Gene Summary

Name:
phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha
Synonyms:
PI3KC2

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
embryonic growth retardation Pik3c2atm1b(EUCOMM)Hmgu HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Pik3c2atm1b(EUCOMM)Hmgu HOM   E12.5 0.00
enlarged lymph nodes Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 0.00
hypoactivity Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 9.20×10-05
preweaning lethality, complete penetrance Pik3c2atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
abnormal embryo size Pik3c2atm1b(EUCOMM)Hmgu HOM E9.5 0.00
decreased lymphocyte cell number Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 1.83×10-06
increased circulating glucose level Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 7.07×10-05
increased neutrophil cell number Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 3.28×10-14

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lacZ Expression

No Adult expression data was found for this gene.

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 22.22% (2 of 9)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 22.22% (2 of 9)
Embryo N/A heterozygote 22.22% (2 of 9)
Eye N/A heterozygote 22.22% (2 of 9)
Footplate N/A heterozygote 0.0% (0 of 9)
Forebrain N/A heterozygote 22.22% (2 of 9)
Forelimb N/A heterozygote 22.22% (2 of 9)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 0.0% (0 of 9)
Head N/A heterozygote 0.0% (0 of 9)
Heart N/A heterozygote 22.22% (2 of 9)
Hindbrain N/A heterozygote 22.22% (2 of 9)
Hindlimb N/A heterozygote 22.22% (2 of 9)
Liver N/A heterozygote 22.22% (2 of 9)
Lung N/A heterozygote 22.22% (2 of 9)
Mandibular process N/A heterozygote 22.22% (2 of 9)
Maxillary process N/A heterozygote 22.22% (2 of 9)
Midbrain N/A heterozygote 22.22% (2 of 9)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 22.22% (2 of 9)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 0.0% (0 of 9)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 22.22% (2 of 9)
Tail N/A heterozygote 0.0% (0 of 9)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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 Whole Body Lateral Orientation

