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 lethality prior to tooth bud stage Pik3c2atm1b(EUCOMM)Hmgu HOM   E12.5 0.00
increased neutrophil cell number Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 2.32×10-14
abnormal embryo size Pik3c2atm1b(EUCOMM)Hmgu HOM E9.5 0.00
decreased lymphocyte cell number Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 1.66×10-06
preweaning lethality, complete penetrance Pik3c2atm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased locomotor activity Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 4.97×10-05
embryonic growth retardation Pik3c2atm1b(EUCOMM)Hmgu HOM E9.5 0.00
enlarged lymph nodes Pik3c2atm1b(EUCOMM)Hmgu HET Early adult 0.00

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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 1.72% (1 of 58)
brain 1.09% (5 of 460)
central nervous system ganglion 1.56% (1 of 64)
ear 0.22% (1 of 462)
embryo 0.22% (1 of 460)
eye 0.22% (1 of 448)
footplate 0.22% (1 of 464)
forebrain 0.22% (1 of 450)
forelimb 0.22% (1 of 453)
gut 1.92% (1 of 52)
handplate 0.22% (1 of 449)
head 1.08% (5 of 461)
heart 0.23% (1 of 443)
hindbrain 1.1% (5 of 454)
hindlimb 0.22% (1 of 464)
liver 0.22% (1 of 448)
lung 0.22% (1 of 448)
mandibular process 0.22% (1 of 463)
maxillary process 0.22% (1 of 450)
midbrain 0.22% (1 of 453)
nose 1.43% (1 of 70)
oral cavity 0.22% (1 of 455)
skeleton 1.54% (1 of 65)
skin 0.21% (1 of 469)
spinal cord 0.0%
tail 0.22% (1 of 445)
tail somite group 0.22% (1 of 457)
trachea 1.89% (1 of 53)
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.

Combined SHIRPA and Dysmorphology

Images

4 Images

Embryo LacZ

LacZ images wholemount

67 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Gross Pathology and Tissue Collection

