Gene: Nrsn2 MGI:2684969

Gene Summary

Name:

neurensin 2

Synonyms:

LOC228777, Neurensin-2

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased blood uric acid level	Nrsn2^{em1(IMPC)Kmpc}	HOM	Early adult	1.75×10^-06
increased red blood cell distribution width	Nrsn2^{em1(IMPC)Kmpc}	HOM	Late adult	3.04×10^-06
abnormal liver morphology	Nrsn2^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
increased circulating calcium level	Nrsn2^{em1(IMPC)Kmpc}	HOM	Early adult	3.52×10^-05
abnormal lymph node morphology	Nrsn2^{em1(IMPC)Kmpc}	HOM	Late adult	0.00
increased circulating phosphate level	Nrsn2^{em1(IMPC)Kmpc}	HOM	Early adult	5.65×10^-06

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lacZ Expression

Expression data not available

Associated Images

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

Eye Morphology

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Human diseases caused by Nrsn2 mutations

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

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

Human diseases associated with Nrsn2 (0 diseases)
Human diseases predicted to be associated with Nrsn2 (543 diseases)

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

The table below shows human diseases predicted to be associated to Nrsn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:618883
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Adamantinoma	Hypercalcemia	ORPHA:55881
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Lactic Acidosis, Chronic Adult Form	Hyperuricemia	OMIM:150170
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin	Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis	OMIM:603529
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Pseudohypoparathyroidism Type 2	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94090
Glomerulocystic kidney disease with hyperuricemia and isosthenuria	Hyperuricemia	OMIM:609886
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:2239
Anemia, Congenital Dyserythropoietic, Type Ib	Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos...	OMIM:615631
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi...	OMIM:616860
Overhydrated Hereditary Stomatocytosis	Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis...	ORPHA:3203
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Lesch-Nyhan Phenotype With Normal Hgprt	Hyperuricemia	OMIM:308950
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol...	ORPHA:766
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase	Hyperuricemia	OMIM:240000
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:146200
Hypouricemia, Familial Renal, Due To Tubular Hypersecretion	Hypouricemia	OMIM:307830
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency	Hyperuricemia	ORPHA:371
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Iron-Refractory Iron Deficiency Anemia	Poikilocytosis, Hypochromic microcytic anemia, Anisocytosis	OMIM:206200
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Malignant Hyperthermia, Susceptibility To, 2	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154275
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy...	ORPHA:67044
Hypercalcemia, Infantile, 2	Hypophosphatemia, Hypercalcemia	OMIM:616963
Spondyloepiphyseal Dysplasia, Nishimura Type	Hyperphosphatemia, Hypocalcemia	OMIM:618618
Immunodeficiency 38 With Basal Ganglia Calcification	Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy	OMIM:616126
Hypocalcemia, Autosomal Dominant 1	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level	OMIM:601198
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia	ORPHA:94086
Malignant Hyperthermia, Susceptibility To, 3	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:154276
Hypouricemia, Renal, 2	Hypouricemia	OMIM:612076
Lesch-Nyhan Syndrome	Hyperuricemia	ORPHA:510
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia, Plasmacytosis	ORPHA:60026
Hypouricemia, Hypercalcinuria, And Decreased Bone Density	Hypouricemia	OMIM:242050
Beta-Thalassemia, Dominant Inclusion Body Type	Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat...	OMIM:603902
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency	Hyperlipidemia, Hyperuricemia	ORPHA:364
Anemia, Congenital Dyserythropoietic, Type Ia	Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate...	OMIM:224120
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor...	ORPHA:86841
Malignant Hyperthermia, Susceptibility To, 1	Hyperkalemia, Hyperphosphatemia, Elevated circulating creatine kinase concentration	OMIM:145600
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia	OMIM:613978
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Xanthinuria, Type Ii	Hypouricemia, Increased circulating hypoxanthine concentration, Hyperxanthinemia	OMIM:603592
Hemoglobin D Disease	Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno...	ORPHA:90039
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Abnormal reticulocyte morphology, Bone marrow hypocellularity, Elliptocytosis, Macrocytic anemia,...	OMIM:300835
Glycogen Storage Disease Ixa1	Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	OMIM:306000
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Follicular hyperplasia...	OMIM:619126