14 Images

Gross Morphology Embryo E9.5

Images

5 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Embryo LacZ

LacZ images wholemount

67 Images

Eye Morphology

Images Slit Lamp

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

Combined SHIRPA and Dysmorphology

Images

4 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

Human diseases caused by Pik3c2a mutations

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

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

The table below shows human diseases associated to Pik3c2a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Pik3c2a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion OMIM:209050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Immunodeficiency 8
Lymphopenia, Hyperactivity OMIM:615401
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Glanzmann Thrombasthenia 2
Prolonged bleeding time, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced ... OMIM:619267
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Lymphadenopathy, Iron defi... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Decreased specific pneumococcal antibody level, Autoimmunity, I... OMIM:617006
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Immunodeficiency 64
Increased proportion autoreactive unresponsive CD21-/low B cells, Bronchiectasis, Increased circu... OMIM:618534
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Eosinophilia, Iron deficiency anemia, Increased circulating IgM ... OMIM:601859
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Elevated circulating creatinine concentration, Decr... ORPHA:329918
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Elevated circulating creatinine concentration, Decreased serum co... ORPHA:567544
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Abnormal macrophage morphology, Acute myelomonocytic leukemia, Decrea... ORPHA:2585
Immunodeficiency 40
Lymphopenia OMIM:616433
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Neutropenia, Nephropathy, Hyperuricemia, Gout, Renal cyst, Ch... OMIM:617056
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Anemia, Hype... OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Elevated circulating creatinine concentration, Glo... OMIM:174000
Immunodeficiency 69
Increased circulating ferritin concentration, Skin rash, Thrombocytosis, Leukocytosis, Pancytopen... OMIM:618963
Nephrotic Syndrome, Type 14
Focal segmental glomerulosclerosis, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia, Stage 5 c... OMIM:617575
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Elevated circulating creatinine concentration, Reversible renal failure, Uveitis, Cir... OMIM:607665
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction... OMIM:273800
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmunity, Increase... OMIM:614470
Preeclampsia
Abnormality of the hepatic vasculature, Acute kidney injury, Autoimmunity, Elevated circulating c... ORPHA:275555
Gray Platelet Syndrome
Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-induced platelet ag... OMIM:139090
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Prolonged bleeding time, Giant platelets OMIM:608404
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Reduced natur... OMIM:619374
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Bernard-Soulier Syndrome
Thrombocytopenia, Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Gian... OMIM:231200
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Hypercholesterolemia, Acute kidney injury, Focal segmental glomerulosclerosis, Growt... ORPHA:567548
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyperechogenic kidneys, Polyuria, Hyperuricemia, Renal salt wasting, Hyponatremia, Thrombocytopen... OMIM:613845
Lipodystrophy, Partial, Acquired, Susceptibility To
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Abnormal circulating lipid conce... OMIM:608709
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Abnormal proportion of CD4-positive T cells, Abnormal serum interleukin level, Dec... ORPHA:3261
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Renal hypoplasia, Hyperuricemia,... OMIM:613092
Myh9-Related Disease
Congenital thrombocytopenia, Increased mean platelet volume, Nephropathy, Giant platelets, Renal ... ORPHA:182050
Fechtner syndrome
Hematuria, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Stage 5 chronic kidney ... OMIM:153640
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephropathy, Glomerulopathy, Thrombocytopenia, Nephrotic synd... OMIM:254900
Erythrocytosis, Familial, 4
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:611783
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia, Prolonged bleeding time OMIM:277480
Glycogen Storage Disease Ib
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellular carcinoma, Neutr... OMIM:232220
Nephrotic Syndrome, Type 1
Hypoproteinemia, Growth delay, Glomerular sclerosis, Renal tubular atrophy, Small for gestational... OMIM:256300
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,... ORPHA:1830
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Drug-Induced Lupus Erythematosus
Serositis, Hematuria, Increased blood urea nitrogen, Pericarditis, Decreased serum complement C4,... ORPHA:231111
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Erythrocytosis, Familial, 5
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617907
Erythrocytosis, Familial, 6
Polycythemia, Increased hematocrit, Increased hemoglobin OMIM:617980
Nephrotic Syndrome, Type 11
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:616730
Sitosterolemia 1
Impaired platelet aggregation, Episodic hemolytic anemia, Chronic hemolytic anemia, Stomatocytosi... OMIM:210250
Pgm3-Cdg
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Neutropen... ORPHA:443811
Primary Hyperoxaluria Type 1
Dysuria, Hematuria, Recurrent urinary tract infections, Hyperoxaluria, Enuresis, Decreased glomer... ORPHA:93598
Erythrocytosis, Familial, 7
Polycythemia, Increased hematocrit OMIM:617981
Sting-Associated Vasculopathy, Infantile-Onset
