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Gene: Rhpn1 MGI:1098783

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Gene Summary

Name:
rhophilin, Rho GTPase binding protein 1
Synonyms:
Rhophilin,  Grbp

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
abnormal kidney morphology Rhpn1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating serum albumin level Rhpn1tm1b(KOMP)Wtsi HOM   Early adult 1.44×10-06
increased mean platelet volume Rhpn1tm1b(KOMP)Wtsi HOM Early adult 7.19×10-05
increased heart weight Rhpn1tm1b(KOMP)Wtsi HOM Early adult 4.03×10-08
abnormal heart morphology Rhpn1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased erythrocyte cell number Rhpn1tm1b(KOMP)Wtsi HOM   Early adult 6.50×10-05
increased circulating HDL cholesterol level Rhpn1tm1b(KOMP)Wtsi HOM Early adult 5.01×10-05
increased liver weight Rhpn1tm1b(KOMP)Wtsi HOM Early adult 1.68×10-05
decreased hemoglobin content Rhpn1tm1b(KOMP)Wtsi HOM Early adult 9.15×10-05
enlarged heart Rhpn1tm1b(KOMP)Wtsi HOM Early adult 0.00
decreased circulating total protein level Rhpn1tm1b(KOMP)Wtsi HOM   Early adult 8.26×10-05

Download data as:  TSV  XLS

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lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Epididymis  Section images heterozygote 50% (1 of 2)
Ileum  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (1 of 2)
Quadriceps  Section images heterozygote 50% (1 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Trigeminal V nerve  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Bone marrow N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote Not available
Cecum N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote Not available
Chest bone N/A heterozygote Not available
Colon N/A heterozygote 0.0% (0 of 2)
Diaphragm N/A heterozygote 0.0% (0 of 2)
Duodenum N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Gonadal fat pad N/A heterozygote 0.0% (0 of 2)
Harderian gland N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote Not available
Mammary gland N/A heterozygote 0.0% (0 of 2)
Mesenteric adipose tissue N/A heterozygote 0.0% (0 of 2)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Parotid gland N/A heterozygote 0.0% (0 of 2)
Penis N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote Not available
Peyer's patch N/A heterozygote Not available
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Sciatic nerve N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote Not available
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 50% (1 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote Not available
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Tongue N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vagina N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote Not available
Vesicular gland N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote Not available
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
blood
bone marrow
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
chest bone
colon
diaphragm 0.0%
duodenum 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland
heart 0.0%
hindlimb 0.0%
hippocampus 0.0%
hypothalamus 0.0%
ileum 0.0%
jejunum
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%
mesenteric adipose tissue 0.0%
mesenteric lymph node
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
stomach pyloric region 0.0%
striatum 0.0%
sublingual gland 0.0%
submandibular gland 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
tongue 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vagina 0.0%
vas deferens Unavailable
vascular system 0.0%
vesicular gland Unavailable
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

View images
Adult LacZ

LacZ Images Section

31 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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X-ray

XRay Images Hind Leg and Hip

10 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

10 Images

View images
X-ray

XRay Images Forepaw

10 Images

View images

Human diseases caused by Rhpn1 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.

