilson Disease
Decreased circulating ceruloplasmin concentration, Hypouricemia, Hyperbilirubinemia, Dysphagia, H... OMIM:277900
Paroxysmal Hemicrania
Restless legs, Diabetes mellitus, Hypertension ORPHA:157835
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Depression, Inability to walk, Exaggerated startle response OMIM:620114
Fabry Disease
Delayed puberty, Hypertension, Anorexia, Diabetes insipidus, Depression, Transient ischemic attac... ORPHA:324
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Anemia, Proteinuria, Renal insufficiency, Hyperparathyroidism ORPHA:2668
Postinfectious Vasculitis
Anorexia, Ischemic stroke, Hematuria, Increased circulating antibody level, Acrocyanosis, Increas... ORPHA:48435
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Decreased cir... OMIM:215250
Legionnaires Disease
Myocarditis, Anorexia, Hematuria, Lymphopenia, Hypotension, Pericarditis, Proteinuria, Splenomega... ORPHA:549
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Enlarged kidney, Anemia, Tubulointerstitial fibrosis, Thyroiditis, Hypertension,... ORPHA:79259
Marburg Hemorrhagic Fever
Anorexia, Hypokalemia, Hyperamylasemia, Elevated circulating creatine kinase concentration, Hyper... ORPHA:99826
Galloway-Mowat Syndrome 7
Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Nephrotic syndrome, Renal ... OMIM:618348
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Inability to walk ORPHA:505248
Pheochromocytoma
Congestive heart failure, Pheochromocytoma, Episodic hypertension, Renal artery stenosis, Elevate... OMIM:171300
Gitelman Syndrome
Delayed puberty, Polydipsia, Urinary incontinence, Prolonged QT interval, Neoplasm of the pancrea... ORPHA:358
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Acute kidney injury, Renal tubular epithelial necrosis, Vaginal stricture, Hematuria, N... ORPHA:95455
Stiff-Person Syndrome
Anemia, Depression, Hypertension, Tachycardia, Diabetes mellitus OMIM:184850
Nephronophthisis 3
Polydipsia, Polyuria, Enlarged kidney, Nephronophthisis, Hematuria, Tubulointerstitial fibrosis, ... OMIM:604387
Infantile Nephropathic Cystinosis
Polydipsia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia ORPHA:411629
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red... ORPHA:66529
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal salivary gland morphology, Increased serum testosterone level, Increas... ORPHA:2298
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Hypertension OMIM:615980
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Congenital nephrotic syndrome, Nephrotic syndrome, Diffuse me... OMIM:617730
Grange Syndrome
Hypertension, Aortic regurgitation ORPHA:79094
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Hypophosphatemia OMIM:616026
Galloway-Mowat Syndrome 10
Congenital hypothyroidism, Podocyte foot process effacement, Proteinuria, Diffuse mesangial scler... OMIM:619609
Melas
Wolff-Parkinson-White syndrome, Hypoparathyroidism, Anemia, Concentric hypertrophic cardiomyopath... ORPHA:550
Serotonin Syndrome
Acute kidney injury, Irritability, Agitation, Hypertension, Hypotension, Restlessness, Tachycardia ORPHA:43116
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hyperaldosteronism OMIM:605635
Secondary Intestinal Lymphangiectasia
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Decreased ci... ORPHA:90363
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Acute kidney injury, Increased circulating interleukin 6 concentration, Anuria, Hype... ORPHA:544482
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Recurrent myoglobinuria, Hypertrophic cardio... ORPHA:368
Distal 16P11.2 Microdeletion Syndrome
Abnormality of the kidney, Vesicoureteral reflux, Renal agenesis, Proteinuria, Chronic kidney dis... ORPHA:261222
Mayer-Rokitansky-Kuster-Hauser Syndrome
Abnormal female external genitalia morphology, Aplasia of the upper vagina, Hypoplasia of the ute... OMIM:277000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
3-Methylglutaconic aciduria, Hypospadias, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia, ... OMIM:614052
Methylcobalamin Deficiency Type Cble
Glomerulopathy, Hemolytic-uremic syndrome, Macrocytic anemia, Pancytopenia, Increased mean corpus... ORPHA:2169
Fanconi-Bickel Syndrome
Increased serum bile acid concentration, Hypokalemia, Hypouricemia, Hyperbilirubinemia, Hypergala... OMIM:227810
Alstrom Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Hyperinsulinemia... OMIM:203800
Phosphoglycerate Kinase 1 Deficiency
Exercise-induced myoglobinuria, Emotional lability, Reticulocytosis, Erythroid hyperplasia, Renal... OMIM:300653
Spondyloenchondrodysplasia
Autoimmune hemolytic anemia, Decreased response to growth hormone stimulation test, Hematuria, Pa... ORPHA:1855
Gm2-Gangliosidosis, Ab Variant
Dystonia, Exaggerated startle response, Dementia OMIM:272750
Hypophosphatemic Rickets, X-Linked Recessive
Hypophosphatemic rickets, Hypophosphatemia OMIM:300554
Arima Syndrome
Polydipsia, Polyuria, Nephronophthisis, Hematuria, Anemia, Tubulointerstitial fibrosis, Polycysti... OMIM:243910
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Hypoalbuminemia, Hypercholesterolemia, Conjugated hyper... ORPHA:186
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Prostatitis, Hematuria, Glomerulopathy, Diabetes insipidus, Angina p... ORPHA:900
Coach Syndrome 2
Hypertension, Hyperechogenic kidneys OMIM:619111
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Elevated urinary catecholamine level, Elevated ur... ORPHA:653
Mercury Poisoning