Images

8 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

14 Images

X-ray

XRay Images Hind Leg and Hip

4 Images

Eye Morphology

Images Slit Lamp

5 Images

Gross Morphology Embryo E9.5

Images

5 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
Impaired ADP-induced platelet aggregation, Impaired arachidonic acid-induced platelet aggregation... OMIM:619130
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Splenomegaly, Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Bleeding Disorder, Platelet-Type, 24
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Imp... OMIM:619271
Platelet Signal Processing Defect
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired collagen-induced platelet a... OMIM:173590
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Platelet anisocytosis, Giant platelets, Ane... OMIM:187800
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Thr... OMIM:187950
Athrombia, Essential
Impaired platelet adhesion, Impaired platelet aggregation, Prolonged bleeding time OMIM:209050
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased serum complement C4, Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia,... OMIM:615559
Glanzmann Thrombasthenia 2
Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Dec... OMIM:619267
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Impaired platelet aggr... OMIM:300835
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:173420
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Immunodeficiency 40
Lymphopenia OMIM:616433
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Malar rash, Elev... OMIM:603909
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Increased CD4:CD8 ratio, Autoimmunity, Nephrotic syndrome, Prot... OMIM:617006
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation OMIM:618462
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Histiocytosis, Pneumonia, Thrombocytosis, Rheumatoid factor pos... OMIM:209950
Immunodeficiency 64
Decreased circulating IgG level, Autoimmune hemolytic anemia, Anti-thyroid peroxidase antibody po... OMIM:618534
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute myeloid leukemia, Abnormal dense granule content, Thrombocyt... OMIM:601399
Immunodeficiency, Common Variable, 6
Enlarged kidney, Chronic decreased circulating total IgG, Complete or near-complete absence of sp... OMIM:613496
+173470 integrin, beta-3
Neonatal alloimmune thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Post-transfusion ... OMIM:173470
Immunodeficiency 91 And Hyperinflammation
Recurrent pneumonia, Hepatosplenomegaly, Monocytosis, Hemolytic-uremic syndrome, Hemophagocytosis... OMIM:619644
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
Polycythemia Vera
Leukocytosis, Increased hemoglobin, Increased hematocrit, Thrombocytosis, Splenomegaly, Increased... OMIM:263300
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Impaired platelet aggregation OMIM:615888
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Proteinuria, Acute kidney injury, Glomerulonephrit... OMIM:615008
Lysinuric Protein Intolerance
Oroticaciduria, Proteinuria, Renal amyloidosis, Anemia, Membranous nephropathy, Pancreatitis, Thr... ORPHA:470
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Autoimmune hemolytic anemia, Iron deficiency anemia, Elevated proport... OMIM:601859
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Autoimmune hemolytic anemia, Glomerulonephritis, Increased circulating antibody level,... OMIM:247800
C3 Glomerulopathy
Decreased serum complement C4, Autoimmunity, Lipodystrophy, Glomerular extracapillary hypercellul... ORPHA:329918
Von Willebrand Disease
Abnormal platelet function, Abnormality of thrombocytes ORPHA:903
Idiopathic Non-Lupus Full-House Nephropathy
Decreased serum complement C4, Nephrotic syndrome, Elevated circulating creatinine concentration,... ORPHA:567544
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired platelet aggregation OMIM:617443
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Proteinuria, Anemia, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segme... OMIM:603278
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Hypoplastic anemia, Spl... ORPHA:2585
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Glomerulonephritis, Thrombocytopenia, Hematuria OMIM:314000
Hereditary Amyloidosis With Primary Renal Involvement
Abnormality of the lymph nodes, Hepatosplenomegaly, Elevated circulating creatinine concentration... ORPHA:85450
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Renal cyst, Intrauterine growth retardation, Chronic kidney disease, Hyperuricemia, Neutropenia, ... OMIM:617056
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Acute kidney injury, Proteinuria, Decrease... ORPHA:650
Nephrotic Syndrome, Type 14
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Micropenis, Hypoalbuminemia, Hypert... OMIM:617575
Immunodeficiency 69
Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Hepatosplenomegaly, Thr... OMIM:618963
Glanzmann Thrombasthenia 1
Decreased platelet glycoprotein IIb-IIIa, Impaired clot retraction, Prolonged bleeding time, Impa... OMIM:273800
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Autoimmunity, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hep... OMIM:614470
Tubulointerstitial Nephritis With Uveitis
Acute tubulointerstitial nephritis, Uveitis, Elevated circulating creatinine concentration, Glome... OMIM:607665
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Glomerular sclerosis, Elevated circulating creatinine concentration, Decreased glomerular filtrat... OMIM:174000
Hermansky-Pudlak Syndrome 3
Abnormal number of dense granules, Impaired platelet aggregation OMIM:614072
Preeclampsia
Autoimmunity, Elevated circulating creatinine concentration, Small for gestational age, Acute kid... ORPHA:275555
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Prolong... OMIM:231200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Renal hypoplasia, Chronic kidney disease, Hyperuricemia, Tubulointerstitial fibrosis... OMIM:613092
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia, Prolonged bleeding time OMIM:608404
Immunodeficiency 81
Reduced antigen-specific T cell proliferation, Impaired neutrophil chemotaxis, Reduced natural ki... OMIM:619374
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Diffuse mesangial sclerosis, Reduced red cell adenosine deaminase level, Recurrent ... OMIM:102700
Immunodeficiency 8
Lymphopenia OMIM:615401
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyponatremia, Proteinuria, Polyuria, Chronic kidney disease, Renal salt wasting, Hype... OMIM:613845
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Anti-dsDNA antibody positivity, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Gl... OMIM:619375
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Hypercholesterolemia, Proteinuria, Abnormal circulating lipid concen... ORPHA:567548
Myh9-Related Disease
Proteinuria, Giant platelets, Nephritis, Nephropathy, Neutrophil inclusion bodies, Renal insuffic... ORPHA:182050
Fechtner syndrome
Leukocyte inclusion bodies, Hematuria, Proteinuria, Giant platelets, Nephritis, Neutrophil inclus... OMIM:153640
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:609820
Lipodystrophy, Partial, Acquired, Susceptibility To
Nephrotic syndrome, Hematuria, Proteinuria, Abnormal circulating lipid concentration, Loss of tru... OMIM:608709
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased circulating IgG level, Uveitis, Rheumatoid factor positive, Autoimmune he... ORPHA:3261