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

The table below shows human diseases predicted to be associated to Rhpn1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Proteinuria, Chronic Benign
Albuminuria, Renal insufficiency, Proteinuria OMIM:618884
Uridine-Cytidineuria
Elevated urinary uridine level, Elevated urinary cytidine OMIM:618477
Sedoheptulokinase Deficiency
Increased urinary sedoheptulose OMIM:617213
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Nephrotic Syndrome, Type 23
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... OMIM:619201
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Pentosuria
Abnormality of urine homeostasis OMIM:260800
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... OMIM:615573
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... OMIM:613237
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria OMIM:607832
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Nephrotic Syndrome, Type 16
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis OMIM:617783
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:600995
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... OMIM:308990
Hyperprolinemia Type 1
Nephropathy, Proteinuria, Prolinuria ORPHA:419
Hematuria, Benign Familial, 2
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology OMIM:620320
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... OMIM:614377
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbili... OMIM:619868
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... OMIM:619155
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease OMIM:614455
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Focal Segmental Glomerulosclerosis 1
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... OMIM:603278
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:614199
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... OMIM:616818
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:2613
Nephrotic Syndrome, Type 15
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... OMIM:617609
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:613944
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Cardiomegaly ORPHA:88643
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Paroxysmal Nocturnal Hemoglobinuria 1
Paroxysmal nocturnal hemoglobinuria OMIM:300818
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis OMIM:161900
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating aspartate aminotransferase... OMIM:613752
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... ORPHA:656
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis OMIM:617006
Myoglobinuria, Recurrent
Recurrent myoglobinuria, Exercise-induced myoglobinuria OMIM:550500
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Elevated circulating alanine aminotransf... OMIM:618805
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Bleeding Disorder, Platelet-Type, 16
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... OMIM:187800
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:616730
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Hemoglobin H Disease
Hepatomegaly, Hemolytic anemia, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Nephrotic Syndrome, Type 10
Nephrotic syndrome, Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minim... OMIM:615861
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Splenomegaly, Thrombocytopenia, Giant platelets, El... OMIM:210250
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... OMIM:256300
Ethanolaminosis
Cardiomegaly OMIM:227150
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst OMIM:617056
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:613913
Hemophagocytic Lymphohistiocytosis, Familial, 2
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hyponatremia, Hypertriglyceridemia, Sp... OMIM:603553
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Reduce... OMIM:611555
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerular deposits, Glomerulonephritis ORPHA:69063
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Ascites, Hypoproteinemia, ... OMIM:226300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly OMIM:604765
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... ORPHA:567548
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Refractory Celiac Disease
Elevated hepatic transaminase, Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased... ORPHA:398063
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal cardiac septum morphology, Abnormal hemoglobin, Anemia ORPHA:3319
Hepatorenocardiac Degenerative Fibrosis
Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ... OMIM:619902
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Dengue Fever
Hepatomegaly, Leukopenia, Ascites, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Imerslund-Grasbeck Syndrome 2
Proteinuria OMIM:618882
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Myh9-Related Disease
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Increased mean platelet volume, ... ORPHA:182050
Galloway-Mowat Syndrome 6
Nephrotic syndrome, Proteinuria, Focal segmental glomerulosclerosis OMIM:618347
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Focal segmental glomerulosclerosis, Nephrotic s... ORPHA:347
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Spleno... ORPHA:507
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Enlarged kidney OMIM:615285
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Hepatoportal Sclerosis
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... ORPHA:64743
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... ORPHA:158061
Indolylacroyl Glycinuria With Mental Retardation
Hyperglycinuria OMIM:243050
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus OMIM:161950
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Iminoglycinuria
Hydroxyprolinuria, Hyperglycinuria, Prolinuria OMIM:242600
Phosphohydroxylysinuria
Phosphohydroxylysinuria OMIM:615011
Cystathioninuria
Cystathioninuria OMIM:219500
Beta-Aminoisobutyric Aciduria
Beta-aminoisobutyric aciduria OMIM:210100
Reni Syndrome
Diffuse mesangial sclerosis, Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney dise... OMIM:617575
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Nephrotic syndrome, Membranoproliferative glomerulonephritis, Proteinuria OMIM:608709
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... OMIM:618348
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Peritoneal effusion, Pericardial effusion, Ascites, Hypoalbuminemia, Hypocalcemi... ORPHA:90362
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat... OMIM:241600
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Hypoalbuminemia, Thrombocytosis, Anemia, Histiocy... OMIM:209950
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... OMIM:155100
Phenylketonuria
Aminoaciduria ORPHA:716
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria ORPHA:2820
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis OMIM:619428
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Johanson-Blizzard Syndrome
Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the pancreas, Abnormal cardiac sep... ORPHA:2315
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Decreased circulating ceruloplasmin concentration, E... OMIM:616828
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis, Hypoalbuminemia OMIM:620357
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... ORPHA:730
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... ORPHA:54370
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Alport Syndrome
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... ORPHA:63
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoa... OMIM:619013
Lymphangiectasia, Intestinal
Lymphopenia, Neonatal hypoproteinemia OMIM:152800
Diarrhea 7, Protein-Losing Enteropathy Type
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia OMIM:615863
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... OMIM:614817
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Cyanosis, Transient Neonatal
Hepatomegaly, Reticulocytosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... ORPHA:93101
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology ORPHA:839
Wolcott-Rallison Syndrome