Anorexia, Acute kidney injury, Hypertension, Hypotension, Tachycardia ORPHA:330021
Alagille Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Spina bifida occulta, Hypertension, Abnormality of the... ORPHA:52
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Agitation, Truncal titubation, Tremor, Exaggerated startle response, Gait ataxia, Dysmetria OMIM:618056
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Mitral regurgitation, Renal insufficiency OMIM:173900
Polyarteritis Nodosa
Abnormality of the kidney, Hypertension, Cardiomyopathy, Pericarditis, Raynaud phenomenon ORPHA:767
Overlap Myositis
Abnormality of the kidney, Hypertension, Pulmonary arterial hypertension, Leukopenia, Raynaud phe... ORPHA:206572
Leukodystrophy, Hypomyelinating, 13
Irritability, Ataxia, Exaggerated startle response OMIM:616881
Liddle Syndrome 1
Decreased circulating renin level, Hypertension, Renal insufficiency, Decreased circulating aldos... OMIM:177200
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrogenic diabetes insipidus, Glycosuria, Nephrocalcinosis, Proteinuria... OMIM:613404
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Decreased glomerular filtration rate, Nephrotic syndrome, Proteinuria, Dysphagia, Chronic kidney ... ORPHA:488627
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Anemia, Renal tubular acidosis, Myoglobinuria, Cardiomyopathy, Abnormal erythroc... ORPHA:264580
Argininemia
Anorexia, Spastic gait, Irritability, Hyperactivity, Hyperargininemia, Hyperammonemia OMIM:207800
Pediatric Systemic Lupus Erythematosus
Hematuria, Abnormality of the urinary system, Lymphopenia, Nephrotic syndrome, Nephritis, Leukope... ORPHA:93552
Nelson Syndrome
Anterior hypopituitarism, Diabetes insipidus, Secondary hypercortisolism, Adrenocorticotropic hor... ORPHA:199244
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating androstenedione concentration, Clitoral hypertrophy, Decreased circulating ... OMIM:201750
Tuberous Sclerosis Complex
Hyperactivity, Pheochromocytoma, Hypertension, Impulsivity, Pituitary adenoma, Parathyroid adenom... ORPHA:805
Malakoplakia
Prostate neoplasm, Hematuria, Dysuria, Urinary hesitancy, Urinary urgency, Orchitis, Abnormality ... ORPHA:556
Pseudoxanthoma Elasticum
Congestive heart failure, Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Weak pulse,... OMIM:264800
Dent Disease 1
Low-molecular-weight proteinuria, Renal phosphate wasting, Hypercalciuria, Proximal tubulopathy, ... OMIM:300009
Bardet-Biedl Syndrome 1
Abnormality of the kidney, Hypertension, Abnormality of the ovary, Nephrogenic diabetes insipidus... OMIM:209900
Congenital Disorder Of Glycosylation, Type Iiw
Anemia, Bile duct proliferation, Microscopic hematuria, Thrombocytopenia, Splenomegaly, Membranop... OMIM:619525
Cockayne Syndrome Type 1
Anemia, Hypertension, Cryptorchidism, Proteinuria, Male hypogonadism, Renal insufficiency ORPHA:90321
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hematemesis, Enlarged kidney, Tubulointerstitial fibrosis, Polycystic kidney dysplasia, Hypertens... OMIM:263200
Bardet-Biedl Syndrome
Hypoplasia of penis, Hypoplasia of the ovary, Abnormality of the endocrine system, Hypertension, ... ORPHA:110
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia ORPHA:79396
Cystinosis, Nephropathic
Delayed puberty, Polydipsia, Generalized aminoaciduria, Primary hypothyroidism, Splenomegaly, Dys... OMIM:219800
Primary Sclerosing Cholangitis
Depression, Hypoalbuminemia ORPHA:171
Scorpion Envenomation
Myocarditis, Congestive heart failure, Acute kidney injury, Prominent U wave, Hypertension, Prema... ORPHA:466677
Kawasaki Disease
Hypoalbuminemia, Irritability, Elevated circulating C-reactive protein concentration ORPHA:2331
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Agitation, Anemia, Pancytopenia, Vasculitis, Renal artery aneurysm, Hypertension, Decreased circu... OMIM:615688
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism OMIM:145260
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, Nephrolithi... OMIM:232220
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Acute kidney injury, Hemolytic-uremic syndrome, Hematuria, Bradycardia, Cystathioninuria, Homocys... OMIM:277400
Nephroblastoma
Nephroblastoma, Hypertension, Hematuria ORPHA:654
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Abnormal natural killer cell count, ... ORPHA:79124
Smith-Lemli-Opitz Syndrome
Hyperactivity, Elevated circulating 7-dehydrocholesterol concentration, Hypoalbuminemia, Hypochol... OMIM:270400
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Irritability, Anuria, Hypertension, Leukocytosis, Reticulocytosis, Thrombocy... ORPHA:90038
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Motor stereotypy, Attention deficit hyperactivity disorder, Aggressive beh... OMIM:610042
Mayer-Rokitansky-Küster-Hauser Syndrome
Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t... ORPHA:3109
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hypophosphatemia ORPHA:2088
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Proteinuria, Stage 5 chronic kidney di... ORPHA:650
Gaucher Disease, Type I
Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Epist... OMIM:230800
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Hypertension, Renal hypoplasia, Hyperechogenic kidneys, Renal ins... OMIM:617595
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hypertension, Premature thelarche, Nodular goiter, Atrioventricular block, Type I diabetes mellit... ORPHA:371428