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephrotic syndrome, Proteinuria, Glomerulopathy, Nephropathy, Renal insufficiency, Thrombocytopen... OMIM:254900
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hematuria, Proteinuria, Thrombocytosis, Coombs-posi... OMIM:614034
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Glycogen Storage Disease Ib
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232220
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Recurrent pneumonia, Decreased circulating IgG level, Leukocytos... OMIM:619281
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation, Prolonged bleeding time OMIM:277480
Erythrocytosis, Familial, 4
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:611783
Drug-Induced Lupus Erythematosus
Decreased serum complement C4, Hematuria, Autoimmune antibody positivity, Increased blood urea ni... ORPHA:231111
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation OMIM:614009
Bleeding Disorder, Platelet-Type, 8
Impaired ADP-induced platelet aggregation OMIM:609821
Schimke Immuno-Osseous Dysplasia
Autoimmunity, Proteinuria, Disproportionate short-trunk short stature, Anemia, Microscopic hematu... ORPHA:1830
Hemorrhagic Fever-Renal Syndrome
Oliguria, Increased circulating interleukin 6 concentration, Acute tubulointerstitial nephritis, ... ORPHA:340
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Hypoproteinemia, Hyperlipidemia, Glomerular sclerosis, Small for ges... OMIM:256300
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:616730
Erythrocytosis, Familial, 5
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617907
Erythrocytosis, Familial, 6
Increased hemoglobin, Increased hematocrit, Polycythemia OMIM:617980
Sitosterolemia 1
Impaired platelet aggregation, Giant platelets, Splenomegaly, Chronic hemolytic anemia, Stomatocy... OMIM:210250
Pgm3-Cdg
Autoimmunity, Decreased proportion of CD3-positive T cells, Rheumatoid factor positive, Decreased... ORPHA:443811
Atypical Hemolytic Uremic Syndrome
Hematuria, Proteinuria, Acute kidney injury, Complement deficiency, Abnormality of complement sys... ORPHA:2134
Sting-Associated Vasculopathy, Infantile-Onset
Myositis, Leukopenia, Rheumatoid factor positive, Increased circulating IgG level, Paratracheal l... OMIM:615934
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Nephrolithiasis, Hematuria, Abnormality of circulating enzyme level, Dysuria, D... ORPHA:93598
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Chronic kidney disease, Thin glomer... OMIM:615244
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic ki... OMIM:610725
Immunodeficiency 24
Decreased circulating IgG level, Reduced antigen-specific T cell proliferation, Reduced proportio... OMIM:615897
Diffuse Alveolar Hemorrhage
Decreased serum complement C4, Autoimmunity, Leukocytosis, Elevated circulating creatinine concen... ORPHA:90060
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Incre... OMIM:202700
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Nephrolithiasis, Increased circulating renin level, Hypercalciuria... OMIM:601198
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Nephrotic syndrome, IgA deposition in the glomerulus, Proteinuria, H... OMIM:618348
X-Linked Lymphoproliferative Disease
Pancytopenia, Autoimmunity, Decreased circulating IgG level, Histiocytosis, Absent natural killer... ORPHA:2442
Congenital Disorder Of Glycosylation, Type Ia
Decreased circulating IgG level, Renal cyst, Hepatic steatosis, Nephrotic syndrome, Flexion contr... OMIM:212065
Mucopolysaccharidosis-Plus Syndrome
Recurrent pneumonia, Enlarged kidney, Leukopenia, Bone marrow hypocellularity, Nephrotic syndrome... OMIM:617303
Acquired Partial Lipodystrophy
Autoimmunity, Hepatic steatosis, Proteinuria, Lipoatrophy, Glomerulopathy, Microscopic hematuria,... ORPHA:79087
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Glomerulonephritis, ... OMIM:304790
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Microcytic anemia, Sterile abscess, Cellulitis, Hepatosplenomegaly, Sterile arthrit... OMIM:604416
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia, Prolonged bleeding time OMIM:177820
Immunodeficiency 14A, Autosomal Dominant
Cellulitis, T lymphocytopenia, Increased circulating IgM level, Decreased specific pneumococcal a... OMIM:615513
Simple Cryoglobulinemia
Monoclonal elevation of IgG, Viral hepatitis, Monoclonal immunoglobulin M proteinemia, Nephrotic ... ORPHA:91139
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Recurrent otitis media, Increased circulating IgG level, Increased circulating IgM level, Autoimm... OMIM:619220
Erythrocytosis, Familial, 1
Splenomegaly, Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:133100
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Glycosuria, Nephrocalcinosis, Hyposthenuria, Proximal tubulopathy, Hypercalciuria, Beta 2-microgl... OMIM:308990
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
Multiple Myeloma
Nephrotic syndrome, Elevated circulating creatinine concentration, Hypercalcemia, Acute kidney in... ORPHA:29073
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Hypereosinophilia, Uveitis, Increased circulating IgG level, Increased circul... OMIM:617388
Focal Segmental Glomerulosclerosis 6
Nephrotic syndrome, Hematuria, Proteinuria, Chronic kidney disease, Renal tubular atrophy, Hypoal... OMIM:614131
Systemic Lupus Erythematosus
Leukopenia, Arthritis, Antiphospholipid antibody positivity, Systemic lupus erythematosus, Nephri... OMIM:152700
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmunity, Failure to thrive in infancy, Autoimmune hemolytic anemia, Iron deficiency anemia, ... ORPHA:37042
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Proteinuria, Peritonitis, Chronic kidney disease, Hypoalbuminemia, F... ORPHA:656
Nephrotic Syndrome, Type 2
Hyperlipidemia, Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease,... OMIM:600995
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Abnormal immunoglobulin level, ... OMIM:242900
Oligomeganephronia
Unilateral renal agenesis, Abnormality of medullary pyramid morphology, Elevated circulating crea... ORPHA:2260
Senior-Loken Syndrome 1
Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:266900
Senior-Loken Syndrome 4
Nephronophthisis, Anemia, Stage 5 chronic kidney disease, Polyuria OMIM:606996
Macrothrombocytopenia and progressive sensorineural deafness
Giant platelets, Thrombocytopenia, Prolonged bleeding time, Macrothrombocytopenia OMIM:600208
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Hyperlipidemia, Elevated circulating creatinine concentration, Hemolytic-uremic s... OMIM:235400
Igg4-Related Kidney Disease
Decreased serum complement C4, Elevated circulating creatinine concentration, Rheumatoid factor p... ORPHA:449395
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Autoimmunity, Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Septic art... OMIM:617780
Complement Component 3 Deficiency, Autosomal Recessive
Nephrotic syndrome, Systemic lupus erythematosus, Decreased serum complement C3, Renal insufficie... OMIM:613779
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Recurrent pneumonia, Increased circulating IgG level, Antimitoch... OMIM:610163
Galloway-Mowat Syndrome 8
Nephrotic syndrome, Hematuria, Proteinuria, Enamel hypoplasia, Renal tubular atrophy, Hypoalbumin... OMIM:618349
Distal Renal Tubular Acidosis
Hypokalemia, Hypermagnesiuria, Nephrocalcinosis, Renal cyst, Nephrolithiasis, Hypocitraturia, Hyp... ORPHA:18