Granulomatous Slack Skin	Hypercalcemia	ORPHA:33111
Rh-Null, Amorph Type	Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis	OMIM:617970
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly	OMIM:618852
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Autoimmune th...	ORPHA:444463
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemia, Hypophosphatemic rickets	OMIM:241520
Anemia, Congenital Dyserythropoietic, Type Iv	Increased RBC distribution width, Persistence of hemoglobin F, Hepatosplenomegaly, Reduced hemato...	OMIM:613673
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1	Hyperuricemia	OMIM:162000
Hyperuricemic Nephropathy, Familial Juvenile, 3	Hyperuricemia	OMIM:614227
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly...	OMIM:300908
Hyperuricemia, Hprt-Related	Hyperuricemia	OMIM:300323
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4	Hyperuricemia	OMIM:613092
Glycogen Storage Disease V	Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232600
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:36913
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:617056
Glycogen Storage Disease Ixb	Hyperuricemia	OMIM:261750
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Cystinuria	Hyperuricemia	ORPHA:214
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:3222
Vitamin D-Dependent Rickets, Type 3	Hypophosphatemia, Hypocalcemia	OMIM:619073
Mast Cell Sarcoma	Mastocytosis, Splenomegaly, Lymphadenopathy, Hepatomegaly, Mediastinal lymphadenopathy	ORPHA:66661
Uremic Pruritus	Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Familial Isolated Hyperparathyroidism	Hypophosphatemia, Hypercalcemia	ORPHA:99879
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Burkitt Lymphoma	Hyperuricemia	ORPHA:543
Hypomagnesemia 4, Renal	Hypomagnesemia	OMIM:611718
Pseudohypoparathyroidism Type 1B	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	ORPHA:94089
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Increased blood urea nitrogen, Hyperuricemia, Hypomagnesemia	OMIM:613845
Diffuse Neonatal Hemangiomatosis	Hypercalcemia	ORPHA:2123
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hypercalcemia, Hyperphosphatemia	OMIM:617994
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemia, Hypophosphatemic rickets, Hypercalcemia	OMIM:612089
Rh Deficiency Syndrome	Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos...	ORPHA:71275
Immunodeficiency 104	Hepatomegaly, T lymphocytopenia, Splenomegaly, Lymphadenopathy	OMIM:608971
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutropenia, Ane...	OMIM:603552
Congenital Dyserythropoietic Anemia Type Iii	Elevated circulating hepatic transaminase concentration, Increased mean corpuscular volume, Abnor...	ORPHA:98870
Kimura Disease	Eosinophilia, Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Tumoral Calcinosis, Normophosphatemic, Familial	Abnormal blood phosphate concentration, Abnormal circulating calcium concentration	OMIM:610455
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hypercalcemia, Hyperphosphatemia, Calcinosis	OMIM:211900
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypokalemia, Hyponatremia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Genetic Recurrent Myoglobinuria	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Highly elevated creatine kinase	ORPHA:99845
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Juvenile Paget Disease	Hyperuricemia	ORPHA:2801
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia	OMIM:241410
Lipodystrophy, Familial Partial, Type 3	Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglyceridemia	OMIM:604367
Mild Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411536
Glycogen Storage Disease Vii	Increased total bilirubin, Hyperuricemia, Elevated circulating creatine kinase concentration	OMIM:232800
Ras-Associated Autoimmune Leukoproliferative Disorder	Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepatomegaly, Lymphocytosis, Neutropenia, Mon...	OMIM:614470
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
Morgagni-Stewart-Morel Syndrome	Hypercholesterolemia, Hyperuricemia	ORPHA:77296
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Alpha-Heavy Chain Disease	Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:100025
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Kerion Celsi	Lymphadenopathy	ORPHA:499
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Hypophosphatasia	Hypercalcemia	ORPHA:436
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration	OMIM:619658
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemia, Hypophosphatemic rickets	OMIM:193100
Distal 16P11.2 Microdeletion Syndrome	Hyperuricemia	ORPHA:261222
Dominant Beta-Thalassemia	Hepatic fibrosis, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F...	ORPHA:231226
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency	Elevated circulating creatinine concentration, Hyperuricemia	ORPHA:79233
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Fluctuating splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Rhabdoid Tumor	Hypercalcemia	ORPHA:69077
Kenny-Caffey Syndrome, Type 2	Hyperphosphatemia, Hypocalcemia, Transient hypophosphatemia	OMIM:127000
