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Gene: Btbd2 MGI:1933831

Gene Summary

Name:

BTB domain containing 2

Synonyms:

4930512K17Rik, 2610037C03Rik

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 startle reflex	Btbd2^em1(IMPC)Mbp	HOM	Early adult	2.10×10^-05
increased mean corpuscular volume	Btbd2^em1(IMPC)Mbp	HOM	Early adult	3.31×10^-05
increased circulating calcium level	Btbd2^em1(IMPC)Mbp	HOM	Early adult	9.13×10^-05
abnormal liver morphology	Btbd2^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged lymph nodes	Btbd2^em1(IMPC)Mbp	HOM	Early adult	0.00
limb grasping	Btbd2^em1(IMPC)Mbp	HOM	Early adult	3.21×10^-05
small liver	Btbd2^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal lymph node morphology	Btbd2^em1(IMPC)Mbp	HOM	Early adult	0.00

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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.

X-ray

XRay Images Whole Body Dorso Ventral

66 Images

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X-ray

XRay Images Whole Body Lateral Orientation

22 Images

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Human diseases caused by Btbd2 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 Btbd2 (0 diseases)
Human diseases predicted to be associated with Btbd2 (496 diseases)

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

The table below shows human diseases predicted to be associated to Btbd2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Hepatic Venoocclusive Disease With Immunodeficiency	Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Hypochromia, Sideroblastic anemia, Decreased mean corpuscular volume, Elevated transferri...	OMIM:205950
Dehydrated Hereditary Stomatocytosis	Cholelithiasis, Macrocytic anemia, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemi...	OMIM:616860
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Jaundice, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Cholestasis, ...	OMIM:619658
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Hyperbilirubinemia, Reticulocytosis, P...	OMIM:185000
Alpha-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Splenomegaly	ORPHA:100025
Rhabdoid Tumor	Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, A...	ORPHA:2133
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Elevated hepatic iron concentration, Siderobla...	OMIM:615234
Intrinsic Factor Deficiency	Reduced haptoglobin level, Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic...	OMIM:261000
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Hypochromia, Elevated hepatic iron concentration, Increased circulating iron concentratio...	OMIM:206100
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Congenital Dyserythropoietic Anemia Type Iii	Increased total iron binding capacity, Elevated circulating hepatic transaminase concentration, A...	ORPHA:98870
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hepatomegaly, Hypercalcemia, Anemia	ORPHA:2123
Progressive Familial Intrahepatic Cholestasis	Jaundice, Hepatomegaly, Hypocalcemia, Cholestasis, Splenomegaly	ORPHA:172
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Sickle Cell Anemia	Jaundice, Chronic hemolytic anemia, Iron deficiency anemia, Cholelithiasis, Increased mean corpus...	ORPHA:232
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Thromboc...	OMIM:603552
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy, Decreased proportion of class-switch...	OMIM:619126
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut...	OMIM:616216
Bone Marrow Failure Syndrome 6	Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bone marrow hypocellulari...	OMIM:618849
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Erythroid hyperplasia, Anemia, Increased mean corpuscular volume, Sider...	OMIM:617021
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Familial Pseudohyperkalemia	Hyperkalemia, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Stom...	ORPHA:90044
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hepatomegaly, Hypercholesterolemia, Hypocalcemia, Hepatosplenomegaly, Splen...	OMIM:612526
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red cell adenosine deami...	OMIM:300946
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Diamond-Blackfan Anemia 3	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Diamond-Blackfan Anemia 8	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612563
Bone Marrow Failure And Diabetes Mellitus Syndrome	Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia	OMIM:620044
Beta-Thalassemia Intermedia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Cho...	ORPHA:231222
Adamantinoma	Hypercalcemia	ORPHA:55881
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anisopoikilocytosis, Elevated circulating hepatic transaminase concentration, Anemia, Decreased t...	ORPHA:300298
Methylcobalamin Deficiency Type Cble	Macrocytic anemia, Hyperhomocystinemia, Pancytopenia, Increased mean corpuscular volume, Hypometh...	ORPHA:2169
Burkitt Lymphoma	Abnormal lymph node morphology, Hyperuricemia, Decreased proportion of CD4-positive helper T cell...	ORPHA:543
Thymic Neuroendocrine Tumor	Mediastinal lymphadenopathy, Pancreatic islet cell adenoma, Neoplasm of the thymus, Chronic nonin...	ORPHA:97289