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Decreased circulating IgG level, Reduced natural killer cell activity, Hemophagocyt... OMIM:308240
Autoimmune Hepatitis
Viral hepatitis, Ascites, Ulcerative colitis, Sclerosing cholangitis, Jaundice, Inflammation of t... ORPHA:2137
Transcobalamin Deficiency
Pancytopenia, Decreased circulating total IgM, Decreased circulating IgG level, Methylmalonic aci... ORPHA:859
Nephrotic Syndrome, Type 9
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Focal segmental... OMIM:615573
Insulin-Resistance Syndrome Type B
Glycosuria, Autoimmunity, Biliary cirrhosis, Proteinuria, Thrombocytopenia, Skin rash, Leukopenia... ORPHA:2298
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Increased circulating IgG level, Rheumatoid factor positive, Decreased eosinophi... OMIM:619632
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Lipodystrophy, Nephrotic syndrome, Loss of facial adipose tissue, Hematuria, Proteinuria, Decreas... OMIM:613913
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Increased alpha-globulin, Histiocytosis OMIM:235900
Preeclampsia/Eclampsia 1
Thrombocytopenia, Intrauterine growth retardation, Proteinuria OMIM:189800
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Decreased glomerular filtration rate, Hyperuricemia, Renal tubular atrophy, Nephritis, Nephropath... OMIM:162000
Brucellosis
Rheumatoid factor positive, Sacroiliac arthritis, Arteritis, Anemia, Epididymitis, Liver abscess,... ORPHA:1304
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Proteinuria, Acute kidney injury, Hematuria, Renal insufficiency, Ret... ORPHA:54057
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Recurrent otitis media, Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, In... OMIM:618495
Pauci-Immune Glomerulonephritis
Glomerular sclerosis, Elevated circulating creatinine concentration, Proteinuria, Acute kidney in... ORPHA:93126
Syndromic Diarrhea
Hepatoblastoma, Abnormality of the liver, Cirrhosis, Intrauterine growth retardation, Small for g... ORPHA:84064
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Severe short stature, Decreased glomerular filtration rate, Elevated circulating creatinine conce... OMIM:242530
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Unilateral renal hypoplasia, Rheumatoid factor pos... ORPHA:49041
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Reduced renal corticomedullary differentiation, Hypochloremia, Decreas... OMIM:602522
Paternal Uniparental Disomy Of Chromosome 1
Enlarged kidney, Hypercalcemia, Proteinuria, Increased blood urea nitrogen, Delayed puberty, Obes... ORPHA:251004
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Mesangial hypercellularity, Proteinuria, Steroid-resistant neph... OMIM:619201
Aicardi-Goutieres Syndrome 9
Proteinuria, Anemia, Recurrent urinary tract infections, Hyperechogenic kidneys, Ascites, Stage 5... OMIM:619487
Mu-Heavy Chain Disease
Splenomegaly, Hepatomegaly, Abnormal B cell count, Anemia, Bence Jones Proteinuria, Increased cir... ORPHA:100024
Nephrotic Syndrome, Type 17
Proteinuria, Short stature, Steroid-resistant nephrotic syndrome, Microscopic hematuria, Stage 5 ... OMIM:618176
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Increased blood urea nitro... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Increased blood urea nitro... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Increased blood urea nitro... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Increased blood urea nitro... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Hematuria, Proteinuria, Increased blood urea nitro... OMIM:612926
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lipodystrophy, Leukocytosis, Failure to thrive in infancy, Increased circulating IgM level, Incre... OMIM:617099
Thymoma
Autoimmunity, Myositis, Abnormal lymphocyte proliferation, Leukemia, Abnormal lymphocyte physiolo... ORPHA:99867
Nephrotic Syndrome, Type 15
Nephrotic syndrome, Proteinuria, Hypoalbuminemia, Stage 5 chronic kidney disease, Minimal change ... OMIM:617609
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Glomerular sclerosis, Nephrotic syndrome, Elevated circulating creatine kinase conc... OMIM:607426
Neuroleptic Malignant Syndrome
Leukocytosis, Hyponatremia, Proteinuria, Thrombocytosis, Hyperkalemia, Hypocalcemia, Acute kidney... ORPHA:94093
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Beta 2-microglobulinuria, Chorioretinal scar, Scle... ORPHA:91500
Galloway-Mowat Syndrome 6
Decreased body weight, Nephrotic syndrome, Intrauterine growth retardation, Proteinuria, Growth d... OMIM:618347
Igg4-Related Aortitis
Autoimmunity, Hypereosinophilia, Weight loss, Hydronephrosis, Increased inflammatory response, In... ORPHA:449400
Sebastian syndrome
Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets, Prolonged bleeding time... OMIM:605249
Hypercalcemia, Infantile, 2
Nephrocalcinosis, Hypercalcemia, Hypercalciuria, Polyuria, Failure to thrive, Medullary nephrocal... OMIM:616963
Nephronophthisis-Like Nephropathy 2
Periglomerular fibrosis, Elevated circulating creatinine concentration, Polyuria, Bronchiectasis,... OMIM:619468
Primary Membranoproliferative Glomerulonephritis
Nephrotic syndrome, Acute kidney injury, Proteinuria, Chronic kidney disease, Glomerular subendot... ORPHA:54370
Boutonneuse Fever
Leukopenia, Increased circulating IgG level, Increased circulating IgM level, Maculopapular exant... ORPHA:83313
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Hereditary Renal Hypouricemia
Abnormal renal tubule morphology, Uric acid urolithiasis independent of gout, Hematuria, Hyperuri... ORPHA:94088
Nephrotic Syndrome, Type 24
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619263
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Hydronephrosis, Splenomegaly, Growth delay, Hepatomegaly, Neutropenia, A... OMIM:612541
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Cystic Echinococcosis
Eosinophilia, Renal cyst, Abnormality of the pancreas, Biliary tract obstruction, Hepatic cysts, ... ORPHA:400
C1Q Deficiency
Membranoproliferative glomerulonephritis, Autoimmunity, Systemic lupus erythematosus, Decreased s... OMIM:613652
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Short stature... OMIM:617730
Hermansky-Pudlak Syndrome 6
Impaired ADP-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet granules OMIM:614075
Genetic Recurrent Myoglobinuria
Oliguria, Myositis, Acute kidney injury, Hyperkalemia, Hypocalcemia, Highly elevated creatine kin... ORPHA:99845
Malaria
Acute kidney injury, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubi... ORPHA:673
Trichohepatoenteric Syndrome 1
Renal cortical microcysts, Intrauterine growth retardation, Small for gestational age, Cholestasi... OMIM:222470
Glycogen Storage Disease Ia
Enlarged kidney, Hyperlipidemia, Nephrolithiasis, Proteinuria, Decreased glomerular filtration ra... OMIM:232200
Schnitzler Syndrome
Leukocytosis, Increased circulating IgM level, Splenomegaly, Hepatomegaly, Anemia, Lymphadenopath... ORPHA:37748
Autosomal Dominant Polycystic Kidney Disease
Enlarged kidney, Pyelonephritis, Renal cyst, Elevated circulating creatinine concentration, Hemat... ORPHA:730
Relapsing Fever
Leukopenia, Leukocytosis, Elevated circulating creatinine concentration, Acute kidney injury, Hem... ORPHA:91547
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Immunodeficiency With Hyper-Igm, Type 3
Decreased circulating IgG level, Decreased circulating IgE, Increased circulating IgM level, Abse... OMIM:606843