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Chronic tubulointerstitial nephritis, Renal hypoplasia, Proteinuria, Stage 5 chronic kidney disea... OMIM:614376
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Recurrent urinary tract infections, Polycystic kidney dysplasia, Hypertension, Multiple renal cys... OMIM:613095
Immunodeficiency 82 With Systemic Inflammation
Anorexia, Hypernatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration OMIM:619381
Somatomammotropinoma
Anterior hypopituitarism, Depression, Hypertension, Dysuria, Impotence, Hypertrophic cardiomyopat... ORPHA:314769
Monosomy 18P
Hypothyroidism, Hypertension ORPHA:1598
Glycogen Storage Disease Ia
Delayed puberty, Enlarged kidney, Decreased glomerular filtration rate, Hypertension, Nephrolithi... OMIM:232200
Acromegaly
Anterior hypopituitarism, Long penis, Abnormality of the endocrine system, Depression, Hypertensi... ORPHA:963
Polycythemia Vera
Acute leukemia, Gastrointestinal hemorrhage, Thrombocytosis, Angina pectoris, Hypertension, Budd-... ORPHA:729
Free Sialic Acid Storage Disease
Nephrotic syndrome, Splenomegaly, Proteinuria ORPHA:834
Papa Syndrome
Type I diabetes mellitus, Increased circulating antibody level, Proteinuria ORPHA:69126
Alexander Disease
Depression, Emotional lability, Hypertension, Hypotension, Hypothyroidism, Precocious puberty, Dy... ORPHA:58
Juvenile Polyposis Syndrome
Hypoproteinemia ORPHA:2929
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Anemia, Hypertrophic cardiomyopathy, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Prote... ORPHA:436271
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Decreased circulating renin level, Hypertension, Nephrolithiasis, Pulmonary arterial hypertension... OMIM:615474
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Acute kidney injury, Hematuria, Decreased glomerular filtration... ORPHA:94088
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Hypertension, Bifid scrotum, Prominent scrotal raphe, Umbilical hernia, Cryptorchidism ORPHA:1555
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Vasculitis, Proteinuria, Splenomegaly, Re... ORPHA:91138
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Premature pubarche, Oral-pharyngeal dysphagia, Prolonged QTc interval, Myoglobinuria, Cardiac arr... OMIM:616878
Hypouricemia, Renal, 1
Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical... OMIM:220150
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Renal tubular acidosis, Myoglobinuria, Oligomenorrhea, Dysmenorrhea, Splenomegaly, Polycy... ORPHA:79240
Congenital Nephrotic Syndrome, Finnish Type
Abnormal renal tubule morphology, Nephrotic syndrome, Proteinuria ORPHA:839
Alopecia Universalis
Type I diabetes mellitus, Hypertension, Abnormality of the thyroid gland ORPHA:701
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypothyroidism, Hypertension OMIM:617763
Glycogen Storage Disease Ic
Delayed puberty, Hematuria, Decreased glomerular filtration rate, Spider hemangioma, Hypertension... OMIM:232240
Rajab Interstitial Lung Disease With Brain Calcifications 1
Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia OMIM:613658
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Transient ischemic attack, Reticulocytosis, Microscopic hematuria, Abn... OMIM:274150
Juvenile Polyposis Of Infancy
Hypoalbuminemia ORPHA:79076
Hereditary Fructose Intolerance
Hypermagnesemia, Hypophosphatemia, Hyperuricemia ORPHA:469
Acute Interstitial Pneumonia
Hypoxemia, Hypertension, Cyanosis, Reduced hematocrit ORPHA:79126
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension OMIM:600666
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a... ORPHA:1359
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Glycosuria, Hyperphosphaturia, Renal insufficiency, Aminoaciduria OMIM:615605
Infant Botulism
Anorexia, Hypertension, Cardiac arrest, Hypotension, Dysphagia ORPHA:178478
Pauci-Immune Glomerulonephritis
Small vessel vasculitis, Acute kidney injury, Decreased glomerular filtration rate, Arteritis, Gl... ORPHA:93126
Fibrous Dysplasia Of Bone
Difficulty walking, Hypercalcemia, Hypophosphatemia, Antalgic gait ORPHA:249
Sandhoff Disease
Ataxia, Progressive psychomotor deterioration, Exaggerated startle response OMIM:268800
Mitochondrial Trifunctional Protein Deficiency 2
Recurrent myoglobinuria, Myoglobinuria, Hypotension, Tricuspid regurgitation, Cerebral hemorrhage... OMIM:620300
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:605115
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hemolytic-uremic syndrome, Anemia, Schistocytosis, Lymphopenia, Leukopenia, Proteinuria, Hyperech... OMIM:301110
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Hematuria, Retinal hemorrhage, Vasculitis in the skin, Punctate vasc... OMIM:192315
Donnai-Barrow Syndrome
Bicornuate uterus, Non-acidotic proximal tubulopathy, Proteinuria, Umbilical hernia OMIM:222448
Seckel Syndrome 10
Congestive heart failure, Hypertension, Glycosuria, Elevated circulating follicle stimulating hor... OMIM:617253
Hyperparathyroidism-Jaw Tumor Syndrome
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:99880
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Hemolytic-uremic syndrome, Anuria, Hypertension, Reticulocytosis, Thrombocyt... OMIM:235400
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval OMIM:615378
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Anemia, Hypertrophic cardiomyopathy, Glycosuria, Hyperphosphaturia, Renal Fanconi syndrome, Prote... OMIM:220110
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Inability to walk, Exaggerated startle response OMIM:609541