Medullary cystic kidney disease 2	Hyperuricemia	OMIM:603860
Asplenia, Isolated Congenital	Howell-Jolly bodies, Asplenia, Thrombocytosis	OMIM:271400
Orotic Aciduria	Folate-unresponsive megaloblastic anemia, Anisocytosis, Hypochromia, Poikilocytosis, Pyrimidine-r...	OMIM:258900
Immunodeficiency 52	Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell count, Decreased propor...	OMIM:617514
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Follicular hyperplasia, Decrea...	OMIM:619846
Leukocyte Adhesion Deficiency, Type Iii	Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leukocytosis, S...	OMIM:612840
Xanthinuria, Type I	Hypouricemia, Hyperxanthinemia	OMIM:278300
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hyperuricemia, Elevated circulating creatine kin...	ORPHA:94093
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Abnormal...	ORPHA:54251
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	ORPHA:557003
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Hypercalcemia, Elevated creatine kinase after exercise	ORPHA:284426
Follicular Lymphoma	Mediastinal lymphadenopathy, Splenomegaly, Abnormal peritoneum morphology, Lymphadenopathy	ORPHA:545
Hereditary Fructose Intolerance	Hypermagnesemia, Hypophosphatemia, Hyperuricemia	ORPHA:469
Immunodeficiency 76	Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia	OMIM:619164
Glucose-Galactose Malabsorption	Hypercalcemia, Hypernatremia	ORPHA:35710
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia	ORPHA:172
Combined Deficiency Of Factor V And Factor Viii	Hyperlipidemia, Hyperuricemia	ORPHA:35909
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypophosphatemia, Hypercalcemia	OMIM:600740
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion	Abnormal circulating calcium concentration	ORPHA:140286
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ...	OMIM:616959
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran...	OMIM:615513
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Thrombocytopenia, Anemia	OMIM:613101
Lipodystrophy, Congenital Generalized, Type 3	Hypercholesterolemia, Hypocalcemia, Hypertriglyceridemia	OMIM:612526
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
Erythrocytosis, Familial, 8	Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,...	OMIM:222800
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Immunodeficiency 105	Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple...	OMIM:619924
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Spherocytosis, Type 5	Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ...	OMIM:612690
Dent Disease 2	Hypophosphatemia, Elevated circulating creatine kinase concentration	OMIM:300555
Immunodeficiency 27A	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombocytosis, Anemia, Enlarged...	OMIM:209950
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica...	OMIM:618534
Autosomal Dominant Hypophosphatemic Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:89937
Pparg-Related Familial Partial Lipodystrophy	Hyperuricemia, Hypertriglyceridemia	ORPHA:79083
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy...	OMIM:616689
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Anisocytosis	OMIM:604273
Severe Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	ORPHA:411543
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Howell-Jolly bodies, Sideroblastic anemia, Pappenheimer bodies, Erythroid hyperplasia, Anisocytos...	OMIM:301310
Malignant Hyperthermia Of Anesthesia	Hyperkalemia, Hyperphosphatemia, Elevated creatine kinase after exercise	ORPHA:423
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Calcinosis	OMIM:239200
Heme Oxygenase 1 Deficiency	Cervical lymphadenopathy, Elevated circulating aspartate aminotransferase concentration, Elevated...	OMIM:614034
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Hypophosphatasia, Infantile	Elevated plasma pyrophosphate, Hypercalcemia	OMIM:241500
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:601859
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Hypouricemia, Renal, 1	Hypouricemia, Elevated circulating creatinine concentration	OMIM:220150
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Hepatomegaly, Lymphadenopathy, Thrombocy...	ORPHA:858
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Familial Hypocalciuric Hypercalcemia	Renal hypophosphatemia, Hypermagnesemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Hypophosphatemic rickets	OMIM:618913
Late-Onset Isolated Acth Deficiency	Hyponatremia, Hypercalcemia, Hyperuricemia	ORPHA:199299
Fructose-1,6-Bisphosphatase Deficiency	Neonatal hyperbilirubinemia, Hyperalaninemia, Hyperuricemia	ORPHA:348
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Cold Agglutinin Disease	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy	ORPHA:56425
Pseudohypoparathyroidism Type 1C	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79444
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatocellular necrosis, Hepatosplenomegaly, Elliptocytosis, Reticulocytosis, Leukocytosis, Aniso...	OMIM:618278
Schnitzler Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia	ORPHA:37748