Skin rash, Pustular rash, Thrombocytosis, Pustule, Increased circulating IgA level, Lymphopenia, ... OMIM:615934
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Decreased serum complement fac... ORPHA:2134
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Increased circulating IgE level, Decreased proportion of CD8-po... ORPHA:169154
Nephrotic Syndrome, Type 8
Thin glomerular basement membrane, Chronic kidney disease, Hypoalbuminemia, Nephrotic syndrome, D... OMIM:615244
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:610725
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Hermansky-Pudlak Syndrome 6
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules OMIM:614075
Galloway-Mowat Syndrome 7
Hypercholesterolemia, IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal... OMIM:618348
Acquired Partial Lipodystrophy
Lymphocytosis, Autoimmunity, Hepatic steatosis, Lipoatrophy, Glomerulopathy, Microscopic hematuri... ORPHA:79087
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Diffuse Alveolar Hemorrhage
Hematuria, Antineutrophil antibody positivity, Leukocytosis, Autoimmunity, Elevated circulating c... ORPHA:90060
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Cellulitis, Microcytic anemia, Colitis, Pancytopenia, Cystic acne, Arthritis, Ele... OMIM:604416
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Increased circulating IgM level, Enlarged kidney, Focal segmental glomerulos... OMIM:617303
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Hepatic steatosis, Proximal tubulopathy, Abnormal subcutaneous fat tissue distrib... OMIM:212065
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Growth delay, Uveitis,... OMIM:617388
Erythrocytosis, Familial, 1
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin, Splenomegaly OMIM:133100
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia, Nephrocalcinosis, Low-molecular-weight proteinuria, Hyposthenuria, Focal segmen... OMIM:308990
Distal Renal Tubular Acidosis
Hypocitraturia, Hemolytic anemia, Low-molecular-weight proteinuria, Hyperphosphaturia, Renal pota... ORPHA:18
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypocalcemia, Decreased prealbumin level, Interstitial pneumonitis, Anti-liver cytosolic antigen ... ORPHA:37042
Immunodeficiency 14A, Autosomal Dominant
Decreased proportion of class-switched memory B cells, T lymphocytopenia, Increased circulating I... OMIM:615513
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Abnormality of mesentery morphology, Hematuria, Acute kidney in... ORPHA:449395
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Bronchiectasis, Autoimmune hemolyti... OMIM:619220
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Prolonged bleeding time, Giant platelets, Macrothrombocytopenia OMIM:600208
Multiple Myeloma
Acute kidney injury, Increased circulating IgA level, Elevated circulating creatinine concentrati... ORPHA:29073
Focal Segmental Glomerulosclerosis 6
Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Chronic kidney disease, Hyp... OMIM:614131
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell m... OMIM:242900
Senior-Loken Syndrome 1
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:266900
Senior-Loken Syndrome 4
Nephronophthisis, Polyuria, Anemia, Stage 5 chronic kidney disease OMIM:606996
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Autoimmunity, Lymphopenia, Decreased c... OMIM:617780
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Membranoprolifera... OMIM:613913
Complement Component 3 Deficiency, Autosomal Recessive
Systemic lupus erythematosus, Membranoproliferative glomerulonephritis, Nephrotic syndrome, Renal... OMIM:613779
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Pauci-Immune Glomerulonephritis
Arteritis, Acute kidney injury, Scleritis, Nephrotic range proteinuria, Elevated circulating crea... ORPHA:93126
Autoimmune Hepatitis
Increased total bilirubin, Anti-liver cytosolic antigen type 1 antibody positivity, Thyroiditis, ... ORPHA:2137
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:600995
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Tubulointerstitial fibrosis, Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium,... OMIM:602522
Histiocytosis, Familial Lipochrome
Histiocytosis, Increased circulating antibody level, Increased alpha-globulin OMIM:235900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Reticulocy... OMIM:235400
Insulin-Resistance Syndrome Type B
Skin rash, Abnormal circulating lipid concentration, Weight loss, Pneumonia, Increased circulatin... ORPHA:2298
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Autoimmunity, Increased circulating antibody level, Recurrent otitis... OMIM:618495
Transcobalamin Deficiency
Acute kidney injury, Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytop... ORPHA:859
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Syndromic Diarrhea
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Renal hypoplasia, Lymphopenia, Panhyp... ORPHA:84064
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Galloway-Mowat Syndrome 8
Enamel hypoplasia, Hematuria, Focal segmental glomerulosclerosis, Renal tubular atrophy, Hypoalbu... OMIM:618349
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation, Proteinuria OMIM:189800
Mu-Heavy Chain Disease
Increased circulating antibody level, Nephropathy, Weight loss, Hepatomegaly, Abnormal B cell cou... ORPHA:100024
Oligomeganephronia
Decreased numbers of nephrons, Elevated circulating creatinine concentration, Unilateral renal ag... ORPHA:2260
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Weight loss, Eleva... ORPHA:49041
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Decreased glomerular filtration rate, Severe short stature, Elevated circulating creatinine conce... OMIM:242530
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic sy... OMIM:615573
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Lipodystrophy, Failure to... OMIM:617099
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Nephrotic Syndrome, Type 17
Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Microscopic hematuria, ... OMIM:618176
Hereditary Renal Hypouricemia