Thyrotoxic Periodic Paralysis
Hyperkalemia, Transient hypophosphatemia, Episodic hypokalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Glycogen Storage Disease V
Myoglobinuria, Failure to elevate ammonia on ischemic exercise, Dark urine OMIM:232600
Poliomyelitis
Anorexia, Irritability, Agitation, Hypertension, Hypovolemic shock, Hypotension, Dysphagia ORPHA:2912
Lymphatic Filariasis
Abnormality of the kidney, Hematuria, Urethral obstruction, Nephrotic syndrome, Hydrocele testis,... ORPHA:2035
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Abnormality of the female genitalia, Hematuria, Vaginal neoplasm, Proteinuria, Dysphagia, Chronic... ORPHA:1018
Alkaptonuria
Prostatitis, Black pigment gallstones, Hypertension, Nephrolithiasis, Aortic valve stenosis, Hypo... ORPHA:56
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c... ORPHA:35858
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Hypertension, Restrictive cardiomyopathy, Retinal h... ORPHA:758
Myhre Syndrome
Epispadias, External genital hypoplasia, Hypospadias, Hypertension, Cryptorchidism, Precocious pu... ORPHA:2588
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Nephroc... ORPHA:534
Parathyroid Carcinoma
Polydipsia, Hypophosphatemia, Hypercalcemia, Dysphagia ORPHA:143
Atypical Werner Syndrome
Delayed puberty, Congestive heart failure, Premature ovarian insufficiency, Renal neoplasm, Hyper... ORPHA:79474
Hardikar Syndrome
Hematemesis, Decreased serum insulin-like growth factor 1, Bladder exstrophy, Irritability, Hydro... OMIM:301068
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension OMIM:613320
Familial Dysautonomia
Abnormality of the kidney, Glomerulopathy, Orthostatic hypotension, Hypertension, Acrocyanosis, T... ORPHA:1764
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Nephrotic syndrome, Mild proteinuria, Decreased pineal volume, Focal segmental glomerulosclerosis OMIM:301108
Leiomyomatosis, Diffuse, With Alport Syndrome
Hematuria, Nephropathy, Microscopic hematuria, Thickened glomerular basement membrane, Abnormal r... OMIM:308940
Hyperthyroidism, Nonautoimmune
Hyperactivity, Increased circulating thyroglobulin concentration OMIM:609152
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Elevated urinary catecholamine level, Adrenal pheochromocytoma, Hypertension associ... OMIM:115310
Nephronophthisis-Like Nephropathy 1
Nephronophthisis, Tubular basement membrane disintegration, Hypertension, Renal tubular atrophy, ... OMIM:613159
Familial Cerebral Saccular Aneurysm
Hypertension, Transient ischemic attack, Subarachnoid hemorrhage, Intracranial hemorrhage ORPHA:231160
Hypocomplementemic Urticarial Vasculitis
Small vessel vasculitis, Glomerulopathy, Hematuria, Proteinuria, Splenomegaly, Renal insufficiency ORPHA:36412
Systemic Lupus Erythematosus
Anorexia, Hematuria, Pyuria, Depression, Hypertension, Leukopenia, Raynaud phenomenon, Proteinuri... ORPHA:536
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Pearson Syndrome
Hypokalemia, Hypocalcemia, Hyperalaninemia, Hypomagnesemia, Hypophosphatemia, Dysphagia, Ataxia ORPHA:699
Ohdo Syndrome
Small scrotum, Cryptorchidism, Proteinuria OMIM:249620
Primary Progressive Freezing Gait
Restless legs, Hypertension, Urinary incontinence, Dysphagia ORPHA:75567
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Livedoid Vasculopathy
Ischemic stroke, Anemia, Pancytopenia, Hypertension, Leukocytosis, Graves disease, Polycythemia, ... ORPHA:542643
Spastic Tetraplegia And Axial Hypotonia, Progressive
Ataxia, Exaggerated startle response OMIM:618598
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pheochromocytoma, Hypertension, Renal cell carcinoma, Polycythemia, Pap... OMIM:193300
Turner Syndrome Due To Structural X Chromosome Anomalies
Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, H... ORPHA:99413
Mosaic Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, H... ORPHA:99228
Monosomy X
Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, H... ORPHA:99226
Turner Syndrome
Delayed puberty, Renal hypoplasia/aplasia, Prolonged QT interval, Ectopic kidney, Hypertension, H... ORPHA:881
Pseudohypoaldosteronism Type 2
Hypertension ORPHA:757
Familial Mediterranean Fever
Depression, Vasculitis, Leukocytosis, Nephrotic syndrome, Pericarditis, Nephrocalcinosis, Orchiti... ORPHA:342
Hyperekplexia-Epilepsy Syndrome
Exaggerated startle response ORPHA:163985
Arteriosclerosis, Severe Juvenile
Delayed puberty, Anemia, Hypertension, Chronic kidney disease, Myocardial infarction OMIM:208060
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Cryptorchidism, Renal insufficiency, Proteinuria ORPHA:1307
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Difficulty walking, Exaggerated startle response ORPHA:320406
Leptospirosis
Anorexia, Hyperproteinemia ORPHA:509
Opsismodysplasia
Hypophosphatemia OMIM:258480
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Multiple bladder diverticula, Proteinuria, Heart murmur, Small scrotum, Cryptorchidism ORPHA:2728
Distal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Polydipsia, Hypocitraturia, Decreased glomerular filtration rat... ORPHA:18
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Anemia, Adrenocortical adenoma, Pheochromocytoma, Adrenal ... ORPHA:139411
Ddost-Cdg
Primary hypothyroidism, Nephrotic range proteinuria ORPHA:300536
Juvenile Paget Disease
Hypertension ORPHA:2801
Cockayne Syndrome A
Renal insufficiency, Hypertension, Thymic hormone decreased, Proteinuria, Hypogonadism, Arrhythmi... OMIM:216400