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Methylmalonic acidemia, Hyperhomocystinemia, Increased mean corpuscular volume, Megaloblastic ane...	OMIM:277410
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia, Anemia	ORPHA:2668
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
Majeed Syndrome	Anemia of inadequate production, Hepatosplenomegaly, Decreased mean corpuscular volume, Erythroid...	OMIM:609628
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hepatomegaly, Anemia, Hypercalcemia, Hypophosphatemia, Splenomegaly	OMIM:239200
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hypokalemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hemolytic an...	OMIM:611590
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Anemia, Lymphadenopathy, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly...	OMIM:613101
Blue Diaper Syndrome	Hypercalcemia, Hyperphosphatemia, Elevated circulating hepatic transaminase concentration	ORPHA:94086
Pseudohypoparathyroidism Type 2	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia	ORPHA:94090
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Kerion Celsi	Lymphadenopathy	ORPHA:499
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated...	OMIM:615559
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Liver abscess, Elevated circulating hepatic transaminase concentration, Abnormal lymph node morph...	ORPHA:54251
Hypophosphatasia	Hypercalcemia, Anemia	ORPHA:436
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Refractory Celiac Disease	Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi...	ORPHA:398063
Oculoskeletodental Syndrome	Hypocalcemia, Hepatomegaly, Hypercalcemia, Splenomegaly	OMIM:618440
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularit...	OMIM:127550
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia, T lymphocytopenia	DECIPHER:16
Heme Oxygenase 1 Deficiency	Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Thrombocyto...	OMIM:614034
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Diamond-Blackfan Anemia 6	Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia	OMIM:612561
Non-Functioning Paraganglioma	Tremor, Hypercalcemia	ORPHA:94080
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Anemia, Abnormal lymph node morphology, Leukocytosis, Hepatosplenomegaly, Splenomeg...	OMIM:612840
Immunodeficiency 27A	Anemia, Lymphadenopathy, Thrombocytosis, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Hypoalbu...	OMIM:209950
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Abnormality of iron homeostasis, Hypochromic microcytic anemia, Decreased me...	ORPHA:231226
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia, Pancreatic adenocarcinoma, Recurrent pancreatitis	OMIM:145001
Beta-Thalassemia Major	Anisopoikilocytosis, Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypochro...	ORPHA:231214
Immunodeficiency 103, Susceptibility To Fungal Infections	Lymphadenopathy, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells,...	OMIM:212050
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Elliptocytosis 3	Pyropoikilocytosis, Chronic hemolytic anemia, Intermittent jaundice, Elliptocytosis, Decreased me...	OMIM:617948
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive protein c...	ORPHA:160
Leishmaniasis	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, P...	ORPHA:507
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:545
Congenital Toxoplasmosis	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hepat...	ORPHA:858
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia, Elevated circulating hepatic transaminase...	ORPHA:284426
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reacti...	OMIM:613011
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ...	ORPHA:86839
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Multiple Myeloma	Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea...	ORPHA:29073
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Neutropenia, Lymphadenopathy, Elevated circulating C-reactive prot...	OMIM:308240
Fish-Eye Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Decreased HDL cholesterol concentration	ORPHA:79292
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Hepatosplenomegaly, Sp...	OMIM:618534
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr...	OMIM:619924
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly	ORPHA:37748
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hyperlipidemia, Splenome...	ORPHA:79477
Macrophage Activation Syndrome	Decreased liver function, Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated c...	ORPHA:158061
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased B cell count, Hepatosplenomegaly, Lymphadenopathy, Increased proportion of memory T cells	OMIM:618982
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Hypophosphatasia, Infantile	Anemia, Hypercalcemia, Elevated plasma pyrophosphate	OMIM:241500
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
X-Linked Agammaglobulinemia	Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt...	ORPHA:47