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hyponatremia, Renal insuffici... ORPHA:1667
Galactosemia I
Hepatomegaly, Albuminuria, Aminoaciduria, Galactosuria, Increased level of galactitol in urine OMIM:230400
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidney disease, Focal ... ORPHA:567546
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Perim... OMIM:608104
Glucoglycinuria
Hyperglycinuria, Glycosuria OMIM:138070
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... ORPHA:247598
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... ORPHA:1652
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... OMIM:616307
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... OMIM:231200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Elevated circulating alpha-feto... OMIM:251880
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoproteinemia, Ventricular septal defect, Elevated... ORPHA:26793
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Circulating nucleated red blood cells, Anisocytosis, Erythroi... OMIM:613673
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia ORPHA:2494
Alg1-Cdg
Renal insufficiency, Abnormal heart morphology, Cardiomyopathy, Nephrotic syndrome, Hypoalbuminem... ORPHA:79327
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Preeclampsia/Eclampsia 1
Proteinuria OMIM:189800
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Congenital Enterovirus Infection
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Myocarditis, Leukocytosis, T... ORPHA:292
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Analbuminemia
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... OMIM:616000
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... ORPHA:84090
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Glo... OMIM:607426
Trichohepatoenteric Syndrome 1
Hepatomegaly, Ventricular septal defect, Hypospadias, Increased mean platelet volume, Splenomegal... OMIM:222470
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Thrombocytopenia, Hepatitis, ... ORPHA:848
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Hypoalbuminemia, Proteinuria OMIM:614652
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia,... OMIM:235255
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Increased circulating ferritin concent... OMIM:613313
C1Q Deficiency 1
Membranoproliferative glomerulonephritis OMIM:613652
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced
Myoglobinuria, Renal insufficiency OMIM:255110
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatos... ORPHA:367
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thromb... ORPHA:540
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Aapoaiv Amyloidosis
Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Chronic kidn... ORPHA:439232
Atypical Hemolytic Uremic Syndrome
Hematuria, Acute kidney injury, Proteinuria ORPHA:2134
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Hepatosplenom... ORPHA:1655
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Enlarged kidney ORPHA:90301
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Splenom... OMIM:616860
Syndromic Diarrhea
Hepatomegaly, Atrial septal defect, Lymphopenia, Bicuspid aortic valve, Ventricular septal defect... ORPHA:84064
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria OMIM:266120
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Th... ORPHA:158048
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:276621
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Cholesteryl Ester Storage Disease
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Cirrhosis, Hypercholesterolemia, Hepa... ORPHA:75234
Denys-Drash Syndrome
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... OMIM:613070
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia ORPHA:86816
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Peric... ORPHA:167
Myoglobinuria, Autosomal Dominant
Myoglobinuria, Acute kidney injury OMIM:160010
Chylomicron Retention Disease
Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocholesterolemia, Hypot... OMIM:246700
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Decreased glomeru... OMIM:232200
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Pericarditis, Hemolytic anemia, ... OMIM:619487
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hyperuricemia, H... OMIM:306000
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Renal cyst, Proximal tubulopathy, Hepatic fibrosis, Hypoalbuminemia, Cirrhosis, Ste... OMIM:602579
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Increased circulating NT-proBNP concentration, Howell-Jolly bo... ORPHA:85443
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Enlarged kidney, Macroscopic hematuria ORPHA:251004
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Bone-marrow foam cells, Leukopeni... OMIM:278000
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Mpi-Cdg
Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis, Decreased liver function ORPHA:79319
Dent Disease 2
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... OMIM:300555
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Nephrotic syndrome, Nephropathy OMIM:105200
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Ascites, A... ORPHA:858
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Jaundice, Thrombocytopenia, Increased circulati... OMIM:603552
Hypouricemia, Renal, 1
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... OMIM:220150
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Thrombocytopenia, Anemia, Leukopenia, Nephrotic syndrome... OMIM:617303
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatosplenomegaly, Hypocalcemia, Hypercholeste... OMIM:612526
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... OMIM:263200
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis OMIM:314000
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Dec... OMIM:232220
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Leukocytosis, Hypo... ORPHA:67
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Hypocalcemia, Elevat... OMIM:619991
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Acute kidn... OMIM:618886
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... ORPHA:976
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Elevated urinary norepinephrine level, Elevated urinary dopamine level, Elevated uri... ORPHA:29072
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Lathosterolosis
Elevated hepatic transaminase, Bilobate gallbladder, Increased mean platelet volume, Acanthocytos... OMIM:607330
Acquired Partial Lipodystrophy
Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... OMIM:207750
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Abnormality of the urethra, Aplasia of the bladder, Abnormality of the urinary s... ORPHA:158684
Alg6-Cdg
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice ORPHA:79320
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Cholesterol-Ester Transfer Protein Deficiency
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... ORPHA:79506
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron de... OMIM:616278
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis OMIM:305800
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes, ... OMIM:269920
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Jaundice, Hypoproteinemia OMIM:608093
Wilson Disease
Acute hepatic failure, Decreased circulating ceruloplasmin concentration, Aminoaciduria, Hypoalbu... OMIM:277900
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis OMIM:616239
Sickle Cell Anemia
Pigment gallstones, Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the sple... ORPHA:232
Autoinflammatory-Pancytopenia Syndrome
Membranoproliferative glomerulonephritis, Proteinuria, Hepatosplenomegaly OMIM:619858
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Gaisböck Syndrome
Hypertriglyceridemia, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Nephroca... ORPHA:90041
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... OMIM:615234
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... OMIM:104200
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... OMIM:602522
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased urine harderoporphyrin level, Splenome... OMIM:618892