Abnormal renal physiology, Abnormal renal tubule morphology, Mild proteinuria, Hematuria, Acute k... ORPHA:94088
Brucellosis
Intrarenal abscess, Pericarditis, Pneumonia, Weight loss, Increased circulating IgG level, Small ... ORPHA:1304
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Coenzyme Q10 Deficiency, Primary, 1
Glomerular sclerosis, Elevated circulating creatine kinase concentration, Pancytopenia, Anemia, N... OMIM:607426
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Increased blood urea nitrogen, Enla... ORPHA:251004
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Increased blood urea nitrogen,... OMIM:612926
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Rhizomelia, Elevated circulating creatinine concentration, Glomerulonephritis, ... OMIM:614376
Hypercalcemia, Infantile, 2
Hypophosphatemia, Renal phosphate wasting, Polyuria, Hypercalciuria, Hypercalcemia, Failure to th... OMIM:616963
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Acute kidney injury, Leukocytosis, Hypernatremia, Hyponatremia, Hyp... ORPHA:94093
Sebastian syndrome
Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophi... OMIM:605249
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Hepatic cysts, Hyperbilirubinemia, Abno... ORPHA:400
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomeruloneph... OMIM:617609
Tubulointerstitial Nephritis And Uveitis Syndrome
Skin rash, Reduced hematocrit, Elevated circulating creatinine concentration, Weight loss, Increa... ORPHA:91500
Boutonneuse Fever
Skin rash, Increased circulating IgM level, Maculopapular exanthema, Thrombocytopenia, Increased ... ORPHA:83313
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Podocyte foot process effacement, Steroid-resistant nephrotic s... OMIM:619263
Trichohepatoenteric Syndrome 1
Cirrhosis, Thrombocytosis, Abnormality of iron homeostasis, Intrauterine growth retardation, Incr... OMIM:222470
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Growth delay, Neutropenia, Hypoplasia of the thym... OMIM:612541
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus, Decreased s... OMIM:613652
Galloway-Mowat Syndrome 4
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Short stature, Diffuse ... OMIM:617730
Glycogen Storage Disease Ia
Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, Hepatocellular carcinoma, Hyper... OMIM:232200
Primary Membranoproliferative Glomerulonephritis
Glomerular subendothelial electron-dense deposits, Acute kidney injury, Microscopic hematuria, Ch... ORPHA:54370
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Hepatomegaly, Anemia, Splenomegaly, Lym... ORPHA:37748
Autosomal Dominant Polycystic Kidney Disease
Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, Hepatic cysts, Elevated circulating crea... ORPHA:730
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Nephrotic s... OMIM:616002
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Eosinophilic liver infiltration, Hepatic cysts, Membranous nephropathy, Failur... OMIM:618999
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Nephr... OMIM:603965
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Systemic lupus erythematosus, Acute myeloid leukemia, Leukopenia, Refractory anemia,... OMIM:616871
Malaria
Acute kidney injury, Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protei... ORPHA:673
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Microscopic hematuria, Stage 5 chronic kidney dise... OMIM:161900
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Nephroblastoma, Nephrotic syndrome, Renal insufficiency, Diff... OMIM:256370
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Relapsing Fever
Increased total bilirubin, Hematuria, Acute kidney injury, Leukocytosis, Elevated circulating cre... ORPHA:91547
Focal Segmental Glomerulosclerosis 8
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:616032
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... OMIM:615816
Nephrotic Syndrome, Type 20
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:301028
Tempi Syndrome
Polycythemia, Increased hematocrit, Increased circulating IgG level ORPHA:284227
Nephrotic Syndrome, Type 19
Proteinuria, Chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomer... OMIM:618178
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Maturity-Onset Diabetes Of The Young, Type 10
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:613370
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Coenzyme Q10 Deficiency, Primary, 6
Nephrotic syndrome, Diffuse mesangial sclerosis, Proteinuria, Focal segmental glomerulosclerosis OMIM:614650
Bacterial Toxic-Shock Syndrome
Peritonitis, Hypocalcemia, Skin rash, Elevated circulating creatinine concentration, Recurrent ur... ORPHA:36234
Thrombotic Thrombocytopenic Purpura, Hereditary
Abnormal renal physiology, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reti... OMIM:274150
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:263400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Hyperparathyroidism, Neonatal Severe
Hypophosphatemia, Hyperphosphaturia, Polyuria, Aminoaciduria, Hepatomegaly, Hypercalciuria, Calci... OMIM:239200
Holoprosencephaly, Recurrent Infections, And Monocytosis
Monocytosis, Recurrent skin infections, Micropenis, Failure to thrive OMIM:610680
Nephrotic Syndrome, Type 12
Hematuria, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosclerosis, Stage 5 chro... OMIM:616892
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Steroid-resistant nephrotic syndro... OMIM:618594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Intrauterine growth ret... OMIM:301006
Pelger-Huet Anomaly
Mild short stature, Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutr... OMIM:169400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Elevated circulating C-reactive protein concentration, Anemia, Leukopeni... OMIM:615688
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypernatriuria, Polyuria, Hyponatremia, Increased urinary potassium, Renal salt wasting, Decrease... OMIM:613090
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytohemagglutin... OMIM:153600