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune thrombocytopenia, Absence of lymph node germinal center, Autoimmune hemolytic anemia	OMIM:608184
Klatskin Tumor	Lymphadenopathy, Cholangiocarcinoma, Hepatomegaly, Jaundice, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p...	OMIM:212050
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, Splenomegaly, Decre...	OMIM:300853
Metaphyseal Chondrodysplasia, Jansen Type	Hypophosphatemia, Hypercalcemia	OMIM:156400
Immunodeficiency 7	Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Neutropenia, Hepat...	OMIM:615387
Paternal Uniparental Disomy Of Chromosome 1	Hypercalcemia, Increased blood urea nitrogen	ORPHA:251004
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy, Hepatomegaly	OMIM:618495
Indolent Systemic Mastocytosis	Mastocytosis, Increased proportion of CD25+ mast cells, Splenomegaly, Lymphadenopathy, Hepatomega...	ORPHA:98848
Leishmaniasis	Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Splenomegaly, ...	ORPHA:507
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Acute Adrenal Insufficiency	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:95409
Autoimmune Lymphoproliferative Syndrome, Type Iia	Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Follicular hype...	OMIM:603909
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Decreased circulating carnitine concentration, Hyperammonemia, Hyperuricemia	OMIM:246450
Oculoskeletodental Syndrome	Hypercalcemia, Hypocalcemia	OMIM:618440
Primary Myelofibrosis	Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm...	ORPHA:824
Beta-Ketothiolase Deficiency	Hyperammonemia, Hyperuricemia	ORPHA:134
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, Cervical lymphadenopathy, B lymphocytopenia	OMIM:618987
Thymic Neuroendocrine Tumor	Hypercalcemia	ORPHA:97289
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hyperphosphatemia	ORPHA:93325
Lymphoproliferative Syndrome 1	Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ...	OMIM:613011
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Hypomagnesemia 3, Renal	Increased circulating beta-C-terminal telopeptide concentration, Hyperphosphatemia, Hypomagnesemi...	OMIM:248250
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:174000
Molybdenum Cofactor Deficiency, Type C	Hypouricemia, Hypertaurinemia, Hypocystinemia	OMIM:615501
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemic tetany, Hypocalcemic seizures, Hypocalcemia	ORPHA:93324
Griscelli Syndrome Type 2	Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice	ORPHA:79477
Refractory Celiac Disease	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Lymphoproliferative Syndrome, X-Linked, 1	Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal...	OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abnormal CD4:CD8 ratio, Splenomegaly, Lymphadenopathy, Neutropenia, B lymphocytopenia, Intermitte...	OMIM:150550
Gamma-Heavy Chain Disease	Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Lymphade...	ORPHA:100026
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Lymphadenopathy, Abnormal peritoneum morphology, Anemia, Mediastinal lymphadenopath...	ORPHA:83469
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Pseudohypoparathyroidism Type 1A	Hyperphosphatemia, Hypocalcemic tetany, Hypocalcemia, Calcinosis, Hypocalcemic seizures	ORPHA:79443
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Lesch-Nyhan Syndrome	Hyperuricemia	OMIM:300322
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Immunodeficiency, Common Variable, 2	Abnormal T cell count, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Hepatomegaly	OMIM:240500
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Sple...	OMIM:301078
Fanconi-Bickel Syndrome	Hypouricemia, Hyperbilirubinemia, Increased serum bile acid concentration, Hypokalemia, Hypophosp...	OMIM:227810
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Immunodeficiency, Common Variable, 1	Abnormal T cell count, Splenomegaly, Decreased proportion of class-switched memory B cells, Lymph...	OMIM:607594
Immune Dysregulation, Autoimmunity, And Autoinflammation	Anemia, Inguinal lymphadenopathy, Cervical lymphadenopathy	OMIM:620514
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Hypophosphatem...	ORPHA:157215
3-Hydroxy-3-Methylglutaric Aciduria	Hyperammonemia, Hyperuricemia	ORPHA:20
Immunodeficiency 109 With Lymphoproliferation	Pancytopenia, Absent circulating B cells, Splenomegaly, Generalized lymphadenopathy	OMIM:620282
Addison Disease	Hyperuricemia, Hyponatremia, Hyperkalemia, Hypercalcemia, Increased circulating renin level	ORPHA:85138
Juvenile Nephropathic Cystinosis	Hypouricemia, Elevated circulating creatinine concentration, Hypocalcemic tetany, Hypocalcemia, H...	ORPHA:411634
Glycogen Storage Disease Ia	Hyperlipidemia, Hyperuricemia	OMIM:232200
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Fructose Intolerance, Hereditary	Hypophosphatemia, Hyperbilirubinemia, Hyperuricemia, Bicarbonaturia	OMIM:229600
Classic Mycosis Fungoides	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:2584
Pheochromocytoma	Hypercalcemia	OMIM:171300
Colchicine Poisoning	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hyponatremia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Monosomy 13Q34	Hypercalcemia	ORPHA:96168
Lymphoproliferative Syndrome 2	Aplastic anemia, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Lymphadenopath...	OMIM:615122
Omenn Syndrome	Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadenopathy, Thro...	OMIM:603554
Macrophage Activation Syndrome	Hemophagocytosis, Hepatitis, Decreased liver function, Elevated circulating aspartate aminotransf...	ORPHA:158061
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Elliptocytosis 3	Intermittent jaundice, Pyropoikilocytosis, Elliptocytosis, Decreased mean corpuscular volume, Chr...	OMIM:617948
Multiple Myeloma	Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia	ORPHA:29073
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypophosphatemia, Hypocalcemia	OMIM:600081
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Leukocytosis, Splenomegaly, Lymphadenopathy, Thrombo...	ORPHA:3226
Hereditary Renal Hypouricemia	Hypouricemia, Increased blood urea nitrogen	ORPHA:94088
Gaisböck Syndrome	Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hyperproteinemia, Increased circulatin...	ORPHA:90041
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Activated Pi3K-Delta Syndrome	Recurrent tonsillitis, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Hepatomegaly	ORPHA:397596
Cinca Syndrome	Hepatosplenomegaly, Leukocytosis, Eosinophilia, Lymphadenopathy, Anemia	OMIM:607115
Niemann-Pick Disease, Type A	Sea-blue histiocytosis, Microcytic anemia, Elevated circulating aspartate aminotransferase concen...	OMIM:257200
Aggressive Systemic Mastocytosis	Decreased liver function, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increase...	ORPHA:98850
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Exercise-Induced Malignant Hyperthermia	Hyperkalemia, Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Tularemia	Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Lymphadenopat...	ORPHA:3392
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Lymphadenopathy, Splenomegaly, Autoimmune hemolytic anemia	OMIM:619183
Glycogen Storage Disease Ib	Hyperlipidemia, Hyperuricemia	OMIM:232220
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Immunodeficiency 54	Hepatomegaly, Reduced natural killer cell count, Splenomegaly, Lymphadenopathy	OMIM:609981
Hereditary Xanthinuria	Hypouricemia, Hyperxanthinemia	ORPHA:3467
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, Lymphopenia, B lymphocytopenia, Absent tonsils, T lymphocy...	ORPHA:277
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Familial Papillary Or Follicular Thyroid Carcinoma	Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:241530
Hemorrhagic Fever-Renal Syndrome	Elevated circulating creatinine concentration, Hyperkalemia, Hyperphosphatemia	ORPHA:340
Classic Hodgkin Lymphoma	Hepatomegaly, Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Caspase 8 Deficiency	Decreased CD4:CD8 ratio, Splenomegaly, Lymphadenopathy	OMIM:607271
Familial Cold Autoinflammatory Syndrome 2	Leukocytosis, Splenomegaly, Lymphadenopathy	OMIM:611762
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Decreased proportion of CD8-positive T cells, Hepa...	ORPHA:911
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Mediasti...	OMIM:619802
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	OMIM:264700
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Hepatitis, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemi...	OMIM:304790
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Hypocalcemic Vitamin D-Resistant Rickets	Hypophosphatemia, Hypocalcemia	ORPHA:93160
Phosphoribosylpyrophosphate Synthetase Superactivity	Hyperuricemia	OMIM:300661
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency	Increased circulating free fatty acid level, Hypophosphatemia	OMIM:605911
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Tafro Syndrome	Hepatosplenomegaly, Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, ...	ORPHA:457077
Alstrom Syndrome	Elevated hemoglobin A1c, Decreased HDL cholesterol concentration, Hyperuricemia, Hypertriglycerid...	OMIM:203800
Griscelli Syndrome	Bone marrow hypocellularity, Hepatitis, Leukopenia, Splenomegaly, Lymphadenopathy, Thrombocytopen...	ORPHA:381
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Acute pancreatitis, Recurrent tonsillitis, Lymphadenitis, Lymphopenia, Hepatosplenomegaly, Impair...	OMIM:618935
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypomagnesemia, Hypokalemia, Hypercalcemia, H...	OMIM:601678
Familial Osteodysplasia, Anderson Type	Hyperuricemia	ORPHA:2769
Fibrous Dysplasia Of Bone	Hypophosphatemia, Hypercalcemia	ORPHA:249
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:175500
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Hypophosphatemic Rickets, X-Linked Dominant	Abnormal circulating calcium concentration, Hypophosphatemia, Hypophosphatemic rickets	OMIM:307800
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating inosine concentration, Increased circulating guanosine concen...	OMIM:613179
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Oncogenic Osteomalacia	Hypophosphatemia, Hypocalcemia	ORPHA:352540
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Acute he...	OMIM:619644
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Splenom...	OMIM:602450
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Glycogen Storage Disease Ic	Hyperlipidemia, Hyperuricemia	OMIM:232240
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Aregenerative Anemia	Bone marrow hypocellularity, Pancytopenia, Decreased proportion of CD4-positive helper T cells, A...	ORPHA:101096
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Omenn Syndrome	Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eosinophilia, Lymphaden...	ORPHA:39041
Lethal Ataxia With Deafness And Optic Atrophy	Hypouricemia	ORPHA:1187
Castleman Disease	Follicular hyperplasia, Generalized lymphadenopathy, Lymphadenopathy, Thrombocytopenia, Anemia, J...	ORPHA:160
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypercalcemia, Hypertriglyceridemia	ORPHA:369837
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hyperlipidemia, Hypercholesterolemia, Hyperuricemia, Hypertriglyceridemia	ORPHA:79259
Primary Fanconi Renotubular Syndrome	Hypouricemia, Decreased circulating carnitine concentration, Hypophosphatemic rickets, Hypokalemi...	ORPHA:3337
Combined Oxidative Phosphorylation Deficiency 55	Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp...	OMIM:619743
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Immunodeficiency With Hyper-Igm, Type 1	Hepatitis, Absence of lymph node germinal center, Chronic hepatitis, Splenomegaly, Sclerosing cho...	OMIM:308230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Autoimmune...	OMIM:616100
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia	ORPHA:760
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Cervical lymphadenopathy, Leukopenia, Ly...	ORPHA:83313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Lymphadenitis, Lymphopenia, Hepatosplenomeg...	OMIM:618986
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Hyperuricemia	ORPHA:93111
Hyperparathyroidism-Jaw Tumor Syndrome	Hypophosphatemia, Hypercalcemia	ORPHA:99880
Alport Syndrome 3A, Autosomal Dominant	Hypophosphatemia, Azotemia	OMIM:104200
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Elevated circulating hepatic transaminase concentration, ...	ORPHA:79124
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, Decreased proporti...	ORPHA:169154
Parathyroid Carcinoma	Hypophosphatemia, Hypercalcemia	ORPHA:143
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto...	ORPHA:540
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemia, Hypophosphatemic rickets	OMIM:300554
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Lymphocytosis, Lymphadenopathy, Hepatomegaly...	ORPHA:79456
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Cyclic Neutropenia	Recurrent tonsillitis, Cervical lymphadenopathy, Lymphopenia, Cyclic neutropenia, Peritonitis, Ly...	ORPHA:2686
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:85414
Renal Cysts And Diabetes Syndrome	Elevated circulating creatinine concentration, Hyperuricemia	OMIM:137920
Cinca Syndrome	Leukocytosis, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Abnormality of neutrophils, Ab...	ORPHA:1451
Sézary Syndrome	Hepatomegaly, Abnormal lymphocyte morphology, Splenomegaly, Lymphadenopathy	ORPHA:3162
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Lymphadenopathy, Thrombocytopenia, Hepatomegaly, Hemolytic anemia	ORPHA:169090
Felty Syndrome	Bone marrow hypocellularity, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, Lymphade...	ORPHA:47612
Adult-Onset Still Disease	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ...	ORPHA:829
Generalized Pustular Psoriasis	Elevated circulating C-reactive protein concentration, Hyponatremia, Hypocalcemia, Hypoalbuminemia	ORPHA:247353
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Increased circulating free fatty acid level, Hyperammonemia, Hypocalcemia, Elevated circulating c...	ORPHA:26793
Diarrhea 10, Protein-Losing Enteropathy Type	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Hyponatremia, Hypertriglyceridemia	OMIM:618183
Primary Intestinal Lymphangiectasia	Hypoalbuminemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia	ORPHA:90362
Pancreatoblastoma	Pancreatic calcification, Jaundice, Abnormal lymph node morphology	ORPHA:677
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic...	ORPHA:98849
Acute Monoblastic/Monocytic Leukemia	Hypochromic anemia, Acute monocytic leukemia, Cervical lymphadenopathy, Leukocytosis, Lymphocytos...	ORPHA:514
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hypophosphatemia, Hypocalcemia	ORPHA:289157
Proteasome-Associated Autoinflammatory Syndrome 3	Elevated circulating hepatic transaminase concentration, Lymphopenia, Splenomegaly, Hepatomegaly,...	OMIM:617591
Immunodeficiency 10	Splenomegaly, Autoimmune hemolytic anemia, Abnormal lymphocyte count, Lymphadenopathy, Hepatomega...	OMIM:612783
Congenital Erythropoietic Porphyria	Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, Thrombocytopenia,...	ORPHA:79277
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619750
X-Linked Agammaglobulinemia	Hypocalcemia	ORPHA:47
Roifman Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Lymphadenopathy	OMIM:616651
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Cholest...	OMIM:615895
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Cockayne Syndrome	Hyperuricemia	ORPHA:191
Hemophagocytic Lymphohistiocytosis, Familial, 2	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Leukopenia, Hepatosple...	OMIM:603553
Fanconi-Bickel Syndrome	Hypophosphatemia, Hypertriglyceridemia	ORPHA:2088
Vipoma	Hypokalemia, Hypercalcemia	ORPHA:97282
Chediak-Higashi Syndrome	Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den...	OMIM:214500
Gracile Bone Dysplasia	Hypocalcemia	OMIM:602361
Kaposi Sarcoma	Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy	ORPHA:33276
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Pancreatic adenocarc...	ORPHA:1333
Cholera	Hypokalemia, Abnormal blood ion concentration, Hyponatremia, Hypocalcemia	ORPHA:173
Ppoma	Hypercalcemia	ORPHA:97278
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hemophagocytosis, Leukopenia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Anem...	OMIM:267700
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased proportion of CD4+CD25+ regulatory T cells, Hepatosplenomegaly, Decreased CD4:CD8 ratio...	OMIM:606367
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Lymphadenopathy, Thrombocytopenia, B lymphocytopenia, Inc...	OMIM:618048
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233710
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphopenia, Abnormality of the liver, S...	ORPHA:1572
Somatostatinoma	Hypercalcemia	ORPHA:97283
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Mevalonic Aciduria	Elevated circulating hepatic transaminase concentration, Fluctuating splenomegaly, Hepatosplenome...	OMIM:610377
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Molybdenum Cofactor Deficiency, Type B	Hypouricemia	OMIM:252160
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:233690
Grfoma	Hypercalcemia	ORPHA:97261
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Cholestatic liver disease, Polysplenia, Exocrine pancreatic insufficiency, Sple...	OMIM:619418
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Leukocytosis, Eosinophilia,...	ORPHA:293173
Molybdenum Cofactor Deficiency, Type A	Hypouricemia	OMIM:252150
Dent Disease 1	Hypophosphatemia	OMIM:300009
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Generalized lymphadenopathy, Decreased p...	OMIM:614700
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Abnormal lymph node morphology, Hepatosplenomegaly, Hepatomegaly, Lymph...	ORPHA:85450
Glucagonoma	Hypercalcemia	ORPHA:97280
Multiple Endocrine Neoplasia Type 4	Hypercalcemia	ORPHA:276152
Multiple Endocrine Neoplasia Type 2	Hypercalcemia	ORPHA:653
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:3386
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia	OMIM:259700
Gallbladder Neuroendocrine Tumor	Biliary tract neoplasm, Chronic noninfectious lymphadenopathy, Cholecystitis, Intermittent jaundi...	ORPHA:100086
Lig4 Syndrome	Acute leukemia, Pancytopenia, Leukocytosis, Lymphadenopathy, Hepatomegaly	ORPHA:99812
Acute Promyelocytic Leukemia	Pancytopenia, Leukopenia, Leukocytosis, Lymphadenopathy, Neutropenia, Thrombocytopenia, Anemia	ORPHA:520
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemic tetany, Hypocalcemia, Hypomagnesemia	ORPHA:73224
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Hypomagnesemia, Transient hypophosphatemia, Hyperkalemia, Mildly elevated c...	ORPHA:79102
Wilson Disease	Hypouricemia, Hypoalbuminemia, Hyperbilirubinemia, Increased circulating copper concentration, De...	OMIM:277900
Double Outlet Right Ventricle	Hypocalcemia	ORPHA:3426
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypoproteinemia, Hypocalcemia	OMIM:235255
Bacterial Toxic-Shock Syndrome	Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin...	ORPHA:36234
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hypokalemia, Hyponatremia, Hypocalcemia, Calcinosis	OMIM:617913
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Legionnaires Disease	Bone marrow hypocellularity, Hepatitis, Lymphopenia, Splenomegaly, Pancreatitis, Lymphadenopathy,...	ORPHA:549
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Abnormal circulating B-type natriuretic pe...	ORPHA:97214
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Mixed Connective Tissue Disease	Mediastinal lymphadenopathy, Leukopenia, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic a...	ORPHA:809
Kikuchi-Fujimoto Disease	Elevated circulating hepatic transaminase concentration, Abnormal lymph node morphology, Cervical...	ORPHA:50918
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Eosino...	ORPHA:139402
Q Fever	Elevated circulating hepatic transaminase concentration, Hepatitis, Hepatosplenomegaly, Abnormali...	ORPHA:781
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Hypoalbuminemia, Hypomagnesemia, Hypocalcemia, Decreased circulating prealbumin concentration, Ab...	ORPHA:37042
Carcinoid Syndrome	Hepatic necrosis, Chronic noninfectious lymphadenopathy, Elevated circulating hepatic transaminas...	ORPHA:100093
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypoproteinemia, Hypocalcemia	ORPHA:1655
Cystinosis, Nephropathic	Decreased circulating carnitine concentration, Hypomagnesemia, Hypophosphatemic rickets, Hypokale...	OMIM:219800