Autosomal Dominant Dopa-Responsive Dystonia
Hypothyroidism, Hypertension, Compulsive behaviors, Depression ORPHA:98808
Liddle Syndrome 2
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:618114
Liddle Syndrome 3
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:618126
Williams Syndrome
Hypoplasia of penis, Hypertension, Cerebral ischemia, Pulmonic stenosis, Nephrocalcinosis, Multip... ORPHA:904
Apparent Mineralocorticoid Excess
Decreased circulating renin level, Hypertension, Decreased circulating aldosterone level OMIM:218030
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Irritability, Mild proteinuria, Bilateral cryptorchidism OMIM:619685
Aicardi-Goutieres Syndrome 7
Hematemesis, Irritability, Anemia, Increased circulating antibody level, Pancytopenia, Vasculitis... OMIM:615846
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal tubular epithelial necrosis, Myoglobinuria, Red-brown urine, Stage 5 chronic kidney disease... ORPHA:228302
Hellp Syndrome
Acute kidney injury, Decreased mean corpuscular hemoglobin concentration, Hypotension, Internal h... ORPHA:244242
Hurler Syndrome
Angina pectoris, Depression, Hypertension, Cardiomyopathy, Mucopolysacchariduria, Splenomegaly ORPHA:93473
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Agel Amyloidosis
Depression, Cardiomyopathy, Abnormal spleen morphology, Proteinuria, Orthostatic hypotension due ... ORPHA:85448
Arterial Tortuosity Syndrome
Ischemic stroke, Aortic regurgitation, Hypertension, Aortic valve stenosis, Umbilical hernia, Tel... OMIM:208050
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Renal duplication, Proteinuria, Arrhythmia, D... ORPHA:33001
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Extracranial Carotid Artery Aneurysm
Arteritis, Vasculitis, Hypertension, Cerebral ischemia, Subarachnoid hemorrhage, Diabetes mellitus ORPHA:494424
Majeed Syndrome
Glomerulopathy, Hypochromic microcytic anemia, Leukocytosis, Microscopic hematuria, Splenomegaly,... ORPHA:77297
Cirrhosis, Familial
Increased level of L-fucose in urine, Hypertension, Pulmonary arterial hypertension OMIM:215600
Au-Kline Syndrome
Hypertension, Lipomyelomeningocele, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, Chroni... OMIM:616580
Immunoglobulin A Vasculitis
Anorexia, Gastrointestinal hemorrhage, Glomerulopathy, Hematuria, Vasculitis, Orchitis, Proteinur... ORPHA:761
Multiple Mitochondrial Dysfunctions Syndrome 7
Irritability, Agitation, Hyperactivity, Exaggerated startle response, Impulsivity, Dystonia OMIM:620423
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury, Hemolytic anemia, Arrhythmia ORPHA:57
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Proteinuria, Tubulointerstitial nephritis OMIM:616901
Lysinuric Protein Intolerance
Argininuria, Decreased glomerular filtration rate, Increased circulating antibody level, Renal fi... ORPHA:470
Lipodystrophy, Familial Partial, Type 2
Hyperinsulinemia, Hypertension, Type II diabetes mellitus, Labial pseudohypertrophy, Polycystic o... OMIM:151660
Acute Transverse Myelitis
Urinary incontinence, Orthostatic hypotension, Hypertension, Urinary retention, Urinary bladder s... ORPHA:139417
Primary Fanconi Renotubular Syndrome
Bicarbonaturia, Hypophosphatemic rickets, Hypokalemia, Decreased circulating carnitine concentrat... ORPHA:3337
Myoglobinuria, Autosomal Dominant
Acute kidney injury, Myoglobinuria OMIM:160010
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hypertension, Renal artery stenosis, Renal hypoplasia, Nephrocalcinosis, Hydronephrosis, Splenome... OMIM:617913
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Dysphagia, Exaggerated startle response, Cognitive impairment OMIM:617527
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Myoglobinuria, Recurrent
Exercise-induced myoglobinuria, Recurrent myoglobinuria OMIM:550500
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dilated cardiomyopathy, Dicarboxylic aciduria, Hypertrophic cardiomyopathy OMIM:231530
Multicystic Dysplastic Kidney
Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Hypertension, Ve... ORPHA:1851
Beare-Stevenson Cutis Gyrata Syndrome
Hypospadias, Hypertension, Bifid scrotum, Prominent scrotal raphe, Hypoplastic labia majora OMIM:123790
Proximal Renal Tubular Acidosis
Low-molecular-weight proteinuria, Bicarbonaturia, Global proximal tubulopathy, Polydipsia, Hyperc... ORPHA:47159
Raine Syndrome
Hypophosphatemia OMIM:259775
Mccune-Albright Syndrome
Hypophosphatemia ORPHA:562
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Reticulocytosis, Decreased hemoglobin concentration, Renal insufficiency, Hemolyti... ORPHA:713
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Prolonged QT interval, Fasting hyperinsulinemia, Myoglobinuria, Hypertroph... ORPHA:71212
Familial Hypocalciuric Hypercalcemia
Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia ORPHA:405
Orofaciodigital Syndrome I
Polycystic kidney dysplasia, Hypertension, Myelomeningocele, Ovarian cyst, Proteinuria, Pancreati... OMIM:311200
Central Hypoventilation Syndrome, Congenital, 3
Episodic hypertension OMIM:619483
Hallermann-Streiff Syndrome
Hyperactivity, Hypertension, Pulmonary arterial hypertension, Spina bifida, Cryptorchidism, Telan... OMIM:234100
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Pseudohypoaldosteronism, Type Iic
Decreased circulating renin level, Hypertension, Pseudohypoaldosteronism OMIM:614492
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Hypertension, Reticulocytosis, Episodic hemolytic anemia, Stom... ORPHA:90044