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Niemann-Pick Disease, Type A	Hepatomegaly, Sea-blue histiocytosis, Lymphadenopathy, Bone-marrow foam cells, Athetosis, Elevate...	OMIM:257200
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, B lymphocytopenia, Lymphopenia, Eosinophilia, Lymph node hypoplasia, Splenomegaly, ...	OMIM:602450
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatomegaly, Chronic hemolytic anemia, Microvesicular hepatic steatosis, Leukocytosis, Unconjuga...	OMIM:618278
Infantile Myofibromatosis	Neoplasm of the pancreas, Hypercalcemia	ORPHA:2591
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Primary Myelofibrosis	Hepatomegaly, Anemia, Lymphadenopathy, Thrombocytosis, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Iron deficiency anemia, Neutropenia i...	OMIM:603909
Kimura Disease	Follicular hyperplasia, Eosinophilia, Lymphadenopathy	ORPHA:482
Hypocalciuric Hypercalcemia, Familial, Type I	Hypercalcemia, Hypermagnesemia, Pancreatitis	OMIM:145980
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Macrocytic anemia, Hyperuricemia, Hyponatremia, Hypercalcemia, Eosinophilia, H...	ORPHA:199299
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Hypocalcemia, Decreased proportion of C...	ORPHA:90362
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Hepatomegaly, Lymphadeno...	OMIM:267700
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypercalcemia, Hypermagnesemia, Pancreatitis	OMIM:145981
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Lymphopenia, Decreased pr...	OMIM:619846
Immunodeficiency 109 With Lymphoproliferation	Hypertriglyceridemia, Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating...	OMIM:620282
Immunodeficiency, Common Variable, 2	Hepatomegaly, Lymphadenopathy, Abnormal T cell count, Splenomegaly, Follicular hyperplasia	OMIM:240500
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Hypouricemia, Neutropenia in presence of anti-neutropil antibodies, ...	OMIM:613179
Spinal Cord Injury	Allodynia, Hypercalcemia	ORPHA:90058
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Classic Mycosis Fungoides	Lymphadenopathy, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly	ORPHA:2584
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Cinca Syndrome	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Hep...	OMIM:607115
Sézary Syndrome	Hepatomegaly, Lymphadenopathy, Tremor, Abnormal lymphocyte morphology, Splenomegaly	ORPHA:3162
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Leukocytosis, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Diamond-Blackfan Anemia 7	Increased mean corpuscular volume, Macrocytic anemia, Neutropenia	OMIM:612562
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym...	OMIM:603554
Desmoplastic Small Round Cell Tumor	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Neoplasm of the pancreas, Abnormal pe...	ORPHA:83469
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Anemia, Cervical lymphadenopathy, Inguinal...	OMIM:620514
Vipoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Hypokalemia, Normochromic anemi...	ORPHA:97282
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Decreased circulat...	OMIM:616959
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypercalcemia, Hypermagnesemia, Pancreatitis, Hypophosphatemia	OMIM:600740
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Pancytopenia, Hepatosplenomegal...	OMIM:615122
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia, Episodic hemolytic anemia	ORPHA:251004
Activated Pi3K-Delta Syndrome	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Splenomegaly	ORPHA:397596
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hypertriglyceridemia, Jaundice, Elevated circulating hepatic transaminase concentration, Lymphade...	OMIM:603553
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Osteopetrosis, Autosomal Recessive 1	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly	OMIM:259700
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Immunodeficiency 97 With Autoinflammation	Hypertriglyceridemia, Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Lymphadenopathy, ...	OMIM:619802
Sporadic Pheochromocytoma/Secreting Paraganglioma	Tremor, Hypercalcemia	ORPHA:276621
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Absence of lymph node germinal center, Autoimmune thrombocytopenia	OMIM:608184
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, B lymphocytopenia, ...	OMIM:301078
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Griscelli Syndrome	Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hy...	ORPHA:381
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Grfoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97261
Monosomy 13Q34	Hypercalcemia, Hepatic steatosis	ORPHA:96168
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Klatskin Tumor	Jaundice, Hepatomegaly, Lymphadenopathy, Cholangiocarcinoma, Extrahepatic cholestasis	ORPHA:99978
Immunodeficiency 54	Lymphadenopathy, Hepatomegaly, Reduced natural killer cell count, Splenomegaly	OMIM:609981
Somatostatinoma	Intrahepatic cholestasis, Hepatomegaly, Neoplasm of the pancreas, Gallbladder dysfunction, Hypoch...	ORPHA:97283
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Elevated ...	OMIM:619644