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Immunodeficiency 72 With Autoinflammation
Increased circulating IgE level, Bronchiectasis, Recurrent otitis media, Increased circulating Ig... OMIM:618982
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Sclerosing cholangitis, Neutropenia, Decreased T cell activation, Chro... OMIM:308230
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Failure to thrive, Renal insuf... ORPHA:79312
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Autoimmune Hypoparathyroidism
Hypocalcemia, Autoimmunity, Hypocalcemic tetany, Conjunctivitis, Autoimmune antibody positivity, ... ORPHA:36913
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules OMIM:614072
Glycogen Storage Disease Due To Aldolase A Deficiency
Hemolytic anemia, Acute kidney injury, Growth delay, Elevated creatine kinase after exercise, Myo... ORPHA:57
Hermansky-Pudlak Syndrome 11
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation OMIM:619172
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Nephropathy, Focal segmental glomerulosclerosis OMIM:182690
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Renal insufficiency, Diffuse mesangial sclerosis, Nephrotic syndrome OMIM:249660
Nephrotic Syndrome, Type 13
Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney disease, Focal segmental glomerulosc... OMIM:616893
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Normochromic anemia, Decreased HDL cholesterol concentrat... OMIM:245900
Lipoprotein Glomerulopathy
Mesangial hypercellularity, Renal insufficiency, Glomerulopathy, Proteinuria OMIM:611771
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Galloway-Mowat Syndrome 3
Hiatus hernia, Camptodactyly, Glomerular sclerosis, Intrauterine growth retardation, Hypoalbumine... OMIM:617729
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Growth delay, Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Pancreatitis, ... ORPHA:289916
Focal Segmental Glomerulosclerosis 5
Microscopic hematuria, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeruloscle... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Hematuria, Proteinuria, Focal segmental glomerulosclerosis OMIM:607832
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Failure to thrive, Anemia, Renal insufficiency, Hyperammonemia ORPHA:28
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hematuria, Growth delay, Hepatomegaly, Proteinuria OMIM:614034
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hypercalcemia, Infantile, 1
Polyuria, Weight loss, Hypercalciuria, Failure to thrive, Infantile hypercalcemia, Nephrocalcinos... OMIM:143880
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Low-molecular-weight proteinuria, Tubulointerstitial fibrosis, Proximal tubulopathy, Glomerular s... OMIM:310468
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Hyperalaninemia, Stage 5 chronic kidney disease OMIM:618250
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Increased circulating IgA level, Re... OMIM:260920
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Lymphadenopathy, Pancytopenia, Thromb... ORPHA:824
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:614455
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Flexion contracture, Postnatal growth retardation,... OMIM:616733
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration, Obesity OMIM:603233
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
Dent Disease 2
Hypophosphatemia, Low-molecular-weight proteinuria, Proximal tubulopathy, Aminoaciduria, Umbilica... OMIM:300555
Beta-Ketothiolase Deficiency
Hyperammonemia, Thrombocytosis, Leukocytosis, Hyperuricemia, Weight loss, Hepatomegaly, Ketonuria ORPHA:134
Retinitis Pigmentosa 59
Hepatomegaly, Failure to thrive, Intrauterine growth retardation, Renal insufficiency, Micropenis OMIM:613861
Lcat Deficiency
Hemolytic anemia, Hematuria, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Renal insufficienc... ORPHA:650
Interstitial Nephritis, Karyomegalic
Nephronophthisis, Hematuria, Increased blood urea nitrogen, Elevated circulating creatinine conce... OMIM:614817
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubul... OMIM:256100
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Lymphopenia, Neutropenia, Recurrent ... ORPHA:2688
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Nephronophthisis
Renal insufficiency, Anemia ORPHA:655
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Celiac Disease, Susceptibility To, 1
Iron deficiency anemia, Hypocalcemia, Enamel hypoplasia, Thrombocytosis, Thyroiditis, Stomatitis,... OMIM:212750
Storage Pool Platelet Disease
Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Nephrotic Syndrome, Type 6
Tubulointerstitial fibrosis, Focal segmental glomerulosclerosis, Hypoalbuminemia, Nephrotic syndr... OMIM:614196
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Abnormality of the hepatic vasculature, Nodular regenerative hyperplasia of liver, Ele... ORPHA:247691
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Nephrotic syndrome OMIM:616220
Tyrosinemia, Type I
Cirrhosis, Enlarged kidney, Hypertyrosinemia, Hypophosphatemic rickets, Glomerular sclerosis, Hyp... OMIM:276700
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Elevated circulating C-reactive protein concentration, Mesangial hypercellularity, Crescentic glo... OMIM:616414
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Sh... OMIM:612462
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
3-Hydroxy-3-Methylglutaric Aciduria
Hyperammonemia, Thrombocytosis, Leukocytosis, 3-Methylglutaric aciduria, Hyperuricemia, Weight lo... ORPHA:20
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Increased circulating IgM level, Enlarged kidney, Flexion contracture, Heparan sulfate excretion ... ORPHA:505248
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Hemolytic anemia, Reticulocytosis, Distal renal tubular acidosis, Isothenuria, ... OMIM:611590
Galloway-Mowat Syndrome 5
Glomerular sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617731
Glycogen Storage Disease Ic