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Hypothyroidism, Microcytic anemia, Ketonuria, Neutrop... OMIM:251900
Nail-Patella Syndrome
Hematuria, Spina bifida, Nephrotic syndrome, Proteinuria, Renal insufficiency, Glomerulonephritis OMIM:161200
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response OMIM:618201
Developmental And Epileptic Encephalopathy 8
Exaggerated startle response OMIM:300607
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Renal artery stenosis, Proteinuria, Nephropathy OMIM:209010
Aortic Arch Interruption
Absent pulse, Congestive heart failure, Blood pressure substantially higher in arms than legs, Ao... ORPHA:2299
Mucopolysaccharidosis Type 2
Abnormal temper tantrums, Hyperactivity, Hypertension, Cardiomyopathy, Impulsivity, Oppositional ... ORPHA:580
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Acute kidney injury, Ureteral duplication, Nephronophthisis, Anemia, Hypertension, Renal cyst, He... OMIM:266920
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Proteinuria, Nephropathy ORPHA:1765
Pseudohypoaldosteronism, Type Iib
Hypertension, Pseudohypoaldosteronism OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Pseudohypoaldosteronism OMIM:614495
Autosomal Recessive Polycystic Kidney Disease
Polydipsia, Acute kidney injury, Gastrointestinal hemorrhage, Enlarged kidney, Polycystic kidney ... ORPHA:731
Adult-Onset Still Disease
Myocarditis, Anemia, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Proteinuria ORPHA:829
Exstrophy-Epispadias Complex
Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Cystocele... ORPHA:322
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Renal tubular epithelial necrosis, Heart block, Dicarboxylic aciduria, Myoglobinuria, Polycystic ... ORPHA:228308
Glycogen Storage Disease Vii
Exercise-induced myoglobinuria, Hematuria, Cholelithiasis, Reticulocytosis, Reduced erythrocyte 2... OMIM:232800
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Delayed puberty, Congestive heart failure, Autoimmune hemolytic anemia, Abnormal circulating inte... ORPHA:391487
Cornelia De Lange Syndrome 1
Ectopic kidney, Hypospadias, Abnormal renal morphology, Hypoplastic male external genitalia, Vesi... OMIM:122470
Nestor-Guillermo Progeria Syndrome
Decreased serum leptin, Sinus tachycardia, Hypertension, Right bundle branch block, Pulmonary art... OMIM:614008
Carnitine Palmitoyltransferase Ii Deficiency
Renal tubular epithelial necrosis, Myoglobinuria, Polycystic kidney dysplasia, Red-brown urine, C... ORPHA:157
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myoglobinuria, Red-brown urine, Cardiomyopathy, Arrhythmia ORPHA:228305
Myopathy With Lactic Acidosis, Hereditary
Anemia, Myoglobinuria, Sideroblastic anemia, Leukopenia, Palpitations OMIM:255125
Hutchinson-Gilford Progeria Syndrome
Left ventricular systolic dysfunction, Aortic regurgitation, Angina pectoris, Pubertal developmen... ORPHA:740
Pseudohypoaldosteronism, Type Iie
Hypertension, Pseudohypoaldosteronism OMIM:614496
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Hyperekplexia 2
Exaggerated startle response OMIM:614619
Developmental And Epileptic Encephalopathy 49
Hyperactivity, Exaggerated startle response OMIM:617281
Bardet-Biedl Syndrome 20
Male hypogonadism, Micropenis, Proteinuria, Bilateral cryptorchidism OMIM:619471
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Acute kidney injury, Myoglobinuria OMIM:268200
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria, Cardiomyopathy ORPHA:119
Cockayne Syndrome
Delayed puberty, Urinary incontinence, Unilateral renal agenesis, Neurogenic bladder, Hypertensio... ORPHA:191
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Hypertension, Pulmonary arterial hypertension, Right ventricular ... OMIM:178600
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Scalp-Ear-Nipple Syndrome
Abnormality of the kidney, Ureteral duplication, Breast aplasia, Recurrent urinary tract infectio... ORPHA:2036
Arterial Calcification, Generalized, Of Infancy, 1
Congestive heart failure, Hypertension, Renal artery stenosis, Dilated cardiomyopathy, Myocardial... OMIM:208000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced myoglobinuria, Dicarboxylic aciduria, Reduced left ventricular ejection fraction... OMIM:201475
Low Phospholipid-Associated Cholelithiasis
Diabetes mellitus, Hypertension, Cholelithiasis, Liver abscess ORPHA:69663
Arterial Tortuosity Syndrome
Myocarditis, Congestive heart failure, Hypertension, Cardiac arrest, Hypertrophic cardiomyopathy,... ORPHA:3342
Mucopolysaccharidosis Type 2, Severe Form
Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Arrhythmia, Heart murmur, Sple... ORPHA:217085
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Hunter-Macdonald Syndrome
Aortic regurgitation, Hypospadias, Hypertension, Umbilical hernia, Mitral regurgitation OMIM:611962
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Anemia, Hypochromic microcytic anemia, Hypothyroidism, Mild proteinuria, Renal insufficiency OMIM:619147
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Mucopolysaccharidosis Type 2, Attenuated Form
Hypertension, Cardiomyopathy, Dermatan sulfate excretion in urine, Arrhythmia, Heart murmur, Sple... ORPHA:217093
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Becker Muscular Dystrophy
Myoglobinuria, Abnormal urinary color ORPHA:98895
Holoprosencephaly
Encephalocele, Hypoplasia of penis, Diabetes insipidus, Branchial anomaly, Anterior hypopituitari... ORPHA:2162