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Jaundice, Hepatomegaly, Decreased proportion of CD3-positive T cells, Decreased proportion of nai...	ORPHA:276
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:391
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Immunodeficiency 96	Increased mean corpuscular volume, Increased proportion of gamma-delta T cells	OMIM:619774
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tremor, Hypercalcemia	ORPHA:476126
Autoimmune Hypoparathyroidism	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia	ORPHA:36913
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:457077
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center, Neutropenia	OMIM:606843
Familial Hemophagocytic Lymphohistiocytosis	Decreased liver function, Cholestatic liver disease, Hypertriglyceridemia, Jaundice, Elevated cir...	ORPHA:540
Aggressive Systemic Mastocytosis	Decreased liver function, Anemia, Lymphadenopathy, Increased proportion of CD25+ mast cells, Panc...	ORPHA:98850
Glucagonoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Normochromic anemia, Acanthocyt...	ORPHA:97280
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Hepatomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Ppoma	Intrahepatic cholestasis, Neoplasm of the pancreas, Hepatomegaly, Cholelithiasis, Intermittent ja...	ORPHA:97278
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Abnormally low T cell receptor excision circle level, B lymphocytopenia, Cervical lymphadenopathy	OMIM:618987
Tularemia	Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr...	ORPHA:3392
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Eleva...	OMIM:619750
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Increased circulating ferritin concentration, Hepatomeg...	ORPHA:829
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Addison Disease	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:85138
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Abnormal lymph node morphology, Lymphadenopathy, Decreased proportio...	ORPHA:911
Pseudomyxoma Peritonei	Lymphadenopathy, Abnormal peritoneum morphology	ORPHA:26790
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Splenomegaly, Pulmonary...	OMIM:235255
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Cinca Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu...	ORPHA:1451
Hereditary Pheochromocytoma-Paraganglioma	Tremor, Hypercalcemia	ORPHA:29072
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Hypocalcemic seizures, Pancreatitis, Hypercalcemia, Renal hypophosphatemia	ORPHA:405
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Osteopetrosis, Autosomal Recessive 5	Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, Hyperbilirubinem...	OMIM:259720
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Lymphadenop...	ORPHA:37042
Acute Adrenal Insufficiency	Hyperkalemia, Normocytic anemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, ...	ORPHA:95409
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	B lymphocytopenia, T lymphocytopenia, Absence of lymph node germinal center, Lymphopenia, Absent ...	ORPHA:277
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Sarcoidosis	Decreased liver function, Abnormal liver parenchyma morphology, Hepatomegaly, Abnormal lymph node...	ORPHA:797
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Hemophagocytosis, Anemia, Tremor, Leukopenia, Splenomega...	OMIM:214500
Pseudohypoparathyroidism Type 1B	Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngeal dystonia	ORPHA:94089
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly...	ORPHA:39041
Diamond-Blackfan Anemia 1	Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:105650
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemic seizures, Hepatomegaly, Hypocalcemia, Leukocytosis, Hypophosphatemia, Splenomegaly, ...	ORPHA:289157
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Pearson Syndrome	Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula...	ORPHA:699
2P21 Microdeletion Syndrome	Hypocalcemia	ORPHA:163693
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, H...	OMIM:615895
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Neuroleptic Malignant Syndrome	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Oculogyric crisis, Hyperur...	ORPHA:94093
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Trichothiodystrophy 6, Nonphotosensitive	Increased HbA2 hemoglobin, Decreased mean corpuscular volume	OMIM:616943
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatosplenomegaly, Spl...	ORPHA:1655
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymp...	OMIM:617591
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Lymphadenopathy, Lymphocytosis, Myeloproliferative disorder, Abnormality of the spl...	ORPHA:79456
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko...	ORPHA:83313
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Iron deficiency anemia, Hypophosphatemia	ORPHA:89937
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Albers-Schönberg Osteopetrosis	Hypocalcemia, Abnormal leukocyte morphology, Anemia	ORPHA:53