Multiple Endocrine Neoplasia Type 1	Hypercalcemia	ORPHA:652
Autoimmune Lymphoproliferative Syndrome	Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport...	ORPHA:3261
Farber Disease	Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Hepat...	ORPHA:333
Primary Hepatic Neuroendocrine Carcinoma	Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymphadenopathy, H...	ORPHA:100085
Scrub Typhus	Splenomegaly, Lymphadenopathy	ORPHA:83317
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased T cell count, Increased B cell count, Absent peripheral lymph nodes in presence of infe...	ORPHA:98813
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Peritonitis, Lymphadenopathy	ORPHA:343
Celiac Disease, Susceptibility To, 1	Hypocalcemia	OMIM:212750
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis	OMIM:142680
Williams Syndrome	Hypercalcemia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase con...	ORPHA:904
Sting-Associated Vasculopathy, Infantile-Onset	Lymphopenia, Leukopenia, Follicular hyperplasia, Thrombocytosis, Anemia, Paratracheal lymphadenop...	OMIM:615934
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Lymphopenia...	OMIM:615688
Raine Syndrome	Hypophosphatemia	OMIM:259775
Pearson Syndrome	Hypomagnesemia, Hypocalcemia, Hypokalemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:36412
Graft Versus Host Disease	Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Hepatosplenomegaly, Ly...	ORPHA:39812
Osteopetrosis, Autosomal Recessive 5	Hyperbilirubinemia, Hypocalcemia	OMIM:259720
Waldenström Macroglobulinemia	Normocytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy, Leukemia, Abnormality of neutrophils	ORPHA:33226
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Hyperammonemia, Hyperglutaminemia, Low plasma citrulline, Elevated circulating uracil concentrati...	OMIM:311250
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Impaired oxidative burst, Splenomegaly, Granulomatosis, Lymphadenopathy, Hepatomeg...	OMIM:306400
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Increased proportion of CD4-positive T cells, Leukocytosis, Lymphadenopathy, Neutrophilia	OMIM:617099
Chédiak-Higashi Syndrome	Abnormality of neutrophil physiology, Elevated circulating hepatic transaminase concentration, He...	ORPHA:167
Ethylene Glycol Poisoning	Hyperkalemia, Hypocalcemia	ORPHA:31826
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Co...	ORPHA:83471
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Hyper-Igd Syndrome	Lymphadenitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Lymphadenopathy, Neutrophilia	OMIM:260920
Pediatric Systemic Lupus Erythematosus	Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Lymphadenopathy, Thrombocytopenia	ORPHA:93552
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hilar lymph node enlargement, Cholestasis, Leukocytosis, Hepatomegaly, Mediastinal lymphadenopathy	OMIM:620233
Sarcoidosis	Hypercalcemia	ORPHA:797
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemic seizures, Hypocalcemia	ORPHA:2237
Acute Interstitial Pneumonia	Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Autosomal Recessive Malignant Osteopetrosis	Hypophosphatemia, Hypocalcemia	ORPHA:667
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent natural killer cells, Lymphopenia, Absent peripheral lymph nodes in presence of infection,...	OMIM:600802
Tangier Disease	Hepatosplenomegaly, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocyto...	ORPHA:31150
Poems Syndrome	Polycythemia, Splenomegaly, Lymphadenopathy, Thrombocytosis, Hepatomegaly	ORPHA:2905
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Cervical lymphadenopathy, Lymphocytosis, Lymphadenopathy, Thrombo...	OMIM:617718
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Hypoammonemia	ORPHA:534
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Congenital Syphilis	Extramedullary hematopoiesis, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Lymp...	ORPHA:499009
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Immunodeficiency 55	Lymphopenia, Absent natural killer cells, Lymphadenopathy, Neutropenia	OMIM:617827
Immunodeficiency 31C	Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Impaired lymphocyte transformation with p...	OMIM:614162
Autosomal Recessive Hypophosphatemic Rickets	Renal hypophosphatemia, Hypophosphatemic rickets	ORPHA:289176
Histiocytosis-Lymphadenopathy Plus Syndrome	Pancreatic hypoplasia, Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopath...	OMIM:602782
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hyperbilirubinemia, Hypocalcemia	ORPHA:163979
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Cervical lymphadenopath...	ORPHA:3260
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
Neuroendocrine Tumor Of Stomach	Hepatic failure, Elevated circulating hepatic transaminase concentration, Chronic noninfectious l...	ORPHA:100075
Immunodeficiency 87 And Autoimmunity	Hepatic failure, Cholestasis, Lymphopenia, Decreased CD4:CD8 ratio, Elevated circulating aspartat...	OMIM:619573
Ileal Neuroendocrine Tumor	Hepatic failure, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia,...	ORPHA:100078

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