Focal Segmental Glomerulosclerosis 10
Proteinuria, Renal insufficiency, Stage 5 chronic kidney disease, Minimal change glomerulonephrit... OMIM:256020
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Nephrotic syndrome, Glomerular deposits, Renal insufficiency ORPHA:69063
Focal Segmental Glomerulosclerosis 2
Nephrotic syndrome, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal se... OMIM:603965
Focal Segmental Glomerulosclerosis 7
Nephrotic syndrome, Proteinuria, Renal hypoplasia, Stage 5 chronic kidney disease, Focal segmenta... OMIM:616002
Juvenile Arthritis
Thrombocytosis, Antinuclear antibody positivity, Leukocytosis, Skin rash OMIM:618795
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly, Nephrotic syndrome, Eosinophilic liver infiltration, Colonic eo... OMIM:618999
Undritz Anomaly
Hypersegmentation of neutrophil nuclei OMIM:191500
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Systemic lupus eryt... OMIM:616871
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:615193
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Nephrotic syndrome, Nephroblastoma, Renal insufficiency, Focal segme... OMIM:256370
Nephrotic Syndrome, Type 18
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:618177
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration, Proteinuria, Nephritis, Microscopic hematuria, Ren... OMIM:161900
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Elevated circulating creatinine concentration, Hemolytic-uremic syndrome, Protein... OMIM:274150
Focal Segmental Glomerulosclerosis 8
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:616032
Nephrotic Syndrome, Type 20
Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:301028
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM, Impaired lymphocyte transformation with phytohemagglutinin OMIM:236000
Nephrotic Syndrome, Type 19
Steroid-resistant nephrotic syndrome, Chronic kidney disease, Focal segmental glomerulosclerosis,... OMIM:618178
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria OMIM:614650
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Holoprosencephaly, Recurrent Infections, And Monocytosis
Micropenis, Failure to thrive, Recurrent skin infections, Monocytosis OMIM:610680
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Immunodeficiency 23
Eosinophilia, Increased circulating IgG level, Rheumatoid factor positive, Increased circulating ... OMIM:615816
Immunodeficiency 92
Decreased circulating IgG level, Sclerosing cholangitis, Leukocytosis, Pneumonia, Cholangitis, Th... OMIM:619652
Bacterial Toxic-Shock Syndrome
Cellulitis, Elevated circulating creatinine concentration, Increased circulating myelocyte count,... ORPHA:36234
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Hematuria, Steroid-resistant nephrotic syndrome, Stage 5 chronic kid... OMIM:616892
Nephrotic Syndrome, Type 21
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, St... OMIM:618594
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced antigen-specific T cell proliferation, Small for gestational age, Increased circulating I... OMIM:617241
Hyperparathyroidism, Neonatal Severe
Hypercalcemia, Hypercalciuria, Polyuria, Splenomegaly, Hyperphosphaturia, Hepatomegaly, Anemia, A... OMIM:239200
Galloway-Mowat Syndrome 2, X-Linked
Nephrotic syndrome, Glomerular sclerosis, Intrauterine growth retardation, Proteinuria, Short sta... OMIM:301006
Immunodeficiency 72 With Autoinflammation
Recurrent otitis media, Hepatosplenomegaly, Increased circulating IgG level, Increased proportion... OMIM:618982
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Mild short stature, Abnormality of neutrophils, Neutrope... OMIM:169400
Blue Diaper Syndrome
Nephrocalcinosis, Hypercalcemia, Blue urine, Hyperphosphatemia, Increased body weight ORPHA:94086
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Minimal change glomerulonephritis, Nephrotic syndrome, Steroid-... OMIM:615861
Idiopathic Pulmonary Hemosiderosis
Cardiomegaly, Hepatosplenomegaly, Rheumatoid factor positive, Autoimmune antibody positivity, Glo... ORPHA:99931
Autoimmune Hypoparathyroidism
Autoimmunity, Hypocalcemic seizures, Autoimmune antibody positivity, Hypocalcemia, Hyperphosphate... ORPHA:36913
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM, Leukemia, Impaired lymphocy... OMIM:153600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Failure to thrive, Pancreatitis, Renal insuffici... ORPHA:79312
Reticuloendotheliosis, X-Linked
Anemia, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation OMIM:605735
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Pancytopenia, Recurrent otitis media, Hashimoto thyroiditis, Renal artery aneurysm, Anemia, Lymph... OMIM:615688
Glycogen Storage Disease Due To Aldolase A Deficiency
Acute kidney injury, Hyperkalemia, Elevated creatine kinase after exercise, Myoglobinuria, Growth... ORPHA:57
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgG level, Chronic hepatitis, Hepatitis, Thrombocytopenia, Sclerosing chola... OMIM:308230
Immunodeficiency 19
Lymphopenia OMIM:615617
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration, Proteinuria, Rhizomelia, Renal hypoplasia, Glomeru... OMIM:614376
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hypokalemia, Hyponatremia, Hypochloremia, Decreased glomerular filtration rate, Polyuria, Renal s... OMIM:613090
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hemoglobin, Increased hematocrit OMIM:263400
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Nephropathy OMIM:182690
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Hemolytic anemia, Hypertriglyceridemia, Renal insufficiency, Normochromic anemia, De... OMIM:245900
Hermansky-Pudlak Syndrome 11
Impaired collagen-induced platelet aggregation, Reduced platelet dense granules OMIM:619172
Nephrotic Syndrome, Type 13
Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome, Focal segmental glomerulosc... OMIM:616893
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Lipoprotein Glomerulopathy
Renal insufficiency, Glomerulopathy, Proteinuria, Mesangial hypercellularity OMIM:611771
Wiskott-Aldrich Syndrome, Autosomal Dominant
Sinusitis, Decreased circulating total IgM, Pneumonia, Increased circulating IgA level, Absent mi... OMIM:600903
Galloway-Mowat Syndrome 3
Hiatus hernia, Diffuse mesangial sclerosis, Glomerular sclerosis, Nephrotic syndrome, Intrauterin... OMIM:617729
Immunodeficiency 86
Decreased circulating IgG level, Impaired oxidative burst, Increased circulating IgM level OMIM:619549
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal tubular dysfunction, Growth delay, Hepatomegaly, Neutropenia, Anemia, Pancreatitis, Renal i... ORPHA:289916
Primary Myelofibrosis
Pancytopenia, Hepatosplenomegaly, Leukocytosis, Portal hypertension, Thrombocytosis, Splenomegaly... ORPHA:824
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hematuria, Protei... OMIM:613237
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Focal segmental glomerulosclerosis, Hematuria, Proteinuria OMIM:607832
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation OMIM:614076
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Stage 5 chronic kidney disease, Hyperalaninemia OMIM:618250
Vitamin B12-Responsive Methylmalonic Acidemia
Hepatomegaly, Anemia, Failure to thrive, Renal insufficiency, Hyperammonemia ORPHA:28
Retinitis Pigmentosa 59
Intrauterine growth retardation, Micropenis, Hepatomegaly, Failure to thrive, Renal insufficiency OMIM:613861