Roifman Syndrome	Eosinophilia, Lymphadenopathy, Hepatomegaly, Splenomegaly	OMIM:616651
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Abnormal natural...	ORPHA:79124
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Hypercalcemia, Cervical lymphadenopathy	ORPHA:653
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:169154
Multiple Endocrine Neoplasia Type 4	Abnormality of pancreas physiology, Insulinoma, Hypercalcemia, Thymoma, Extrahepatic cholestasis	ORPHA:276152
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Mevalonic Aciduria	Fluctuating splenomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopath...	OMIM:610377
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Anemia, Hypokalemia	OMIM:175500
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Anemia, Lymphadenopathy, Hypocalcemia, Tremor, Splenomegaly, Hypophosphatemia	ORPHA:667
Hereditary Amyloidosis With Primary Renal Involvement	Decreased liver function, Decreased HDL cholesterol concentration, Hepatomegaly, Abnormal lymph n...	ORPHA:85450
Scrub Typhus	Lymphadenopathy, Tremor, Splenomegaly	ORPHA:83317
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Immunodeficiency 10	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Splenomega...	OMIM:612783
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia, Anemia	OMIM:244460
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Pancytopenia, B lymphocytopenia, Lymphadenitis, T lymphocytopenia, Leukopenia, Hepatosplenomegaly...	OMIM:618986
Nephroblastoma	Neoplasm of the liver, Lymphadenopathy	ORPHA:654
Sandhoff Disease, Infantile Form	Hepatosplenomegaly, Exaggerated startle response	ORPHA:309155
Kaposi Sarcoma	Abnormality of the liver, Generalized lymphadenopathy, Abnormality of the spleen	ORPHA:33276
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb...	OMIM:618048
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Normochromic anemia, Acute myeloid leukemia, Ch...	ORPHA:98849
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr...	ORPHA:436159
Generalized Pustular Psoriasis	Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ...	ORPHA:247353
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Eisenmenger Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatomegaly, Hypochromic microcyt...	ORPHA:97214
Multiple Endocrine Neoplasia, Type I	Pancreatic islet cell adenoma, Hypercalcemia, Insulinoma	OMIM:131100
Genetic Recurrent Myoglobinuria	Hyperkalemia, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hyperphospha...	ORPHA:99845
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Squamous Cell Carcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424019
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Hypocalcemia, Hy...	ORPHA:26793
Legionnaires Disease	Jaundice, Pancreatitis, Lymphadenopathy, Bone marrow hypocellularity, Hyponatremia, Splenomegaly,...	ORPHA:549
Roifman Syndrome	Eosinophilia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:353298
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Cholestatic liver disease, Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy...	OMIM:619418
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Pancreatitis, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:99880
Parathyroid Carcinoma	Hypercalcemia, Pancreatitis, Hypophosphatemia, Pancreatic adenocarcinoma	ORPHA:143
Zollinger-Ellison Syndrome	Jaundice, Hypercalcemia, Extrahepatic cholestasis	ORPHA:913
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
American Trypanosomiasis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:3386
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Hypotonia-Cystinuria Syndrome	Hypocalcemia	OMIM:606407
Pheochromocytoma	Hypercalcemia	OMIM:171300
Chédiak-Higashi Syndrome	Decreased liver function, Hypertriglyceridemia, Elevated circulating hepatic transaminase concent...	ORPHA:167
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Enlarged tons...	OMIM:606367
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany	OMIM:612462
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Peritoneal ab...	ORPHA:1333
Medullary Thyroid Carcinoma	Abnormal liver parenchyma morphology, Lymphadenopathy	ORPHA:1332
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Leukocytosis, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal...	ORPHA:31824
Lig4 Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Pancytopenia, Leukocytosis	ORPHA:99812
Celiac Disease, Susceptibility To, 1	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Macrocytic anemi...	OMIM:212750
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Splenomegaly, Lymphopen...	ORPHA:1572
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Hypochromic anemia, Cervical lymph...	ORPHA:514
Stiff-Person Syndrome	Opisthotonus, Anemia, Exaggerated startle response	OMIM:184850
Carcinoid Syndrome	Abnormal circulating B-type natriuretic peptide concentration, Hepatic necrosis, Elevated circula...	ORPHA:100093
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Sandhoff Disease	Hepatomegaly, Hepatosplenomegaly, Exaggerated startle response	OMIM:268800
Bacterial Toxic-Shock Syndrome	Increased circulating metamyelocyte count, Hypocalcemia, Increased circulating myelocyte count, E...	ORPHA:36234