Xanthelasma, Hematuria, Focal segmental glomerulosclerosis, Chronic pancreatitis, Hepatocellular ... OMIM:232240
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Acute kidney injury, Leukocytosis, Lymphadenitis, C... OMIM:618886
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Slc35A1-Cdg
Prolonged bleeding time, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Decreased serum complement C4, Discoid lupus rash, Leukopenia, Myositis, Re... ORPHA:93552
Complement Component 4A Deficiency
Glomerulonephritis, Complement deficiency, Systemic lupus erythematosus OMIM:614380
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Glomerulopathy, Hypercalcemia, Anemia, Renal insufficiency, Proteinuria ORPHA:2668
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypercholesterolemia, Abnormal circulating alanine concentration, Hyperthreoninemia, Abnormal cir... ORPHA:247598
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Nephronophthisis 4
Nephronophthisis, Tubulointerstitial fibrosis, Growth delay, Polyuria, Renal tubular atrophy, Ren... OMIM:606966
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH administration, Sh... OMIM:103580
Nephrotic Syndrome, Type 22
Hypoproteinemia, Podocyte foot process effacement, Nephrotic range proteinuria, Glomerular sclero... OMIM:619155
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Immunodeficiency 19
Lymphopenia OMIM:615617
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Iron deficiency anemia, Hypoproteinemia, Thrombocytosis, Decreased circulating antibody level, Gr... OMIM:226300
Lathosterolosis
Horseshoe kidney, Intrahepatic cholestasis, Abnormal circulating cholesterol concentration, Hyper... OMIM:607330
Nephrosialidosis
Bone-marrow foam cells, Nephropathy, Ascites, Nephrotic syndrome, Renal insufficiency OMIM:256150
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Muckle-Wells Syndrome
Renal amyloidosis, Leukocytosis, Maculopapular exanthema, Conjunctivitis, Elevated circulating C-... OMIM:191900
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Acute kidney injury, Reticulocytos... ORPHA:90038
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Anemia, Lymphadenopathy OMIM:312500
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Obesity OMIM:615987
Aapoaiv Amyloidosis
Renal amyloidosis, Elevated circulating creatinine concentration, Glomerular sclerosis, Paraprote... ORPHA:439232
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Cellulitis, Antineutrophil antibody positivity, Lymphopenia, Leukemia, Periodontitis... ORPHA:486
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Mucopolysacchariduria, Macronodular cirrhosis, Abnormal T cell morphology, Small for gestational ... OMIM:215250
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Anemia, Splenomegaly ORPHA:294
Glycogen Storage Disease Vi
Hypercholesterolemia, Hyperlipidemia, Failure to thrive in infancy, Hepatomegaly, Hypertriglyceri... OMIM:232700
Galactokinase Deficiency
Hypercholesterolemia, Increased level of galactitol in plasma, Hypergalactosemia, Hepatomegaly, C... ORPHA:79237
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hepatomegaly, Hypercalcemia, Ascites, Anemia, Renal insufficiency, Renal hypopl... ORPHA:2123
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Decreased proportion of CD4-positive helper T cells, Recurrent bacterial skin infectio... ORPHA:276
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Branchiootorenal Syndrome 2
Renal insufficiency, Renal dysplasia OMIM:610896
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Failure to thrive in infancy, Decreased glomerular filtration rate, Tubulointerstitial nephritis,... ORPHA:488627
Anti-Glomerular Basement Membrane Disease
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Proteinuria ORPHA:375
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Hypocalcemia, Hypocalcemic tetany, Low urinary cyclic AMP response to PTH admi... ORPHA:94089
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Hepatomegaly, Splenome... OMIM:615846
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Bronchiectasis, Recur... OMIM:607594
Galloway-Mowat Syndrome 1
Hiatus hernia, Focal segmental glomerulosclerosis, Camptodactyly, Intrauterine growth retardation... OMIM:251300
Congenital Disorder Of Glycosylation, Type Iif
Thrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia, Macrothrombocytopenia OMIM:603585
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Lipodystrophy, Congenital Generalized, Type 3
Hypocalcemia, Hypercholesterolemia, Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertriglyce... OMIM:612526
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Nephronophthisis 11
Nephronophthisis, Growth delay, Polyuria, Renal tubular atrophy, Hepatic fibrosis, Renal corticom... OMIM:613550
Glanzmann Thrombasthenia
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding time ORPHA:849
Glomerulopathy With Fibronectin Deposits 1
Lobular glomerulopathy, Nephropathy, Glomerulopathy, Microscopic hematuria, Stage 5 chronic kidne... OMIM:137950
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Majeed Syndrome
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... ORPHA:77297
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:614199
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Exocrine pancreatic insufficiency, Growth delay, Hyperbili... ORPHA:1667
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Gout, Anemia, Renal insufficiency ORPHA:510
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Renal insufficiency, Hyperammon... ORPHA:27
Dent Disease
Renal phosphate wasting, Hematuria, Low-molecular-weight proteinuria, Hyperphosphaturia, Focal se... ORPHA:1652
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Increased circulating beta-2-microglobulin level, Monoclonal immunoglobulin M proteinemia, Cryogl... ORPHA:209004
Mirage Syndrome
Microphallus, Lymphopenia, Hyponatremia, Recurrent urinary tract infections, Decreased body weigh... OMIM:617053
Calciphylaxis
Cellulitis, Hyperphosphatemia, Stage 5 chronic kidney disease ORPHA:280062