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperbilirubinemia, Hypophosphatemia, Hyperuricemia OMIM:229600
Marshall-Smith Syndrome
Hypertension, Premature ventricular contraction, Pulmonary arterial hypertension, Bilateral crypt... OMIM:602535
22Q11.2 Deletion Syndrome
Gastrointestinal hemorrhage, Corneal neovascularization, Hypertensive crisis, Multiple renal cyst... ORPHA:567
Telangiectasia, Hereditary Hemorrhagic, Type 2
Tongue telangiectasia, Hematemesis, Nail bed telangiectasia, Spontaneous, recurrent epistaxis, Na... OMIM:600376
Glycine Encephalopathy With Normal Serum Glycine
Dysphagia, Exaggerated startle response OMIM:617301
Williams-Beuren Syndrome
Abnormal renal morphology, Hypertension, Pulmonic stenosis, Early onset of sexual maturation, Nep... OMIM:194050
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Anisocytosis, ... OMIM:300908
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Cockayne Syndrome B
Hypertension, Proteinuria, Micropenis, Arrhythmia, Splenomegaly, Cryptorchidism, Renal insufficiency OMIM:133540
Alström Syndrome
Urinary incontinence, Precocious puberty in females, Primary hypothyroidism, Hypertension, Recurr... ORPHA:64
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Dilated cardiomyopathy, Myoglobinuria, Arrhythmia OMIM:609015
Combined Oxidative Phosphorylation Deficiency 58
Difficulty walking, Ataxia, Exaggerated startle response, Gait ataxia OMIM:620451
Carey-Fineman-Ziter Syndrome
Glandular hypospadias, Hydronephrosis, Hypertensive crisis ORPHA:1358
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Dilated cardiomyopathy, Exercise-induced myoglobinuria, Abnormal left ventricular function OMIM:607155
Paroxysmal Cold Hemoglobinuria
Autoimmune hemolytic anemia, Coombs-positive hemolytic anemia, Abnormal urinary color, Hemoglobin... ORPHA:90035
Gaucher Disease Type 3
Delayed puberty, Hematuria, Anemia, Increased circulating antibody level, Pancytopenia, Pulmonary... ORPHA:77261
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Elevated circulating creatini... OMIM:619534
Galloway-Mowat Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria ORPHA:2065
Microcephaly 29, Primary, Autosomal Recessive
Hyperactivity, Emotional lability, Ataxia OMIM:620047
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Tremor, Exaggerated startle response OMIM:620327
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Anorexia, Gastrointestinal hemorrhage, Hypertension, Cerebral ischemia, Intracranial hemorrhage, ... ORPHA:394
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Pulmonary insufficiency, Pancreatic cysts, Renal cyst, Bile duct proliferation, Nephritis, Protei... OMIM:208500
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Acute kidney injury, Exercise-induced myoglobinuria, Chronic kidney disease ORPHA:284426
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension OMIM:616914
Hyperekplexia 1
Exaggerated startle response OMIM:149400
Lmna-Related Cardiocutaneous Progeria Syndrome
Congestive heart failure, Hypertension, Aortic valve stenosis, Papillary renal cell carcinoma, Pu... ORPHA:363618
Orofaciodigital Syndrome Type 1
Renal insufficiency, Hypertension, Pancreatic cysts, Hydronephrosis, Proteinuria, Multicystic kid... ORPHA:2750
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Autosomal Recessive Hypophosphatemic Rickets
Renal hypophosphatemia, Hypophosphatemic rickets ORPHA:289176
Scalp-Ear-Nipple Syndrome
Congestive heart failure, Unilateral renal agenesis, Breast aplasia, Hypertension, Supraventricul... OMIM:181270
Autosomal Recessive Malignant Osteopetrosis
Hypocalcemia, Hypophosphatemia ORPHA:667
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response OMIM:608800
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio, Hypertension, Pulmonary arterial hypertensi... OMIM:619573
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Hypertension, Retinal hemorrhage, Bradycardia OMIM:614653
Nail-Patella Syndrome
Abnormality of the kidney, Hematuria, Nephrotic syndrome, Thickened glomerular basement membrane,... ORPHA:2614
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Smooth Muscle Dysfunction Syndrome
Hypertension, Pulmonary arterial hypertension, Cryptorchidism OMIM:613834
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Ischemic stroke, Aortic regurgitation, Hypertension, Transient ischemic attack, Hypovolemia, Suba... ORPHA:91387
Sandhoff Disease, Infantile Form
Exaggerated startle response ORPHA:309155
Plaa-Associated Neurodevelopmental Disorder
Impaired oropharyngeal swallow response, Dystonia, Exaggerated startle response ORPHA:521426
X-Linked Hypophosphatemia
Hypophosphatemia ORPHA:89936
Tubulointerstitial Nephritis And Uveitis Syndrome
Anorexia, Renal tubular epithelial necrosis, Renal lymphocytic tubulitis, Renal interstitial edem... ORPHA:91500
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased red cell hemolysis... OMIM:194380
Asparagine Synthetase Deficiency
Irritability, Tremor, Exaggerated startle response OMIM:615574
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Microscopic hematuria, Elliptocytosis, Proteinuria, Renal insufficiency ORPHA:86818
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353281
Gaucher Disease
Delayed puberty, Hematuria, Anemia, Cholelithiasis, Pancytopenia, Increased circulating antibody ... ORPHA:355
Tropical Endomyocardial Fibrosis
Hypoalbuminemia ORPHA:75565
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Anterior hypopituitarism, Pituitary hypoth... ORPHA:1435
Adams-Oliver Syndrome 1