Kikuchi-Fujimoto Disease	Hepatomegaly, Abnormal lymph node morphology, Lymphadenopathy, Elevated circulating hepatic trans...	ORPHA:50918
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Chronic hepatic failure, Cholestasis, Diffuse hepatic steatosis	ORPHA:746
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Decreased proportion of naive T cells, T lymphocytopenia, Atypical or prolonged ...	ORPHA:83471
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Cholestasis, Leukocytos...	ORPHA:293173
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Liver Disease, Severe Congenital	Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ...	OMIM:619991
Agammaglobulinemia, X-Linked	Anemia, B lymphocytopenia, Hepatocellular carcinoma, Enteroviral hepatitis, T lymphocytopenia, Ly...	OMIM:300755
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Elevated circulating creatine kinase concentrat...	ORPHA:2785
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Pancreatoblastoma	Jaundice, Abnormal lymph node morphology, Pancreatic calcification	ORPHA:677
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Mixed Connective Tissue Disease	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Leukopenia, Splenomegaly, Hemolytic a...	ORPHA:809
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Timothy Syndrome	Hypocalcemia	OMIM:601005
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy, Peritonitis	ORPHA:343
Q Fever	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, H...	ORPHA:781
Multiple Endocrine Neoplasia Type 1	Insulinoma, Neoplasm of the pancreas, Hypercalcemia, Thymoma	ORPHA:652
Rajab Interstitial Lung Disease With Brain Calcifications 1	Decreased liver function, Cirrhosis, Elevated circulating hepatic transaminase concentration, Ane...	OMIM:613658
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Neutropenia	ORPHA:520
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp...	OMIM:608643
Graft Versus Host Disease	Jaundice, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Hemophagocyto...	ORPHA:39812
Periodic Fever, Familial, Autosomal Dominant	Hepatic amyloidosis, Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Elevated ...	OMIM:615688
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia, Lymphopenia	ORPHA:2136
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Lymphocytosis, Acute he...	ORPHA:139402
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Hepatomegaly, Splenomegaly	ORPHA:36412
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia, Writer's cramp	ORPHA:428
Gallbladder Neuroendocrine Tumor	Biliary tract obstruction, Intermittent jaundice, Chronic noninfectious lymphadenopathy, Biliary ...	ORPHA:100086
Farber Disease	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Anemia, Intrahepatic ch...	ORPHA:333
Developmental And Epileptic Encephalopathy 68	Exaggerated startle response	OMIM:618201
Primary Hepatic Neuroendocrine Carcinoma	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Biliary tract obstruction,...	ORPHA:100085
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Reduced hematocrit, Lymphadenopathy, Elevated circ...	ORPHA:79126
Sting-Associated Vasculopathy, Infantile-Onset	Anemia, Elevated circulating C-reactive protein concentration, Paratracheal lymphadenopathy, Leuk...	OMIM:615934
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Hyperphosphatemia, Laryngea...	ORPHA:79444
Williams Syndrome	Abnormal circulating lipid concentration, Cholelithiasis, Tremor, Elevated circulating creatine k...	ORPHA:904
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Increased proportion of CD4-positive T cells, Elevated circulating C-reactive pr...	OMIM:617099
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Increased B cell count, Absent peripheral lymph nodes in presence of infection, Increased T cell ...	ORPHA:98813
Autoimmune Lymphoproliferative Syndrome	Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Hepatocel...	ORPHA:3261
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Abnormality of neutrophils, Leukemia	ORPHA:33226
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia, Anemia	OMIM:127000
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Tangier Disease	Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, H...	ORPHA:31150
Immunodeficiency 87 And Autoimmunity	Hypertriglyceridemia, Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 rati...	OMIM:619573
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hepatic calcification, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Igg4-Related Thyroid Disease	Hypocalcemia, Pancreatic fibrosis, Retroperitoneal fibrosis, Sclerosing cholangitis	ORPHA:64744
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Exaggerated startle response, Hypernatremia, Dystonia, Thrombocytopenia...	OMIM:620423
Cartilage-Hair Hypoplasia	Hepatomegaly, Anemia, Hypocalcemia, Abnormality of the pancreas, Neutropenia	ORPHA:175
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:306400
Pseudohypoparathyroidism Type 1A	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypocalcemic tetany, Choreoathetosis, Hyperphosp...	ORPHA:79443