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level, Erythroid hypoplasia OMIM:242880
Interstitial Nephritis, Karyomegalic
Glycosuria, Nephronophthisis, Elevated circulating creatinine concentration, Hematuria, Proteinur... OMIM:614817
Hypercalcemia, Infantile, 1
Nephrocalcinosis, Nephrolithiasis, Hypercalciuria, Polyuria, Infantile hypercalcemia, Failure to ... OMIM:143880
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Nephrocalcinosis, Glomerular sclerosis, Nephrolithiasis, Proximal tubulopathy, Hypercalciuria, Ch... OMIM:310468
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Proteinuria OMIM:614455
Pseudohypoparathyroidism, Type Ib
Hypocalcemia, Obesity, Hyperphosphatemia, Low urinary cyclic AMP response to PTH administration OMIM:603233
Nephronophthisis 1
Nephronophthisis, Hyposthenuria, Polyuria, Growth delay, Tubulointerstitial fibrosis, Anemia, Ren... OMIM:256100
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Elevated circulating creatinine concentration, Small for gestational age, Ab... OMIM:616733
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Hyper-Igd Syndrome
Renal angiomyolipoma, Increased circulating IgD level, Hepatosplenomegaly, Leukocytosis, Lymphade... OMIM:260920
Dent Disease 2
Nephrocalcinosis, Proximal tubulopathy, Hypercalciuria, Chronic kidney disease, Low-molecular-wei... OMIM:300555
Hyperphosphatemia, Polyuria, And Seizures
Polyuria, Hyperphosphatemia OMIM:239350
Beta-Ketothiolase Deficiency
Leukocytosis, Thrombocytosis, Hepatomegaly, Hyperuricemia, Ketonuria, Weight loss, Hyperammonemia ORPHA:134
Adult Idiopathic Neutropenia
Monocytosis, Increased circulating IgM level, Recurrent aphthous stomatitis, Neutropenia, Monocyt... ORPHA:2688
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
Nephronophthisis
Anemia, Renal insufficiency ORPHA:655
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Caspase 8 Deficiency
Decreased T cell activation, Decreased circulating total IgM, Decreased circulating IgG level, Pn... OMIM:607271
C3 Glomerulopathy 3
Stage 5 chronic kidney disease, Glomerulonephritis, Hematuria, Renal insufficiency OMIM:614809
Complement Component 4A Deficiency
Decreased serum complement C4, Glomerulonephritis, Systemic lupus erythematosus, Reduced hemolyti... OMIM:614380
Nephrotic Syndrome, Type 22
Podocyte foot process effacement, Hypoproteinemia, Glomerular sclerosis, Nephrotic syndrome, Thic... OMIM:619155
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Glomerular sclerosis, Elevated circulating creatinine concentration, Normocytic anemia, Proteinur... ORPHA:247691
Galloway-Mowat Syndrome 10
Podocyte foot process effacement, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Pr... OMIM:619609
Immunodeficiency 76
T lymphocytopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Lymphopenia OMIM:619164
Nephrotic Syndrome, Type 6
Nephrotic syndrome, Proteinuria, Tubulointerstitial fibrosis, Hypoalbuminemia, Focal segmental gl... OMIM:614196
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Neutropenia, Prolonged bleeding time, Thrombocytopenia ORPHA:238459
Focal Segmental Glomerulosclerosis 9
Nephrotic syndrome, Focal segmental glomerulosclerosis OMIM:616220
Wiskott-Aldrich Syndrome
Recurrent otitis media, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive helper ... OMIM:301000
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Pneumonia, Thrombocytosis, Decreased circulating antibody level, Growth delay, H... OMIM:226300
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Obesity, Short stature, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cy... OMIM:612462
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Mesangial hypercellularity, Elevated circulating C-reactive protein concentration, Crescentic glo... OMIM:616414
Hyperprolinemia Type 1
Hyperprolinemia, Prolinuria, Nephropathy, Proteinuria ORPHA:419
Celiac Disease, Susceptibility To, 1
Delayed puberty, Enamel hypoplasia, Thrombocytosis, Hypocalcemia, Decreased circulating IgA level... OMIM:212750
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Decreased circulating IgG level, Recurre... OMIM:618944
Postinfectious Vasculitis
Viral hepatitis, Rheumatoid factor positive, Gastrointestinal inflammation, Proteinuria, Inflamma... ORPHA:48435
Tyrosinemia, Type I
Elevated alpha-fetoprotein, Enlarged kidney, Nephrocalcinosis, Glomerular sclerosis, Renal Fancon... OMIM:276700
Galloway-Mowat Syndrome 5
Stage 5 chronic kidney disease, Nephrotic syndrome, Glomerular sclerosis, Proteinuria OMIM:617731
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Increased circulating ferritin concentration, Abnormal circulating interleukin conc... ORPHA:158057
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hypokalemia, Nephrocalcinosis, Hepatosplenomegaly, Isothenuria, Distal renal tubular acidosis, Fa... OMIM:611590
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, 3-Methylglutaric aciduria, Leukopenia, Leukocytosis, Thrombocytosis, Lipid ac... ORPHA:20
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmunity, Leukocytosis, Intrauterine growth retardation, Agammaglobulinemia, Thrombocytosis, ... OMIM:243150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Decreased circulating IgG level, Enlarged kidney, Hepatosplenomegaly, Leukopenia, Bone marrow hyp... ORPHA:505248
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphad... ORPHA:444463
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Proteinuria, Acute kid... OMIM:618886
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies OMIM:155100
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Pediatric Systemic Lupus Erythematosus
Decreased serum complement C4, Proteinuria, Malar rash, Dark urine, Ascites, Lymphopenia, Thrombo... ORPHA:93552
Nephronophthisis 4
Nephronophthisis, Polyuria, Growth delay, Tubulointerstitial fibrosis, Anemia, Renal tubular atro... OMIM:606966
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Renal hypoplasia/aplasia, Ascites, Hepatomegaly, Anemia, Renal insufficiency, Thro... ORPHA:2123
Storage Pool Platelet Disease
Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis OMIM:612551
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Myoglobinuria OMIM:145600
Essential Thrombocythemia
Splenomegaly, Abnormality of thrombocytes, Acute leukemia, Abnormal platelet morphology, Prolonge... ORPHA:3318
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Obesity, Short stature, Hyperphosphatemia, Hypocalcemic tetany, Low urinary cy... OMIM:103580
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Failure to thrive in infancy, Cholestasis, Anemia, Hyperbilirubinemia, Hyperammonemia, Decreased ... ORPHA:247598
Aapoaiv Amyloidosis
Hyperlipidemia, Elevated circulating creatinine concentration, Glomerular sclerosis, Proteinuria,... ORPHA:439232
Immunodeficiency 75
Decreased proportion of class-switched memory B cells, Follicular hyperplasia, Hepatosplenomegaly... OMIM:619126
Paroxysmal Nocturnal Hemoglobinuria
Pancytopenia, Glycosuria, Proteinuria, Anemia, Reduced haptoglobin level, Thrombocytopenia, Leuko... ORPHA:447
Glycogen Storage Disease Ic
Hepatoblastoma, Hyperlipidemia, Hematuria, Proteinuria, Decreased glomerular filtration rate, Hep... OMIM:232240
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Hepatomegaly, Neutropenia, Anemia, Increased circulating antibody level... OMIM:615285
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hypercalcemia, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency ORPHA:2668