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentra... ORPHA:14
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Glomerulonephritis OMIM:247800
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Complement Component 4A Deficiency
Glomerulonephritis OMIM:614380
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Takenouchi-Kosaki Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal cardiac septum m... OMIM:616737
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Cholestasis, Progressive Familial Intrahepatic, 8
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Portal hypertension,... OMIM:619662
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Abnormal circu... ORPHA:88618
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Proteinuria, Pericardial effusion, Ste... OMIM:212065
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:225
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Lecithin:Cholesterol Acyltransferase Deficiency
Renal insufficiency, Proteinuria OMIM:245900
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Glo... OMIM:617729
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Left ventri... OMIM:611209
Attrv122I Amyloidosis
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Aortic valve st... ORPHA:85451
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Avian Influenza
Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Elevated circu... ORPHA:454836
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Hepatomegaly, Proteinuria OMIM:620010
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased LDL cholesterol concentr... OMIM:615703
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2668
Ataxia-Oculomotor Apraxia 4
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotransferase concentratio... OMIM:212140
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Nephropathy, Proteinuria ORPHA:247691
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... OMIM:276700
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Igg4-Related Kidney Disease
Renal insufficiency, Proteinuria, Urinary bladder inflammation, Renal interstitial immunoglobulin... ORPHA:449395
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Oligomeganephronia
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Glomerulomegaly, Bilateral renal hyp... ORPHA:2260
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasia, ... OMIM:614376
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Splenomegaly, Increased circulating fe... OMIM:235200
Peroxisome Biogenesis Disorder 1A (Zellweger)
Hepatomegaly, Hypospadias, Albuminuria, Aminoaciduria, Renal cortical microcysts, Hydronephrosis OMIM:214100
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis OMIM:618913
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:208920
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Cryoglobulinemia, Familial Mixed
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology OMIM:123550
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hypercholesterolemia, Hyperammonemia, Increased C-peptide level OMIM:620211
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... ORPHA:64753
Imerslund-Grasbeck Syndrome 1
Microscopic hematuria, Proteinuria OMIM:261100
Schimke Immuno-Osseous Dysplasia
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... ORPHA:1830
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis OMIM:610205
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... ORPHA:529799
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... ORPHA:228302
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Hyperprolinemia, Hyperalaninemia OMIM:619064
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Anisocytosis, Splenomegaly, Jaund... OMIM:615631
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Systemic Sclerosis
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d... ORPHA:90291
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Glomerular sclerosis, Abnormal renal physiology OMIM:223900
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Glycogen Storage Disease X
Myoglobinuria, Renal insufficiency OMIM:261670
Hereditary Renal Hypouricemia
Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithiasis indepe... ORPHA:94088
Mitochondrial Complex I Deficiency, Nuclear Type 36
Hyperalaninemia, Perimembranous ventricular septal defect, Hyperprolinemia, Cardiomegaly OMIM:619170
Anti-Glomerular Basement Membrane Disease
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:375
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Schimke Immunoosseous Dysplasia
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclero... OMIM:242900
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Cednik Syndrome
Nephrotic syndrome, Proteinuria ORPHA:66631
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Fanconi Renotubular Syndrome 3
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria OMIM:615605
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased circulating ferritin concentrati... OMIM:194380
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Spleni... OMIM:603903
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Thrombocytopenia, Abnormal heart morphology, Hep... ORPHA:505248
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Ureteral duplication, Renal insufficiency, Hepatomegaly, Long-chain dicarboxylic... OMIM:608836
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, N... OMIM:613404
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Familial Mediterranean Fever, Autosomal Dominant
Renal insufficiency, Proteinuria, Renal amyloidosis OMIM:134610
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Dicarboxylic aciduria, Elevated circulating creatine kinase concentration, Cardiome... OMIM:201475
Hyperlipidemia, Familial Combined, 3
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... OMIM:144250
Bacterial Toxic-Shock Syndrome
Renal insufficiency, Elevated circulating creatine kinase concentration, Glomerulonephritis, Myoc... ORPHA:36234
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, De... OMIM:232240
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, 3-Methylglutaconic aciduria, Bile duct proliferation, Macrovesicul... OMIM:618329
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Preeclampsia
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney ORPHA:275555
Glycogen Storage Disease Xi
Myoglobinuria, Renal insufficiency OMIM:612933
Cholestasis-Lymphedema Syndrome
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundic... OMIM:214900
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Nephrotic syndrome, H... ORPHA:29073
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... OMIM:613388
Thrombotic Thrombocytopenic Purpura
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria ORPHA:54057
Actinic Prurigo
Glomerulonephritis OMIM:174770
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria OMIM:616026
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Hepatosplenomegaly, Cirrhosis, Hyp... ORPHA:263501
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenome... ORPHA:37042
Primary Sclerosing Cholangitis
Acute hepatic failure, Abnormal eosinophil morphology, Hepatic fibrosis, Hypoalbuminemia, Neoplas... ORPHA:171
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Neuraminidase Deficiency
Hepatomegaly, Urinary excretion of sialylated oligosaccharides, Proteinuria, Bone-marrow foam cel... OMIM:256550
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, 4-hydroxyphenylacetic aciduria, Conjugated hyper... OMIM:617156
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Macroscopic hema... ORPHA:274
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... ORPHA:42
Hypercholesterolemia, Familial, 4
Hypercholesterolemia, Hypertriglyceridemia, Decreased LDL cholesterol concentration OMIM:603813
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:1192
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:264580
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... OMIM:134600
Renal Hypoplasia, Bilateral
Proteinuria, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta 2-microglobulin... ORPHA:97362
Cirrhotic Cardiomyopathy
Hepatomegaly, Increased circulating NT-proBNP concentration, Left atrial enlargement, Increased c... ORPHA:57777
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... OMIM:146255
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Conjugated hyperbilirubinemia, Jau... ORPHA:186
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease OMIM:166300
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... OMIM:300009
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterol... OMIM:605814
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Beckwith-Wiedemann Syndrome
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... OMIM:130650
Distal 16P11.2 Microdeletion Syndrome
Proteinuria, Abnormality of the kidney, Renal agenesis, Chronic kidney disease, Vesicoureteral re... ORPHA:261222
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Moderate albuminuria, Hydronephrosis OMIM:619269
Uruguay Faciocardiomusculoskeletal Syndrome
Elevated hepatic transaminase, Ventricular hypertrophy, Elevated circulating aspartate aminotrans... OMIM:300280
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly, Increased level of galactitol in plasma, Increased level of gal... ORPHA:79237
Alg12-Cdg
Elevated hepatic transaminase, Hyponatremia, Hypospadias, Muscular ventricular septal defect, Biv... ORPHA:79324
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormal heart morphology... ORPHA:487796
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Stage 5 chronic kidney disease, Ureteral atresia... OMIM:208540
Secondary Intestinal Lymphangiectasia
Decreased prealbumin level, Reduced circulating transferrin concentration, Chylous ascites, Hypoa... ORPHA:90363
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Attrv30M Amyloidosis
Cardiomyopathy, Nephropathy, Abnormal renal physiology, Cardiomegaly ORPHA:85447
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Abnormal circulating selenium concentration, Decreased serum iron, Dilated cardiomyopathy, Decrea... ORPHA:89842
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Pericardial effusion, Hypoalbuminemia, Hypocalcemia... OMIM:618183
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Mitral valve prolapse, Per... OMIM:612561
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy,... OMIM:614702
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency
Myoglobinuria, Renal insufficiency ORPHA:2364
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Red-brown urine, Tubulointersti... ORPHA:228308
Familial Atrial Myxoma
Cardiomegaly, Pulmonic valve myxoma, Jaundice, Cardiac myxoma, Cholestasis, Bacterial endocarditi... ORPHA:615
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Tubulointerstitial nephritis, Renal fibrosis... ORPHA:470
Hypothyroidism, Congenital, Nongoitrous, 8
Hypercholesterolemia OMIM:301033
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Renal t... OMIM:614748
Distal Myopathy, Tateyama Type
Hypercholesterolemia, Abnormal circulating creatine kinase concentration ORPHA:488650
Lcat Deficiency
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... ORPHA:650
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Lactescent serum, Increased circulati... OMIM:238600
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria OMIM:215250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... OMIM:612925
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Myoglobinuria, Acute kidney injury OMIM:268200
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612924
Mu-Heavy Chain Disease
Splenomegaly, Nephropathy, Bence Jones Proteinuria, Hepatomegaly ORPHA:100024
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatomegaly, Proteinuria, Abnormality of the kidney ORPHA:369
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Proteinuria, Enlarged polycystic ovar... ORPHA:2298
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Glycogen Storage Disease V
Dark urine, Myoglobinuria OMIM:232600
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia OMIM:613091
Juvenile Polyposis Syndrome
Hypokalemia, Hypoalbuminemia, Anemia OMIM:174900
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Decreased liver function, Cirrhos... OMIM:613280
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Elevated circulating creatine ... ORPHA:79240
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hyperammonemia, Hyperalaninemia, Hypertrophic cardiomyopathy OMIM:619051
Combined Oxidative Phosphorylation Deficiency 8
Hypertrophic cardiomyopathy, Cardiomegaly OMIM:614096
Kaposiform Lymphangiomatosis
Splenomegaly, Multiple renal cysts, Enlarged kidney, Hepatosplenomegaly ORPHA:464329
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Abnormality of the upper urinary tract, Renal tubular dysfunction, Glycosuria, Moderat... ORPHA:99885
Renal Agenesis
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... ORPHA:411709
Cardiomyopathy, Familial Hypertrophic, 27
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... OMIM:618052
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Nephropathy, Proteinuria, Renal artery stenosis OMIM:209010
Free Sialic Acid Storage Disease
Splenomegaly, Nephrotic syndrome, Proteinuria, Hepatomegaly ORPHA:834
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Ectopic kidney, Pericardial effusion, Ve... OMIM:235510
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury OMIM:612926
Juvenile Polyposis Of Infancy
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia ORPHA:79076
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Renal Cysts And Diabetes Syndrome
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... OMIM:137920
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:617713
Leiomyomatosis, Diffuse, With Alport Syndrome
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:308940
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Unilateral renal agenesis OMIM:618188
Immunodeficiency 47
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Normocytic anemia, Decreased circu... OMIM:300972
Hypophosphatemic Rickets, X-Linked Recessive
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... OMIM:300554
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Enlarged kidney ORPHA:276280
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Cardiomegaly, Hepatosplenomegaly, Iron deficiency anemia ORPHA:99931
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypernatremia, Multiple muscular ventricular septal defects, Hypoalbuminemia, Pulmonic stenosis OMIM:615508
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
H Syndrome
Micropenis, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly ORPHA:168569
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Conjugated hyperbilirubinemia,... OMIM:607765
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Splenomegaly, Increased circ... ORPHA:465508
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Melas
Nephropathy, Proximal tubulopathy, Proteinuria, Focal segmental glomerulosclerosis ORPHA:550
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Endocrine-Cerebroosteodysplasia
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney OMIM:612651
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... OMIM:619534
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Cryoglobulinemic Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria ORPHA:91138
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Alport Syndrome 1, X-Linked
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:301050
Shwachman-Diamond Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Myocardial necrosis, Acute myeloid leukemia, Pancyto... OMIM:260400
Alagille Syndrome 1
Duplicated collecting system, Multiple small medullary renal cysts, Stage 5 chronic kidney diseas... OMIM:118450
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hypoalbuminemia OMIM:614441
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Reticulocytosis, Pericarditis, Lymphopenia, Renal insufficiency, E... ORPHA:99826
Congenital Generalized Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Cirrhosis, Hypercholesterolemia, Hypertrophic cardiomyopathy,... ORPHA:528
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Renal interstitial amyloid deposits, Nocturia, He... ORPHA:85450
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... OMIM:617718
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Dextrocardia, Elevated circulating alpha-fetoprotein concentra... OMIM:613095
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:614921
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia ORPHA:1307
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Nephrolithiasis, Stage 5 chronic kidney disease, Nephrocalcinosis, Enl... ORPHA:79259
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Leptospirosis
Hepatomegaly, Pericarditis, Cellular urinary casts, Jaundice, Hepatitis, Hyperproteinemia, Elevat... ORPHA:509
Dyschondrosteosis-Nephritis Syndrome
Hematuria, Nephropathy, Proteinuria ORPHA:1765
Refsum Disease, Classic
Cardiomyopathy, Elevated circulating phytanic acid concentration, Abnormal renal physiology, Card... OMIM:266500
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Myocardial fibrosis, Pericardial constriction, Ascites OMIM:253250
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Gitelman Syndrome
Proteinuria, Urinary incontinence, Decreased urinary potassium, Tubulointerstitial nephritis, Enu... ORPHA:358
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Pancytopenia, Portal hypertension, Cholestasis, Bile duct prolifer... OMIM:613658
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... ORPHA:368
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria ORPHA:2774
Renal Hypodysplasia/Aplasia 1
Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Hypercholesterolemia, Cholangitis, Intrahepatic cho... ORPHA:69663
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... ORPHA:75565
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypoalbuminemia, Ascites OMIM:610965
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microscopic hematuria, Splenomegaly, Mode... OMIM:619525
Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Exercise-induced myoglobinuria OMIM:300653
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease OMIM:219900
Becker Muscular Dystrophy
Abnormal urinary color, Myoglobinuria ORPHA:98895
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria OMIM:616901
Glycogen Storage Disease Ii
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... OMIM:232300
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Nephrocalcinosis, Right atrial enlargement, Cardiomegaly OMIM:614473
Timothy Syndrome
Ventricular septal defect, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent foramen ovale OMIM:601005
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys OMIM:613845
Meacham Syndrome
Enlarged kidney, Horseshoe kidney OMIM:608978
Smith-Lemli-Opitz Syndrome
Ureteropelvic junction obstruction, Hepatomegaly, Ventricular septal defect, Hypospadias, Unilate... OMIM:270400
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Splenomegaly, Stage 5 chronic kidney dis... ORPHA:731
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... OMIM:609049
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis,... ORPHA:157
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... OMIM:115197
Cystinosis
Renal insufficiency, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Nephropathy ORPHA:213
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... ORPHA:436271
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Nephrotic syndrome, Nephropathy ORPHA:330001
Heme Oxygenase 1 Deficiency
Hematuria, Hepatomegaly, Nephritis, Proteinuria OMIM:614034
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... ORPHA:79328
Simple Cryoglobulinemia
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... ORPHA:91139
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Myoglobinuria OMIM:602199
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Nephroblastoma, Bifid ureter, Enlarged kidney ORPHA:500095
Mandibuloacral Dysplasia Progeroid Syndrome
Left ventricular hypertrophy, Focal segmental glomerulosclerosis, Proteinuria, Hepatomegaly OMIM:619127
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Increased LDL cholesterol concentration, Acute hepa... ORPHA:209902
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... ORPHA:555874
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,... ORPHA:18
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly OMIM:618652
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Hepatic Lipase Deficiency
Hypercholesterolemia, Hypertriglyceridemia, Increased HDL cholesterol concentration OMIM:614025
Leprechaunism
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Enlarged kidney ORPHA:508
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormal heart morphology OMIM:182290
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Hypoalbuminemia, Elevated circulating creatine kinase concentration OMIM:619055
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Renal salt wasting, Microvesicular hepatic steatosis, Vacuolated lymphocy... ORPHA:275761
Donnai-Barrow Syndrome
Proteinuria ORPHA:2143
Hypocomplementemic Urticarial Vasculitis
Glomerulopathy, Renal insufficiency, Hepatomegaly, Proteinuria, Splenomegaly, Hematuria ORPHA:36412
Papa Syndrome
Proteinuria ORPHA:69126
Severe Oculo-Renal-Cerebellar Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:2715
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Exercise-induced myoglobinuria ORPHA:352479
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:308552
Fanconi-Bickel Syndrome
Hepatomegaly, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, Generalized aminoaciduri... OMIM:227810
Alpha-N-Acetylgalactosaminidase Deficiency
Oligosacchariduria, Cardiomegaly ORPHA:3137
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fan... OMIM:220110
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... ORPHA:3092
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Abnormal concentration of acylcarnitine in the urine, Hyperammonemia... ORPHA:391428
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Ddost-Cdg
Nephrotic range proteinuria ORPHA:300536
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... ORPHA:47159
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Renal insufficiency ORPHA:713
Beckwith-Wiedemann Syndrome
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... ORPHA:116
Paroxysmal Cold Hemoglobinuria
Abnormal urinary color, Hemoglobinuria ORPHA:90035
Glycogen Storage Disease Due To Aldolase A Deficiency
Myoglobinuria, Acute kidney injury ORPHA:57
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Pheochromocytoma--Islet Cell Tumor Syndrome
Proteinuria, Elevated urinary norepinephrine level OMIM:171420
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Anemia ORPHA:79396
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... ORPHA:412
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Myoglobinuria ORPHA:119
Juvenile Polyposis Syndrome
Neoplasm of the pancreas, Extrahepatic portal hypertension, Hepatic arteriovenous malformation, H... ORPHA:2929
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia, Dilated cardiomyopathy, Bicuspid aortic valve, Renovascular hypertension ORPHA:401923
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Asplenia, Biliary atresia, Dextrotransposition of the great arteries, Atrial septal... OMIM:306955
Majeed Syndrome
Glomerulopathy, Hepatomegaly, Proteinuria, Splenomegaly, Microscopic hematuria ORPHA:77297
Glycogen Storage Disease Ixd
Exercise-induced myoglobinuria OMIM:300559
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Tubulointerstitial nephritis, Re... ORPHA:33001
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Renal corticomedu... OMIM:243910
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Decreased ... ORPHA:488627
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Hematuria, Nephrotic syndrome OMIM:161200
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Hyperlipoproteinemia, Type Id
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Splenomegaly, Pancre... OMIM:615947
Ogden Syndrome
Global glomerulosclerosis, Polycystic kidney dysplasia, Enlarged kidney, Cardiomegaly OMIM:300855
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria OMIM:231530
Lymphatic Filariasis
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Hematuria, Nephrotic syndrome, Urethr... ORPHA:2035
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria OMIM:614231
Acquired Aneurysmal Subarachnoid Hemorrhage
Left ventricular hypertrophy, Hypercholesterolemia, Leukocytosis ORPHA:90065
Neurodegeneration And Seizures Due To Copper Transport Defect
Glandular hypospadias, Abnormal circulating ceruloplasmin concentration, Abnormal circulating cop... OMIM:620306
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Paroxysmal Nocturnal Hemoglobinuria 2
Paroxysmal nocturnal hemoglobinuria OMIM:615399
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria ORPHA:86818
Fabry Disease
Renal insufficiency, Proteinuria, Urinary mulberry cells, Left ventricular hypertrophy, Lipiduria OMIM:301500
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Proteinuria, Multiple bladder diverticula ORPHA:2728
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Renal Fanconi syndrome, Proteinuria, Glycosuria ORPHA:263455
Danon Disease
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... OMIM:300257
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria ORPHA:284426
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hepatic failure, ... OMIM:608013
Thrombotic Thrombocytopenic Purpura, Hereditary
Hemolytic-uremic syndrome, Microscopic hematuria, Proteinuria, Abnormal renal physiology OMIM:274150
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Abnormal penis morphology, Dysuria, Renal tubular epithelial necrosis, Hematuria, Moderate albumi... ORPHA:95455
Malignant Hyperthermia, Susceptibility To, 1
Myoglobinuria OMIM:145600
Juvenile Nephropathic Cystinosis
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... ORPHA:411634
Genetic Recurrent Myoglobinuria
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... ORPHA:99845
Pheochromocytoma
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level OMIM:171300
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... ORPHA:93552
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Enlarged kidney, Enuresis nocturna OMIM:615873
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Hypertrophic cardiomyopathy, Micropenis, As... OMIM:616897
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paroxysmal nocturnal hemoglobinuria OMIM:612300
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Pollakisuria, Elevated circulating creatine kinase concentration, Right ventricular hypertrophy, ... ORPHA:268
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria ORPHA:90060
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Coronary Arterial Fistula
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... ORPHA:2041
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Methylmalonic acid... OMIM:277400
Galloway-Mowat Syndrome
Nephropathy, Nephrotic syndrome, Proteinuria ORPHA:2065
Ohdo Syndrome
Proteinuria OMIM:249620
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertroph... ORPHA:79330
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Sandhoff Disease
Hepatosplenomegaly, Hepatomegaly, Urinary incontinence, Cardiomegaly OMIM:268800
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Hypospadias, Pure red cell aplasia, Erythroid ... ORPHA:124
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Persistence of hemoglobin F, Ventricular septal defect OMIM:619769
Laron Syndrome
Hypercholesterolemia, Hypoplasia of penis ORPHA:633
Hypercholesterolemia, Familial, 3
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia OMIM:603776
Abdominal Obesity-Metabolic Syndrome 3
Increased LDL cholesterol concentration, Hypercholesterolemia, Coronary artery stenosis, Hypertri... OMIM:615812
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin, Prolonged neonatal jaundice ORPHA:423479
Fucosidosis
Hepatomegaly, Mucopolysacchariduria, Abnormality of the gallbladder, Cardiomegaly ORPHA:349
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatomegaly, Myoglobinuria, Red-brown urine ORPHA:228305
Renal Nutcracker Syndrome
Hematuria, Microscopic hematuria, Proteinuria, Renal artery stenosis ORPHA:71273
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Proteinuria OMIM:192315
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Myoglobinuria OMIM:620138
Cystinosis, Nephropathic
Hepatomegaly, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Splenomegaly, Stage ... OMIM:219800
Methemoglobinemia And Ambiguous Genitalia
Scrotal hypospadias, Micropenis, Methemoglobinemia, Hypospadias OMIM:250790
Legionnaires Disease
Hematuria, Splenomegaly, Renal insufficiency, Proteinuria ORPHA:549
Glycogen Storage Disease Vii
Hematuria, Exercise-induced myoglobinuria OMIM:232800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... ORPHA:324410
Isolated Right Ventricular Hypoplasia
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... ORPHA:439
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Retroperitoneal fibrosis, Splenomegaly, He... OMIM:602782
Temple Syndrome
Hypercholesterolemia, Hypertriglyceridemia OMIM:616222
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Dilated cardiomyopathy, Renal artery stenosis, Cardiomegaly OMIM:208000
Systemic Lupus Erythematosus
Hematuria, Proteinuria, Lupus nephritis, Pyuria ORPHA:536
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Tubulointerstitial nephritis ORPHA:183
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Hypospadias, Microcytic anemia ORPHA:98791
Cardiac-Urogenital Syndrome
Enlarged kidney, Micropenis, Penoscrotal hypospadias, Patent urachus OMIM:618280
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
3-Methylglutaconic aciduria, Myoglobinuria, Ketonuria, Hepatomegaly OMIM:251900
Mitochondrial Trifunctional Protein Deficiency 2
Myoglobinuria, Recurrent myoglobinuria OMIM:620300
Malakoplakia
Proteinuria, Dysuria, Urinary bladder inflammation, Urinary urgency, Hematuria, Urinary hesitancy ORPHA:556
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness
Renal insufficiency, Mild proteinuria OMIM:619147
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis OMIM:208500
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur... ORPHA:411629
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubulointerstiti... ORPHA:340
Martin-Probst Syndrome
Renal insufficiency, Micropenis, Chordee, Proteinuria OMIM:300519
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Mild proteinuria OMIM:619685
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... ORPHA:1457
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Increased hepatic glycogen content, 3-Methylglutaconic aciduria, Cardiomegaly OMIM:619259
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... OMIM:233450
Lead Poisoning
Decreased HDL cholesterol concentration, Chronic kidney disease, Imbalanced hemoglobin synthesis,... ORPHA:330015
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Gaucher Disease Type 1
Hematuria, Hepatomegaly, Proteinuria, Splenomegaly ORPHA:77259
Donnai-Barrow Syndrome
Non-acidotic proximal tubulopathy, Proteinuria OMIM:222448
Complete Atrioventricular Septal Defect
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... ORPHA:1329
Wagro Syndrome
Nephroblastoma, Proteinuria OMIM:612469
Bardet-Biedl Syndrome 20
Elevated hepatic transaminase, Proteinuria, Atrial septal defect, Hypercholesterolemia, Micropeni... OMIM:619471
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Familial Mediterranean Fever
Proteinuria, Splenomegaly, Nephrocalcinosis, Nephrotic syndrome, Nephropathy ORPHA:342
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy ORPHA:1018
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Stage 5 chronic kidney disease, Thic... ORPHA:2614
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Abnormal renal morphology, Vesicoureteral reflux, Renal... OMIM:122470
Osteootohepatoenteric Syndrome
Proteinuria, Grade II vesicoureteral reflux OMIM:619377
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Nephroblastoma,... OMIM:312870
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Pancreatic steatosis, Thrombocytopenia, Ne... OMIM:617052
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Smith-Magenis Syndrome
Hypercholesterolemia, Hypertriglyceridemia, Abnormality of the ureter ORPHA:819
Cocaine Intoxication
Proteinuria, Glomerulonephritis, Hematuria, Tubulointerstitial nephritis, Acute kidney injury ORPHA:90068
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... ORPHA:363705
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Exercise-induced myoglobinuria OMIM:607155
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Glycopeptiduria, Oligosaccharid... OMIM:230000
Hellp Syndrome