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Hilar lymph node enlargement, Cholestasis, Leukocytosis	OMIM:620233
Poems Syndrome	Hepatomegaly, Lymphadenopathy, Polycythemia, Splenomegaly, Thrombocytosis	ORPHA:2905
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Hypocalcemia, Hyperbilirubinemia, Thrombocytopenia, Absent gallbladder	ORPHA:163979
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100080
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Exaggerated startle response	OMIM:609541
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Hyper-Igd Syndrome	Lymphadenopathy, Lymphadenitis, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Aicardi-Goutieres Syndrome 7	Increased circulating ferritin concentration, Hepatomegaly, Anemia, Pancytopenia, Hepatitis, Dyst...	OMIM:615846
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response	ORPHA:320406
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Tremor, Exaggerated startle response	OMIM:618056
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased ...	OMIM:617718
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Exaggerated startle response	OMIM:620114
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia	ORPHA:93552
Immunodeficiency 31C	Autoimmune hemolytic anemia, Hepatomegaly, Impaired lymphocyte transformation with phytohemagglut...	OMIM:614162
Infection-Related Hemolytic Uremic Syndrome	Hyperkalemia, Pancreatitis, Hypocalcemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hemolytic...	ORPHA:544482
Congenital Syphilis	Pancreatitis, Lymphadenopathy, Anemia, Prolonged neonatal jaundice, Hepatosplenomegaly, Thrombocy...	ORPHA:499009
Neuroblastoma	Thrombocytopenia, Increased circulating ferritin concentration, Anemia, Lymphadenopathy	ORPHA:635
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Lymphadenopathy, Pancreatic hypoplasia, Histiocytosis, Hepatosplenomegaly, Splenome...	OMIM:602782
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Gm1 Gangliosidosis Type 1	Hepatosplenomegaly, Exaggerated startle response	ORPHA:79255
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Hepatosplenomegaly, Histiocytosis, Microcytic anemia	ORPHA:168569
Cranioectodermal Dysplasia 1	Hepatomegaly, Hypocalcemia, Hepatic cysts, Hepatic fibrosis, Malformation of the hepatic ductal p...	OMIM:218330
Neuroendocrine Tumor Of Stomach	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Ch...	ORPHA:100075
Sotos Syndrome	Prolonged neonatal jaundice, Acute lymphoblastic leukemia, Tremor, Hypercalcemia	ORPHA:821
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response	OMIM:620327
Leukodystrophy, Hypomyelinating, 13	Exaggerated startle response	OMIM:616881
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100082
Gm2-Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	OMIM:272750
Malt Lymphoma	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Ileal Neuroendocrine Tumor	Elevated circulating hepatic transaminase concentration, Iron deficiency anemia, Lymphadenopathy,...	ORPHA:100078
Cherubism	Marcus Gunn pupil, Submandibular lymph node enlargement	OMIM:118400
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Hyperkalemia, Hypocalcemia, Elevated circulating creatine kinase concen...	ORPHA:466650
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Hepatic failure	ORPHA:97287
Idiopathic Hypereosinophilic Syndrome	Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cholangitis, Pancreatit...	ORPHA:3260
Williams-Beuren Syndrome	Hypercalcemia, Portal hypertension	OMIM:194050
Brucellosis	Hepatomegaly, Liver abscess, Lymphadenopathy, Elevated circulating C-reactive protein concentrati...	ORPHA:1304
Tay-Sachs Disease	Increased serum beta-hexosaminidase, Tremor, Exaggerated startle response, Dystonia, Laryngeal dy...	ORPHA:845
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Dystonia, Exaggerated startle response	ORPHA:438216
Craniofacioskeletal Syndrome	Absent gallbladder, Hypocalcemia	OMIM:300712
Gitelman Syndrome	Hypermagnesemia, Neoplasm of the pancreas, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hyp...	ORPHA:358
Immunodeficiency 82 With Systemic Inflammation	Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:619381
22Q11.2 Deletion Syndrome	Cholelithiasis, Hypocalcemia, Abnormality of the tonsils, Hypoplasia of the thymus, Thrombocytope...	ORPHA:567
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Exaggerated startle response	OMIM:617864
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres...	OMIM:600802
Carney Triad	Anemia, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Elevated circulating hepatic transaminase concentration, Lymphadenopathy,...	ORPHA:99826
Digeorge Syndrome	Anemia, Cholelithiasis, Hypocalcemia, Hypoplasia of the thymus, Thrombocytopenia, Splenomegaly, A...	OMIM:188400
Ethylene Glycol Poisoning	Hypocalcemia, Hyperkalemia	ORPHA:31826
Combined Oxidative Phosphorylation Deficiency 58	Hyperprolinemia, Hyperalaninemia, Exaggerated startle response	OMIM:620451
Immunodeficiency 55	Absent natural killer cells, Neutropenia, Lymphadenopathy, Lymphopenia	OMIM:617827
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany	OMIM:103580