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Cellulitis, Monocytosis, Leukemia, Recurrent skin infections, Pneumonia, Periodonti... ORPHA:486
Lathosterolosis
Schistocytosis, Hepatosplenomegaly, Horseshoe kidney, Growth delay, Acanthocytosis, Intrahepatic ... OMIM:607330
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Schistocytosis, Hypokalemia, Leukocytosis, Elevated circulating creatinine concentration, Hyponat... ORPHA:90038
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormality of the lymph nodes OMIM:136580
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Nephrotic syndrome, Small for gestational age, Proteinuria, Macronodular cirrhosis, Decreased cir... OMIM:215250
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Thrombocytopenia, Decreased platelet glycoprotein Ib, Macrothrombocytopenia OMIM:603585
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Hepatomegaly ORPHA:294
Aicardi-Goutieres Syndrome 7
Nephrotic syndrome, Intrauterine growth retardation, Splenomegaly, Hepatomegaly, Increased circul... OMIM:615846
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Hypercalciuria, Hydroxyprolinuria, Hyperuricemia, Failure to thrive, Short stature,... OMIM:239000
Muckle-Wells Syndrome
Leukocytosis, Maculopapular exanthema, Renal amyloidosis, Elevated circulating C-reactive protein... OMIM:191900
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Increased circulating IgA level, Abdominal adhesions, Neutropeni... OMIM:616395
Glycogen Storage Disease Vi
Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia, Increased hepatic glycogen co... OMIM:232700
Galloway-Mowat Syndrome 1
Hiatus hernia, Diffuse mesangial sclerosis, Nephrotic syndrome, Intrauterine growth retardation, ... OMIM:251300
Immunodeficiency, Common Variable, 1
Decreased circulating IgG level, Recurrent otitis media, Recurrent pneumonia, Pneumonia, Decrease... OMIM:607594
Glanzmann Thrombasthenia
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation ORPHA:849
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly OMIM:183350
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Nephrotic syndrome, Failure to thrive in infancy, Proteinuria, Decreased glomerular filtration ra... ORPHA:488627
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Anemia, Increased circulating ferritin concentration ORPHA:231249
Thrombocythemia 3
Thrombocytosis OMIM:614521
Branchiootorenal Syndrome 2
Renal dysplasia, Renal insufficiency OMIM:610896
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Pseudohypoparathyroidism Type 1B
Hypocalcemic seizures, Enamel hypoplasia, Hypocalcemia, Short stature, Hyperphosphatemia, Hypocal... ORPHA:94089
Cystinosis, Nephropathic
Glycosuria, Exocrine pancreatic insufficiency, Hypokalemia, Failure to thrive in infancy, Protein... OMIM:219800
Nephronophthisis 11
Nephronophthisis, Polyuria, Growth delay, Tubular basement membrane disintegration, Anemia, Renal... OMIM:613550
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Majeed Syndrome
Leukocytosis, Flexion contracture, Congenital hypoplastic anemia, Proteinuria, Splenomegaly, Acne... ORPHA:77297
Wolcott-Rallison Syndrome
Exocrine pancreatic insufficiency, Decreased body weight, Hyponatremia, Abnormality of the liver,... ORPHA:1667
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased circulating IgG level, Decreased proportion of CD3-positive T cells, Abnormal immunoglo... ORPHA:276
Anti-Glomerular Basement Membrane Disease
Autoimmunity, Hematuria, Proteinuria, Anemia, Glomerulopathy, Renal insufficiency, Arthritis ORPHA:375
Bardet-Biedl Syndrome 10
Obesity, Renal cyst, Abnormality of the kidney, Renal insufficiency OMIM:615987
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Galactokinase Deficiency
Hypergalactosemia, Hepatosplenomegaly, Small for gestational age, Hypercholesterolemia, Hepatomeg... ORPHA:79237
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria, Decreased level of 1,5 anhydroglucitol in serum OMIM:222100
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Proteinuria, Glomerulopathy, Microscopic hematuria, Nephropathy, Renal insuff... OMIM:137950
Nephrosialidosis
Nephrotic syndrome, Bone-marrow foam cells, Nephropathy, Ascites, Renal insufficiency OMIM:256150
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Pancreatitis, Hepatomegaly, Anemia, Macrocytic anemia, Renal insufficiency, Thrombocy... ORPHA:27
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities
Stage 5 chronic kidney disease, Nephrotic syndrome, Proteinuria OMIM:614199
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Lipodystrophy, Congenital Generalized, Type 3
Lipodystrophy, Hepatic steatosis, Hepatosplenomegaly, Hypercholesterolemia, Hypocalcemia, Splenom... OMIM:612526
Lesch-Nyhan Syndrome
Hematuria, Hyperuricemia, Anemia, Renal insufficiency, Gout ORPHA:510
Severe Combined Immunodeficiency, X-Linked
Decreased circulating IgG level, T lymphocytopenia, Recurrent pneumonia, Pneumonia, Decreased cir... OMIM:300400
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Monoclonal immunoglobulin M proteinemia, Increased circulating beta-2-microglobulin level, Cryogl... ORPHA:209004
Thrombocythemia 2
Thrombocytosis OMIM:601977
Mirage Syndrome
Hypoplastic spleen, Decreased body weight, Leukopenia, Hyponatremia, Intrauterine growth retardat... OMIM:617053
Interstitial Lung And Liver Disease
Hepatic steatosis, Cholestasis, Thrombocytosis, Intraalveolar phospholipid accumulation, Hepatome... OMIM:615486
Dent Disease
Glycosuria, Nephrocalcinosis, Nephrolithiasis, Hematuria, Hyperuricosuria, Proteinuria, Hypercalc... ORPHA:1652
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Micropenis, Hypocalcemia, Severe intrauterine growth retardation, Hyperpho... OMIM:241410
Calciphylaxis
Cellulitis, Stage 5 chronic kidney disease, Hyperphosphatemia ORPHA:280062
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Immunodeficiency 7
Hypereosinophilia, Lymphadenopathy OMIM:615387
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Autoimmunity, Decreased circulating IgG level, Decreased proportion of CD3-positive... ORPHA:331206
Yellow Fever
Increased circulating interleukin 6 concentration, Acute pancreatitis, Leukocytosis, Elevated cir... ORPHA:99829
Alport Syndrome 3, Autosomal Dominant
Nephrocalcinosis, Nephrotic syndrome, Hematuria, Proteinuria, Glomerulonephritis, Thickened glome... OMIM:104200
Coenzyme Q10 Deficiency, Primary, 3
Nephrotic syndrome, Proteinuria OMIM:614652
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Spastic Paraplegia-Nephritis-Deafness Syndrome
Severe short stature, Nephropathy, Proteinuria ORPHA:2820
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Recurrent otitis media, Episcleritis, Epididymitis, Increased serum interferon... OMIM:256040
Von Willebrand Disease, Type 1
Prolonged bleeding time, Impaired platelet aggregation OMIM:193400
Hypomagnesemia 3, Renal
Renal tubular acidosis, Hypermagnesiuria, Nephrocalcinosis, Renal calcium wasting, Hematuria, Nep... OMIM:248250
Bardet-Biedl Syndrome 16
Renal agenesis, Renal cyst, Recurrent otitis media, Abnormality of the kidney, Obesity, Renal dys... OMIM:615993
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Hydronephrosis, Inguinal hernia, Camptodactyly, Thrombocytopenia, Hypo... OMIM:616737
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Sinusitis, T lymphocytopenia, Recurrent otitis media, Recurrent pneumonia, Autoimmunity, Lack of ... ORPHA:277
Galactosemia I
Hypergalactosemia, Hepatomegaly, Aminoaciduria, Increased level of galactitol in plasma, Failure ... OMIM:230400