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmune hemolytic anemia, Autoimmunity, Decreased proportion of CD3-positive T cell... ORPHA:331206
Thrombocythemia 2
Thrombocytosis OMIM:601977
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemia, Postnatal growth retardation, Severe intrauterine growth retardation, Micropenis, H... OMIM:241410
Alport Syndrome 3, Autosomal Dominant
Hypophosphatemia, Hematuria, Azotemia, Thickened glomerular basement membrane, Glomerulonephritis... OMIM:104200
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Skin rash, Chronic oral candidiasis, Decreased circulating IgE, Impaired lymph... OMIM:300400
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Hypomagnesemia 3, Renal
Hypocitraturia, Renal calcium wasting, Hematuria, Polyuria, Hyperuricemia, Recurrent urinary trac... OMIM:248250
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating IgG level, Elevated circulating C-reactive protein concentration, Cardiomeg... OMIM:256040
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly, Lymphadenopathy OMIM:619164
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Trimethylaminuria
Neutropenia, Splenomegaly, Anemia, Recurrent pneumonia, Trimethylaminuria OMIM:602079
Bardet-Biedl Syndrome 16
Renal agenesis, Recurrent otitis media, Renal dysplasia, Renal cyst, Renal insufficiency, Abnorma... OMIM:615993
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Hypercholesterolemia, Decreased HDL cholesterol concentration, Cirrhosis,... OMIM:278000
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hydroxyprolinemia, Hydroxyprolinuria, Hyperuricemia, Short stature, Hyperphosphatemia OMIM:239000
Galactosemia Iii
Hypergalactosemia, Aminoaciduria, Hepatomegaly, Jaundice, Galactosuria, Failure to thrive, Spleno... OMIM:230350
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Prolonged bleeding time OMIM:193400
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Coenzyme Q10 Deficiency, Primary, 3
Proteinuria, Nephrotic syndrome OMIM:614652
Hermansky-Pudlak Syndrome 2
Prolonged bleeding time, Reduced natural killer cell activity, Impaired ADP-induced platelet aggr... OMIM:608233
Babesiosis
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly, Renal insuf... ORPHA:108
Galactosemia I
Increased level of galactitol in red blood cells, Cirrhosis, Hemolytic anemia, Albuminuria, Incre... OMIM:230400
Takenouchi-Kosaki Syndrome
Camptodactyly, Unilateral renal agenesis, Increased mean platelet volume, Thrombocytopenia, Ingui... OMIM:616737
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hepatic cysts, Decreased glomerular filtration rate, Gout, Stage 5 chronic kidney disease, Renal ... OMIM:618061
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circula... ORPHA:277
Cockayne Syndrome Type 1
Enamel hypoplasia, Increased blood urea nitrogen, Scarring, Uveitis, Postnatal growth retardation... ORPHA:90321
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Enamel hypoplasia, Calcinosis, Nephrocalcinosis, Decreased renal tubular phosphate excretion, Hyp... OMIM:211900
Hyperuricemic Nephropathy, Familial Juvenile, 3
Renal insufficiency, Nephropathy OMIM:614227
Coach Syndrome 3
Renal interstitial fibrosis, Nephronophthisis, Renal interstitial inflammation, Renal tubular atr... OMIM:619113
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Truncal obesity, Short stature, Failure to thrive, Hypoplasia of penis ORPHA:181393
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Hepatocellular adenoma, Hepatic steatosis, Portal fibrosis, Grow... ORPHA:264580
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemia, Hypercalciuria, Hypomagnesemia, Hyperphosphatemia, Hypocalcemic seizures ORPHA:2239
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Cirrhosis, Hepatocellular adenoma, Hepatocellular carcinoma, Hepatic steato... ORPHA:370
Apolipoprotein A-I Deficiency
Splenomegaly, Anemia, Decreased HDL cholesterol concentration, Abnormality of the liver, Lymphade... ORPHA:425
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Nephrotic syndrome, Short stature, Anemia, Proteinuria ORPHA:1192
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:617514
Leishmaniasis
Abnormal macrophage morphology, Increased circulating antibody level, Weight loss, Pancytopenia, ... ORPHA:507
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Hematuria, Autoimmune thrombocytopenia, Superficial d... ORPHA:324636
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... OMIM:619126
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Elevated circulating creatinine concentration, Absence of rena... OMIM:602088
Sanjad-Sakati Syndrome
Hypocalcemia, Abnormal dental enamel morphology, Postnatal growth retardation, Severe intrauterin... ORPHA:2323
Amyloidosis, Familial Visceral
Skin rash, Hematuria, Nephropathy, Cholestasis, Hepatomegaly, Splenomegaly, Nephrotic syndrome, P... OMIM:105200
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hemolytic anemia, Reticulocytosis, Hyperbilirubinemia, Decreased hemoglobin concentration, Myoglo... ORPHA:713
Refractory Celiac Disease
Iron deficiency anemia, Hypocalcemia, Hypoproteinemia, Hypophosphatemia, Inflammatory abnormality... ORPHA:398063
Nail-Patella-Like Renal Disease
Glomerulopathy, Microscopic hematuria, Short stature, Renal insufficiency, Proteinuria ORPHA:2613
Congenital Disorder Of Glycosylation, Type Iio
Hypercholesterolemia, Cirrhosis, Hepatomegaly, Prolonged neonatal jaundice, Cholestatic liver dis... OMIM:616828
Bardet-Biedl Syndrome 18
Renal insufficiency, Obesity OMIM:615995
Neutropenia, Chronic Familial
Increased circulating antibody level, Periodontitis, Neutropenia OMIM:162700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Failure to thrive in infancy, B lymphocytop... OMIM:618987
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Splenomegaly, Cardiomegaly, ... OMIM:269920
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Anemia OMIM:619398
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Skin rash, Neutropenia, Thrombocy... OMIM:603552
Congenital Disorder Of Glycosylation, Type Iig
Rhizomelia, Camptodactyly, Failure to thrive in infancy, Postnatal growth retardation, Thrombocyt... OMIM:611209