Encephalocele, Hypertension, Imperforate hymen, Pulmonary arterial hypertension, Pulmonic stenosi... OMIM:100300
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Type II diabetes mellitus, Myocardial infarction OMIM:615812
Generalized Arterial Calcification Of Infancy
Irritability, Left ventricular systolic dysfunction, Cyanosis, Hypertension, Weak pulse, Transien... ORPHA:51608
Neurofibromatosis Type 1
Delayed puberty, Abnormality of the endocrine system, Pheochromocytoma, Hypertension, Abnormality... ORPHA:636
Osteootohepatoenteric Syndrome
Grade II vesicoureteral reflux, Anemia, Proteinuria OMIM:619377
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria, Cardiomyopathy ORPHA:206549
Neurofibromatosis, Type I
Pheochromocytoma, Hypertension, Renal artery stenosis, Spina bifida, Parathyroid adenoma OMIM:162200
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
Stage 5 chronic kidney disease, Proteinuria OMIM:219900
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:615399
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Anemia, Decreased erythrocyte fructose-1,6-bisphosphate aldol... OMIM:611881
Goodpasture Syndrome
Cyanosis, Anemia, Glomerular crescent formation, Cylindruria, Macroscopic hematuria, Proteinuria,... OMIM:233450
Cranioectodermal Dysplasia 2
Hypertension, Renal cyst, Bile duct proliferation, Splenomegaly, Renal insufficiency, Polysplenia OMIM:613610
Combined Oxidative Phosphorylation Deficiency 15
Hypertension, Shortened PR interval, Wolff-Parkinson-White syndrome OMIM:614947
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Hypertension, Cardiomyopathy, Renal artery stenosis, Pulmonary... ORPHA:3472
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria, Hemolytic anemia OMIM:612300
Aymé-Gripp Syndrome
Pericarditis, Breast hypoplasia, Proteinuria, Cryptorchidism ORPHA:1272
Lowe Oculocerebrorenal Syndrome
Low-molecular-weight proteinuria, Bicarbonaturia, Hyperphosphaturia, Renal Fanconi syndrome, Prox... OMIM:309000
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Lipodystrophy, Familial Partial, Type 7
Polyuria, Orthostatic hypotension, Hypertension, Pulmonary arterial hypertension, Dysphagia, Type... OMIM:606721
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Irritability, Dysphagia, Exaggerated startle response OMIM:618367
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Precocious puberty, Proteinuria, Cerebral hemorrhage, Motor stereotypy, Cryptorchidism OMIM:616682
17Q11 Microdeletion Syndrome
Delayed puberty, Elevated circulating parathyroid hormone level, Pheochromocytoma, Hypertension, ... ORPHA:97685
Blau Syndrome
Large vessel vasculitis, Abnormal salivary gland morphology, Anemia, Hypertension, Pulmonary arte... ORPHA:90340
Aorta Coarctation
Congestive heart failure, Hypertension, Pulmonary arterial hypertension ORPHA:1457
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypospadias, Hypertension, Hypertrophic cardiomyopathy, Dysphagia, Mitral regurgitation, Ketonuria OMIM:220111
Myhre Syndrome
Aortic valve stenosis, Hypertension, Cryptorchidism OMIM:139210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Exaggerated startle response OMIM:253800
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal fear-induced behavior, Emotional lability, Hyperactivity, Compulsive behaviors, Impulsiv... ORPHA:353277
Gm1 Gangliosidosis Type 1
Exaggerated startle response ORPHA:79255
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Polycystic kidney dysplasia, Hypertension, Renal cyst, Renal hypoplasia, Cryptorchidism, Micropenis OMIM:210710
Relapsing Polychondritis
Myocarditis, Large vessel vasculitis, Glomerulopathy, Hematuria, Pericarditis, Proteinuria, Renal... ORPHA:728
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Hypertension, Vesicovaginal fistula OMIM:300896
Familial Osteodysplasia, Anderson Type
Hypertension ORPHA:2769
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Vascular Ehlers-Danlos Syndrome
Hypospadias, Uterine rupture, Hypertension, Transient ischemic attack, Internal hemorrhage, Renov... ORPHA:286
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Corneal neovascularization, Hypospadias, Unilateral renal agenesis, Hypertension, Renal agenesis,... OMIM:308205
Mandibuloacral Dysplasia Progeroid Syndrome
Focal segmental glomerulosclerosis, Tricuspid regurgitation, Elevated hemoglobin A1c, Proteinuria... OMIM:619127
Pmm2-Cdg
Hypoalbuminemia, Reduced thyroxin-binding globulin, Ataxia ORPHA:79318
Blau Syndrome
Pericarditis, Hypertension OMIM:186580
Homozygous Familial Hypercholesterolemia
Renal steatosis, Angina pectoris, Hypertension, Renal artery stenosis, Mitral regurgitation, Hear... ORPHA:391665
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Hypertension, Aortic regurgitation, Heart murmur ORPHA:402075
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Attention deficit hyperactivity disorder, Exaggerated startle response, Dysphagia, Motor stereotypy OMIM:619522
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Inability to walk, Broad-based gait, Exaggerated startle response, Stereotypical hand wringing, D... ORPHA:438213
Keutel Syndrome
Pulmonic stenosis, Hypertension 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) Comttm1b(EUCOMM)Wtsi 29369447

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MGI Allele Allele Type Produced
Comttm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Comttm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Comttm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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