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Anemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response	OMIM:617301
Asparagine Synthetase Deficiency	Tremor, Hypoasparaginemia, Exaggerated startle response	OMIM:615574
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Igg4-Related Kidney Disease	Decreased liver function, Pancreatitis, Lymphadenopathy, Sclerosing cholangitis, Elevated circula...	ORPHA:449395
Selective Igm Deficiency	Decreased proportion of CD8-positive T cells, Lymphadenopathy, Decreased proportion of CD3-positi...	ORPHA:331235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Elevated circulating creatine kinase concentration, Exaggerated startle response	OMIM:253800
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leukocytosis, Splenomegal...	ORPHA:32960
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Hypereosin...	ORPHA:2035
Developmental And Epileptic Encephalopathy 49	Exaggerated startle response	OMIM:617281
Coccidioidomycosis	Pancreatitis, Lymphadenopathy, Mediastinal lymphadenopathy, Abnormality of the spleen, Peritoniti...	ORPHA:228123
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy, T lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Neutropenia	OMIM:607944
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Exaggerated startle response	ORPHA:521426
Igg4-Related Submandibular Gland Disease	Cholangitis, Lymphadenopathy, Abnormal pancreas morphology, Eosinophilia, Retroperitoneal fibrosis	ORPHA:449432
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Primary Sjögren Syndrome	Normocytic anemia, Lymphadenopathy, Normochromic anemia, Chronic active hepatitis, Biliary cirrho...	ORPHA:289390
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Cholestasis, Portal hypertension, Hypomagnesemia, Hepatosplenomegaly, Hepatic steat...	OMIM:619503
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Crimean-Congo Hemorrhagic Fever	Jaundice, Hepatomegaly, Lymphadenopathy, Pancytopenia, Acute pancreatitis, Elevated circulating c...	ORPHA:99827
Johanson-Blizzard Syndrome	Intrahepatic cholestasis, Hepatomegaly, Hypocalcemia, Portal hypertension, Elevated circulating a...	OMIM:243800
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Elevated serum transaminases during in...	ORPHA:509
Adenocarcinoma Of The Anal Canal	Neoplasm of the liver, Lymphadenopathy	ORPHA:424016
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Leukocytosis, Acute hepatic failure, Splenomegaly, Peritonitis	ORPHA:342
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response	OMIM:617527
Proteasome-Associated Autoinflammatory Syndrome 1	Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Elevated circulating...	OMIM:256040
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Anemia, Hypocalcemic tetany	ORPHA:93325
Kawasaki Disease	Jaundice, Elevated circulating C-reactive protein concentration, Leukocytosis, Cholecystitis, Hyp...	ORPHA:2331
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Igg4-Related Ophthalmic Disease	Pancreatitis, Cholangitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration...	ORPHA:449563
Blau Syndrome	Abnormality of the liver, Lymphadenopathy, Anemia, Splenomegaly	ORPHA:90340
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia, Dystonia	OMIM:620330
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic noninfectious lymp...	ORPHA:100079
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Mediastinal lymphadenopathy, Pancytopenia, Splenomegaly, Generalized lymphadenopathy	OMIM:181000
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia, Retroperitoneal fibrosis, Lymphadenopathy	ORPHA:79078
African Trypanosomiasis	Jaundice, Hepatomegaly, Lymphadenopathy, Tremor, Hepatosplenomegaly, Splenomegaly, Choreoathetosis	ORPHA:3385
Systemic Lupus Erythematosus	Thrombocytopenia, Leukopenia, Lymphadenopathy, Hemolytic anemia	ORPHA:536
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Hypocalcemia, Lymphopenia	OMIM:214800
Behçet Disease	Lymphadenopathy, Pancreatitis, Splenomegaly	ORPHA:117
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Dystonia, Anemia, Decreased circulating iron concentration, Exaggerated startle response	ORPHA:438213
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Pancreatic adenocarcinoma, Lymphopenia, Neoplasm of the thymus, L...	ORPHA:99889
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response	OMIM:619522

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Lymph node - MPATH pathological process term hyperplasia	Btbd2^em1(IMPC)Mbp	HOM		Early adult
Lymph node - MPATH pathological entity term lymphoid hyperplasia	Btbd2^em1(IMPC)Mbp	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Btbd2.

No publications found that use IMPC mice or data for Btbd2.

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

MGI Allele	Allele Type	Produced
Btbd2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Btbd2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Btbd2^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Btbd2^{tm83933(L1L2_Pgk_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Btbd2 MGI:1933831

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

Human diseases caused by Btbd2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data