Hemoglobinuria, Acute kidney injury, Proteinuria ORPHA:244242
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Abnormal intrahepatic ... ORPHA:363618
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Acute pancreatitis, Decreased HDL cholesterol concentration, Hypertriglyceridemia, ... OMIM:151660
Pure Mitochondrial Myopathy
Recurrent myoglobinuria ORPHA:254854
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Ventricular septal defect, Hypospadias, Reduced alpha/beta synthesis ratio, Hypochromic microcyti... OMIM:301040
Spondyloenchondrodysplasia
Hematuria, Chronic kidney disease, Proteinuria ORPHA:1855
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Cardiomegaly OMIM:105210
Immunoglobulin A Vasculitis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:761
Myopathy With Lactic Acidosis, Hereditary
Myoglobinuria OMIM:255125
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Postinfectious Vasculitis
Hematuria, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis ORPHA:48435
Mitochondrial Trifunctional Protein Deficiency 1
Myoglobinuria OMIM:609015
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Splenomegaly, Hemoglobinuria OMIM:300908
Agel Amyloidosis
Proteinuria, Stage 5 chronic kidney disease ORPHA:85448
Ataxia With Vitamin E Deficiency
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia, Xanthelasma OMIM:277460
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Imerslund-Gräsbeck Syndrome
Proteinuria ORPHA:35858
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Myoglobinuria ORPHA:206549
Cockayne Syndrome Type 1
Hepatomegaly, Renal insufficiency, Proteinuria ORPHA:90321
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... OMIM:601214
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necrosis, Beta 2-microglob... ORPHA:91500
Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hydronephrosis ORPHA:900
Acquired Generalized Lipodystrophy
Hepatomegaly, Proteinuria ORPHA:79086
Thymoma
Aplastic anemia, Glomerulonephritis, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Leuk... ORPHA:99867
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertrigly... OMIM:256040
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Myoglobinuria, Dicarboxylic aciduria ORPHA:71212
Fabry Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Left ventricular... ORPHA:324
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Splenomegaly OMIM:102700
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hepatomegaly, Hyperlipidemia, Hypercholesterolemia OMIM:248370
Oculocerebrorenal Syndrome Of Lowe
Glomerulopathy, Renal insufficiency, Proteinuria, Proximal renal tubular acidosis, Nephrolithiasi... ORPHA:534
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Elevated circulat... ORPHA:365
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Cardiomegaly, Right atrial enlargement, Abnormality of the hepatic vasculature, Atr... ORPHA:1677
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Myoglobinuria, Ketonuria OMIM:616878
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... OMIM:620066
Malignant Hyperthermia Of Anesthesia
Myoglobinuria, Acute kidney injury ORPHA:423
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Cardiomegaly OMIM:618143
Lethal Acantholytic Erosive Disorder
Cardiomyopathy, Cardiomegaly ORPHA:158687
Gaucher Disease Type 3
Hematuria, Hepatomegaly, Proteinuria, Splenomegaly ORPHA:77261
Pearson Syndrome
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Lacticaciduria, Renal cyst, Glycosuria ORPHA:699
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypercholesterolemia, Hypertriglyceridemia, Hypospadias OMIM:610644
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Renal insufficiency, Proteinuria, Chronic kidney disease, Hemoglobinuria, Renal ... ORPHA:447
Neuroleptic Malignant Syndrome
Myoglobinuria, Acute kidney injury, Proteinuria, Urinary incontinence ORPHA:94093
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Prol... ORPHA:90674
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hydronephrosis ORPHA:2750
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Hydronephrosis, Hypoplasia of penis, Abnormal hemoglobin, Anemia ORPHA:847
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Left ventricula... OMIM:245600
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Mucopolysaccharidur... ORPHA:581
Pmm2-Cdg
Elevated hepatic transaminase, Pericarditis, Proteinuria, Pericardial effusion, Reduced thyroxin-... ORPHA:79318
Truncus Arteriosus
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... ORPHA:3384
Glycogen Storage Disease Xii
Splenomegaly, Hemoglobinuria, Hepatomegaly OMIM:611881
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Cardiomegaly, Neonatal alloimmune thrombocytopenia, Hepatosplenome... ORPHA:51
Neuhauser Syndrome
Hypercholesterolemia OMIM:249310
Relapsing Polychondritis
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria ORPHA:728
Orofaciodigital Syndrome I
Proteinuria, Polycystic kidney dysplasia OMIM:311200
Megalocornea-Intellectual Disability Syndrome
Hypercholesterolemia ORPHA:2479
Cockayne Syndrome
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Proteinuria, Urinary incontinence, Unilate... ORPHA:191
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Renal cyst, Cardiomegaly ORPHA:137675
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly ORPHA:2463
Absence Of The Pulmonary Artery
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... ORPHA:980
Congenital Tracheomalacia
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... ORPHA:95430
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hemoglobinuria, Anuria, Acute kidney injury ORPHA:90038
Holoprosencephaly
Hypoplasia of penis, Abnormality of the urinary system, Proteinuria ORPHA:2162
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis OMIM:133540
Cockayne Syndrome A
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis OMIM:216400
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Cardiomegaly ORPHA:96191
Bohring-Opitz Syndrome
Cardiomegaly, Abnormal cardiac septum morphology, Urinary retention, Cholelithiasis, Annular panc... ORPHA:97297
Aymé-Gripp Syndrome
Proteinuria ORPHA:1272
Lowe Oculocerebrorenal Syndrome
Renal insufficiency, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Stage 5 ... OMIM:309000
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... ORPHA:99125
Kawasaki Disease
Proteinuria, Sterile pyuria ORPHA:2331
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... OMIM:300967
Infection-Related Hemolytic Uremic Syndrome
Anuria, Oliguria, Acute kidney injury, Nephrotic range proteinuria, Decreased urine output ORPHA:544482
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, C... ORPHA:904
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Gaucher Disease
Hematuria, Hepatomegaly, Proteinuria, Splenomegaly ORPHA:355
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hyperphosphaturia, Cardiomegaly, Pericardial effusion, Hepatic calcifica... ORPHA:51608
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Proteinuria OMIM:616682
Homozygous Familial Hypercholesterolemia
Hyperlipidemia, Increased LDL cholesterol concentration, Renal artery stenosis, Myocardial steato... ORPHA:391665
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, ... ORPHA:3472
Crimean-Congo Hemorrhagic Fever
Hematuria, Hepatomegaly, Proteinuria, Splenomegaly ORPHA:99827
Steinert Myotonic Dystrophy
Elevated hepatic transaminase, Cholelithiasis, Dilated cardiomyopathy, Hypercholesterolemia ORPHA:273
Lipodystrophy, Familial Partial, Type 7
Hypercholesterolemia, Hypertriglyceridemia, Recurrent pancreatitis, Polyuria OMIM:606721
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... OMIM:182250

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 Rhpn1

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 Rhpn1.

No publications found that use IMPC mice or data for Rhpn1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
Rhpn1tm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Rhpn1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Rhpn1tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Rhpn1tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Rhpn1tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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