Acute Adrenal Insufficiency
Autoimmunity, Decreased circulating cortisol level, Hyponatremia, Hyperuricemia, Renal salt wasti... ORPHA:95409
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Skin rash, Neutropenia, Maculopapular exanthema, Ab... ORPHA:540
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Mild postnatal growth retardation, Small for gestational age, Short st... OMIM:101800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Ebola Hemorrhagic Fever
Skin rash, Thrombocytopenia, Leukopenia, Renal insufficiency, Proteinuria ORPHA:319218
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Pearson Syndrome
Hypocalcemia, Reticulocytosis, Neutropenia, Pancreatic fibrosis, Postnatal growth retardation, Pa... ORPHA:699
Camos Syndrome
Renal insufficiency, Nephrotic syndrome ORPHA:83472
Sepsis In Premature Infants
Leukocytosis, Reversible renal failure, Neutropenia, Decreased body weight, Thrombocytopenia, Oli... ORPHA:90051
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Increased circulating guanosine concentration, Autoimmune thrombocytopenia... OMIM:613179
Cystinosis, Nephropathic
Decreased plasma carnitine, Exocrine pancreatic insufficiency, Generalized aminoaciduria, Hypopho... OMIM:219800
Legionnaires Disease
Hematuria, Cellulitis, Pericarditis, Endocarditis, Myocarditis, Lymphopenia, Hyponatremia, Jaundi... ORPHA:549
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hematuria, Megaloblastic anemia, Neutropenia, Cystathioninuria, Nephropathy, Thrombocytopenia, He... OMIM:277400
Thyrocerebrorenal Syndrome
Thrombocytopenia, Renal insufficiency, Nephritis ORPHA:3327
Primary Sjögren Syndrome
Cryoglobulinemia, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Decreased ser... ORPHA:289390
Immunodeficiency, Common Variable, 7
Recurrent urinary tract infections, Reduced isohemagglutinin level, Decreased circulating total I... OMIM:614699
Harderoporphyria
Increased circulating ferritin concentration, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Pr... OMIM:618892
Immunodeficiency, Common Variable, 8, With Autoimmunity
Bronchiectasis, Decreased specific antibody response to vaccination, Thyroiditis, Generalized lym... OMIM:614700
Maternally-Inherited Diabetes And Deafness
Renal insufficiency, Glomerulopathy, Abnormal circulating lipid concentration, Proteinuria ORPHA:225
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly OMIM:206400
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypercholesterolemia, Xanthelasma, Thyroiditis, Hyperuricemia, Delayed puberty, Anemia, Hyperlipi... ORPHA:79259
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine, Hematuria, Elevated urinary norepinephrine, Glomerular sclerosis, Elev... ORPHA:276621
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Weight loss, Oliguria,... ORPHA:514
Neuraminidase Deficiency
Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Inguinal hernia, Urinary excretion ... OMIM:256550
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Increased hepatic glycogen content, Cirrhosis, Hepatocellular carcinoma, Growth delay, Hyperlipid... ORPHA:369
Fibronectin Glomerulopathy
Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Hypoalbuminemia,... ORPHA:84090
Immunodeficiency 60
Decreased proportion of memory B cells, Bronchiectasis, Decreased circulating IgE, Decreased baso... OMIM:618394
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Folliculitis, Acne, Inflammation ... OMIM:300635
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Hemoglobinuria, Prolonged neon... OMIM:300908
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Thrombocytopenia, Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic acid... OMIM:251000
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Cholestatic liver disease, Chronic kidney disease, Nephropathy, Abnormal tubulointerstitial morph... OMIM:602114
Hypomagnesemia, Seizures, And Mental Retardation 2
Renal potassium wasting, Polyuria, Hypokalemia, Renal magnesium wasting, Hypomagnesemia OMIM:618314
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Lipodystrophy, Visceromegaly,... ORPHA:2905
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Short stature, Anemia ORPHA:3319
Bartter Syndrome, Type 2, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:241200
Immunodeficiency 48
Eczematoid dermatitis, Panhypogammaglobulinemia, Pneumonia, Hepatomegaly, Failure to thrive, Sple... OMIM:269840
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Hepatomegaly, Jaundice, Increased body weight, Ascites, Renal insuffic... ORPHA:890
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Gaucher Disease Type 1
Cirrhosis, Hematuria, Increased circulating antibody level, Growth delay, Biliary tract obstructi... ORPHA:77259
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Skin rash, Pancytopenia, Reduced natural killer cel... OMIM:616050
Goodpasture Syndrome
Erythrocyte cylindruria, Increased blood urea nitrogen, Cylindruria, Anti-myeloperoxidase antibod... OMIM:233450
Bartter Syndrome, Type 1, Antenatal
Renal juxtaglomerular cell hypertrophy/hyperplasia, Increased urinary potassium, Hypercalciuria, ... OMIM:601678
Transcobalamin Ii Deficiency
Neutropenia, Reticulocytopenia, Pancytopenia, Methylmalonic aciduria, Decreased circulating IgA l... OMIM:275350
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Lipodystrophy OMIM:305800
Gitelman Syndrome
Hypocalciuria, Chondrocalcinosis, Nocturia, Renal potassium wasting, Growth delay, Polyuria, Enur... OMIM:263800
Thrombocythemia 3
Thrombocytosis OMIM:614521
Diabetes Insipidus, Neurohypophyseal Type
Hypokalemia, Polyuria, Hydronephrosis OMIM:304900
Infection-Related Hemolytic Uremic Syndrome
Acute colitis, Hypocalcemia, Hemolytic anemia, Acute kidney injury, Leukocytosis, Anuria, Nephrot... ORPHA:544482
Cystinosis
Hypophosphatemia, Aminoaciduria, Nephropathy, Delayed puberty, Hypokalemia, Failure to thrive, Po... ORPHA:213
Myoglobinuria, Acute Recurrent, Autosomal Recessive
Elevated circulating creatine kinase concentration, Hyperkalemia, Acute kidney injury, Myoglobinuria OMIM:268200
Hemorrhagic Fever-Renal Syndrome