Cockayne Syndrome Type 1
Uveitis, Contractures involving the joints of the feet, Proteinuria, Increased blood urea nitroge... ORPHA:90321
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Hepatosplenomegaly, Reduced natural killer cell activi... OMIM:608233
Babesiosis
Leukopenia, Splenomegaly, Hepatomegaly, Jaundice, Hemolytic anemia, Renal insufficiency, Thromboc... ORPHA:108
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Inc... OMIM:617514
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Myogl... ORPHA:264580
Hyperuricemic Nephropathy, Familial Juvenile, 3
Nephropathy, Renal insufficiency OMIM:614227
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Stage 5 chronic kidney disease, Decreased glomerular filtration rate, Renal insufficiency, Gout, ... OMIM:618061
Coach Syndrome 3
Renal interstitial inflammation, Nephronophthisis, Anemia, Renal tubular atrophy, Portal fibrosis... OMIM:619113
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Renal tubular acidosis, Hepatic steatosis, Cholestasis, Hypercholesterolemia, Splenomegaly, Myogl... ORPHA:370
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia, Hypoplasia of penis, Truncal obesity, Short stature, Failure to thrive ORPHA:181393
Trimethylaminuria
Recurrent pneumonia, Trimethylaminuria, Splenomegaly, Neutropenia, Anemia OMIM:602079
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephrotic syndrome, Proteinuria, Anemia, Short stature, Nephropathy ORPHA:1192
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Leukopenia, Splenomegaly, Hepatomegaly, Increased c... ORPHA:507
Kimura Disease
Eosinophilia, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Nephrocalcinosis, Decreased renal tubular phosphate excretion, Enamel hypoplasia, Increased renal... OMIM:211900
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hypercalciuria, Hypocalcemia, Hyperphosphatemia, Hypomagnesemia ORPHA:2239
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hepatosplenomegaly, Hemophagocytosis, Colitis, Sple... OMIM:613101
Nephronophthisis 2
Nephronophthisis, Enlarged kidney, Renal cortical microcysts, Elevated circulating creatinine con... OMIM:602088
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Decreased circulating IgG level, T lymphocytopenia OMIM:242870
Galactosemia Iii
Hypergalactosemia, Splenomegaly, Hepatomegaly, Jaundice, Aminoaciduria, Failure to thrive, Galact... OMIM:230350
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Renal tubular acidosis, Cirrhosis, Hypercholesterolemia, Splenomegaly, Myoglobinuria, Hepatomegal... ORPHA:79240
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-induced platelet ag... ORPHA:274
Nail-Patella-Like Renal Disease
Proteinuria, Short stature, Glomerulopathy, Microscopic hematuria, Renal insufficiency ORPHA:2613
Acute Adrenal Insufficiency
Autoimmunity, Hyponatremia, Normocytic anemia, Hypercalcemia, Increased circulating renin level, ... ORPHA:95409
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Recurrent otitis media, Recurrent pneumonia, Decreased circulati... OMIM:613502
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Myoglobinuria, Hyperbilirubinemia, Hemolytic anemia, Renal insufficiency, Reticulocytosis, Decrea... ORPHA:713
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Hypercholesterolemia, Decreased circulating ceruloplasmin concentration, Sple... OMIM:616828
Lymphoproliferative Syndrome 1
Pancytopenia, Increased circulating ferritin concentration, Autoimmunity, Decreased circulating I... OMIM:613011
Refractory Celiac Disease
Microcytic anemia, Hypoproteinemia, Normocytic anemia, Autoimmune antibody positivity, Hypocalcem... ORPHA:398063
Congenital Disorder Of Glycosylation, Type Iig
Intrauterine growth retardation, Failure to thrive in infancy, Rhizomelia, Hydronephrosis, Anemia... OMIM:611209
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Leukocytosis, Decreased glucose-6-phosphate dehydrogenase lev... OMIM:300908
Blackfan-Diamond Anemia
Renal agenesis, Leukopenia, Horseshoe kidney, Small for gestational age, Thrombocytosis, Erythroi... ORPHA:124
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, Failure to thrive in infancy, C... OMIM:618987
Bardet-Biedl Syndrome 18
Obesity, Renal insufficiency OMIM:615995
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis, Elevated circulating C-reactive protein concentration OMIM:619398
Autoerythrocyte Sensitization Syndrome
Superficial dermal perivascular inflammatory infiltrate, Hematuria, Thrombocytosis, Autoimmune th... ORPHA:324636
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Nephrotic syndrome, Glomerular sclerosis, Proteinuria, Glomerulonephritis, Growth delay, Hypospadias OMIM:619428
Agammaglobulinemia 10, Autosomal Dominant
Decreased circulating IgG level, Decreased circulating total IgM, Transient neutropenia, Agammagl... OMIM:619707
Immunodeficiency, Common Variable, 7
Decreased specific pneumococcal antibody level, Decreased circulating total IgG, Reduced isohemag... OMIM:614699
Lysosomal Acid Lipase Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Decreased HDL cholesterol concentration, Leukopenia, Per... OMIM:278000
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Recurrent pneumonia, Recurrent otitis media, Decreased circulating total IgM, Incre... OMIM:243700
Sanjad-Sakati Syndrome
Hypocalcemia, Hypoplasia of penis, Severe intrauterine growth retardation, Short stature, Abnorma... ORPHA:2323
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hematuria, Proteinuria, Cholestasis, Splenomegaly, Hepatomegaly, Nephropathy,... OMIM:105200
Legionnaires Disease
Cellulitis, Hyponatremia, Bone marrow hypocellularity, Hematuria, Proteinuria, Infectious encepha... ORPHA:549
Pearson Syndrome
Pancytopenia, Glycosuria, Hypokalemia, Lacticaciduria, Exocrine pancreatic insufficiency, Protein... ORPHA:699
Acrodysostosis 1 With Or Without Hormone Resistance
Unilateral renal agenesis, Intrauterine growth retardation, Small for gestational age, Mild postn... OMIM:101800
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Proteinuria, Chronic neutropenia, Anemia, Pancreatitis, Ulcerative colitis, Stage 5 chronic kidne... ORPHA:79259
Camos Syndrome
Nephrotic syndrome, Renal insufficiency ORPHA:83472
Asplenia, Isolated Congenital
Thrombocytosis, Howell-Jolly bodies, Asplenia OMIM:271400
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Leukocyte Adhesion Deficiency
Hemolytic-uremic syndrome, Recurrent tonsillitis, Recurrent aphthous stomatitis, Vaginitis, Recur... ORPHA:2968
Chronic Myeloid Leukemia
Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Splenomegaly, Thrombocytopenia, Abnorm... ORPHA:521
Thyrocerebrorenal Syndrome
Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Primary Sjögren Syndrome
Decreased serum complement C4, Optic neuritis, Biliary cirrhosis, Chronic hepatitis, Decreased pr... ORPHA:289390
Galloway-Mowat Syndrome 9
Hiatus hernia, Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Focal segmental glome... OMIM:619603
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hyperlipidemia, Proteinuria, Abnormality of the kidney, Increased hepatic glycogen content, Growt... ORPHA:369
Maternally-Inherited Diabetes And Deafness
Abnormal circulating lipid concentration, Renal insufficiency, Glomerulopathy, Proteinuria ORPHA:225
Senior-Loken Syndrome 6
Stage 5 chronic kidney disease OMIM:610189
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia, Hepatome... OMIM:269920
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease