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Gene: B3gnt5 MGI:2137302

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
Synonyms:
N/A

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No 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.

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.

Phenotype associated images not available

Human diseases caused by B3gnt5 mutations

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

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

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

The table below shows human diseases predicted to be associated to B3gnt5 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lymphoma, Hodgkin, Classic
Impaired lymphocyte transformation with phytohemagglutinin, Polyclonal elevation of IgM OMIM:236000
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Immunoerythromyeloid Hypoplasia
Erythroid hypoplasia, Decreased circulating IgG level OMIM:242880
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Monoclonal immunoglobulin M proteinem... OMIM:153600
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Histiocytosis, Familial Lipochrome
Increased circulating antibody level, Histiocytosis OMIM:235900
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Prader-Willi syndrome (Type 1)
Truncal obesity, Hypogonadism DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity, Hypogonadism DECIPHER:53
Cephalin Lipidosis
Abnormality of the spleen OMIM:212800
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
Tuftsin Deficiency
Abnormality of the spleen OMIM:191150
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Miscarriage, Infertility, Abnormal lymph node morphology OMIM:136580
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgE level, Hepatosplenomegaly, Increased proportion of memory T cells, Incr... OMIM:618982
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Decreased circulating total IgM, Decreased circulating IgG level, B lymphocytopenia, Abnormally l... OMIM:618987
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Decreased circulating total ... OMIM:618459
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Absent circulating B ... OMIM:619707
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Decreased ... OMIM:619924
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Immunodeficiency 44
Decreased circulating total IgM, Lymphopenia, Decreased circulating IgA level, Abnormal circulati... OMIM:616636
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Agammaglobulinemia 4, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Neutropenia, Dec... OMIM:613502
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Asthma, Short Stature, And Elevated Iga
Increased circulating IgA level OMIM:208600
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased circulating IgM le... OMIM:615513
Adenocarcinoma Of The Esophagus
Obesity, Lymphadenopathy ORPHA:99976
Immunodeficiency, Common Variable, 14
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Decreased... OMIM:617765
Immunodeficiency 50
Lymphopenia, Neutropenia, Decreased circulating antibody level OMIM:300988
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Decreased pro... OMIM:618944
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... OMIM:615206
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Agammaglobulinemia, Decreased circulating antibody level OMIM:616911
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Mantle Cell Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy ORPHA:52416
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Myeloma, Multiple
Paraproteinemia OMIM:254500
Immunoglobulin A Deficiency 2
Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Agammaglobulinemia 6, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, B lymphocytopeni... OMIM:612692
Bardet-Biedl Syndrome 10
Hypogonadism, Obesity OMIM:615987
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Death in childhood, Lymphopenia OMIM:619164
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Increased circulating IgA level, Autoimmune thrombocytopenia, Decreased proportion ... ORPHA:169154
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Death in infancy, Failure to thrive, Autoimmune thr... OMIM:617514
Cortisone Reductase Deficiency 1
Obesity, Infertility, Oligomenorrhea OMIM:604931
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Decreased lymphocyte proliferation in response to anti-CD3, Splenomegaly, Absent ci... OMIM:620282
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Increased circulating IgE level, Hypereosinophilia, Abnormal proportion of... OMIM:212050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Polycystic Ovary Syndrome 1
Obesity, Oligomenorrhea, Amenorrhea OMIM:184700
Syndromic X-Linked Intellectual Disability 7
Cryptorchidism, Hypogonadism, Obesity ORPHA:85274
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity OMIM:309585
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased T cell count, Increased circulating IgE level, Decreased... ORPHA:98813
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... OMIM:619281
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased circulating a... OMIM:615285
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Agammaglobulinemia 8A, Autosomal Dominant
Agammaglobulinemia, B lymphocytopenia OMIM:616941
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Failure to thrive in infancy, Hepatomegaly OMIM:619175
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Increased circulating IgG level, Increased circul... OMIM:209950
Immunodeficiency 104
Hepatomegaly, Splenomegaly, Lymphadenopathy, T lymphocytopenia, Failure to thrive secondary to re... OMIM:608971
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity OMIM:615983
Gamma-A-Globulin, Defect In Assembly Of
Decreased circulating IgA level OMIM:137050
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Agammaglobulinemia 7, Autosomal Recessive
Agammaglobulinemia, Reduced natural killer cell count, Panhypogammaglobulinemia, Neutropenia OMIM:615214
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Immunodeficiency, Common Variable, 11
Decreased proportion of class-switched memory B cells, Decreased circulating IgG level, Increased... OMIM:615767
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... OMIM:614470
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Death in infancy, Hepatomegaly ORPHA:139406
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Increased circulating IgG level, Autoimmune hemolytic anemia, Decreased CD4:CD8 ratio OMIM:618495
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Decreased circulating antibody level OMIM:193670
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Monoclonal immunoglobulin M proteinemia ORPHA:639
Agammaglobulinemia 2, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total IgM, Absent circulati... OMIM:613500
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Kimura Disease
Increased circulating IgE level, Eosinophilia ORPHA:482
Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin
Decreased circulating IgA level OMIM:235500
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Abnormal circulating IgM level, Increased circulating IgA level, Increas... OMIM:618048
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... OMIM:615592
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Partial absence of specific antibody response ... OMIM:301082
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Weight loss, Anemia ORPHA:100024
Sodium-Dependent Multivitamin Transporter Deficiency
Decreased circulating IgG level OMIM:618973
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Lymphopenia, Decreased proportion of naive T cells, Abnormal immunoglobulin level, Increased circ... ORPHA:276
Narcolepsy Type 1
Obesity ORPHA:2073
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Failure to thrive, Hepatomegaly OMIM:269840
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Truncal obesity, Hypogonadism, Failure to thrive, Decreased testicular size ORPHA:261483
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Immunodeficiency 67
Transient neutropenia, Increased circulating IgE level, Liver abscess OMIM:607676
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Increased circulating IgG level, Decreased circula... OMIM:243700
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Bardet-Biedl Syndrome 22
Hypogonadism, Obesity, Large for gestational age OMIM:617119
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... OMIM:607594
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Infertility, Oligozoospermia OMIM:615703
Summitt Syndrome
Obesity OMIM:272350
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Partial absence of specific antibody response to tetanus vaccine, Reduced nat... OMIM:618261
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Primary amenorrhea, Obesity OMIM:614962
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Anemia, Hepatosplenomegaly OMIM:273680
Combined Saposin Deficiency
Splenomegaly, Death in infancy, Hepatomegaly OMIM:611721
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... OMIM:617241
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weight loss, Mastocytosis ORPHA:66661
Immunodeficiency 43
Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Abnormal circulatin... OMIM:241600
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity OMIM:264120
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Failure to thrive, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia... OMIM:602450
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure to thrive, ... OMIM:618963
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:86893
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Lymphangiectasia, Intestinal
Lymphopenia, Decreased circulating IgG level OMIM:152800
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE, Decre... OMIM:619510
Severe Intellectual Disability-Hypotonia-Strabismus-Coarse Face-Planovalgus Syndrome
Obesity ORPHA:436141
Riddle Syndrome
Decreased circulating IgG level OMIM:611943
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the testes, Obesity ORPHA:3055
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Weight loss, Hepatomegaly ORPHA:79238
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, Hepatic steatosis OMIM:614480
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Biemond Syndrome Type 2
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:141333
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Decreased circulating total IgM, Defective T cell pr... OMIM:619774
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Immunoneurologic Disorder, X-Linked
Decreased circulating IgG2 level OMIM:300076
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Sandhoff Disease
Splenomegaly, Failure to thrive, Hepatomegaly ORPHA:796
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Galactosemia Iii
Splenomegaly, Jaundice, Failure to thrive, Hepatomegaly OMIM:230350
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Splenomegaly, Chronic lymphatic leukemia, Increased circulating IgM level, Increased... OMIM:616005
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal testis morphology, Hypogonadism, Decreased fertility, Obesity ORPHA:2233
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell activity, Spleno... OMIM:308240
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Lack of T cell function, Abnormality of humoral immunity, T lymp... ORPHA:277
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphaden... ORPHA:545
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, Obesity OMIM:615982
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophi... ORPHA:331206
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity OMIM:615985
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Bardet-Biedl Syndrome 7
Hypogonadism, Obesity OMIM:615984
Immunodeficiency 37
Decreased proportion of central memory CD4-positive, alpha-beta T cells, Decreased circulating an... OMIM:616098
Tyrosinemia Type 1
Splenomegaly, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Boutonneuse Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Leukopenia ORPHA:83313
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:300861
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Miscarriage, Abnormal hemoglobin, Anemia of inadequate productio... ORPHA:2133
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia, Failure to... ORPHA:397596
Ceroid storage disease
Abnormality of the spleen OMIM:214200
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level, Eosinophilia OMIM:617638
Bardet-Biedl Syndrome 16
Hypogonadism, Obesity OMIM:615993
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Hepatomegaly ORPHA:417
Short Stature Due To Primary Acid-Labile Subunit Deficiency
Truncal obesity ORPHA:140941
Immunodeficiency 92
Leukocytosis, Decreased proportion of class-switched memory B cells, B lymphocytopenia, Abnormal ... OMIM:619652
Intellectual Developmental Disorder, X-Linked 91
Obesity OMIM:300577
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Failure to thrive ORPHA:172
Congenital Disorder Of Glycosylation, Type Ik
Splenomegaly, Hypogonadism, Death in infancy, Hepatomegaly OMIM:608540
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Igg4-Related Aortitis
Increased circulating IgG4 level, Increased circulating IgE level, Hypereosinophilia, Increased c... ORPHA:449400
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Secondary amenorrhea, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Neutropenia ORPHA:2643
Immunodeficiency 97 With Autoinflammation
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... OMIM:619802
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Chromosome 16P13.3 Deletion Syndrome, Proximal
Death in infancy, Failure to thrive, Obesity, Polysplenia OMIM:610543
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Decreased circulating total IgM, B lymphocytopenia, Decreas... OMIM:614069
X-Linked Immunoneurologic Disorder
Decreased circulating IgG2 level ORPHA:2571
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... ORPHA:2688
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Truncal obesity, Childhood-onset truncal obesity OMIM:610156
Immunoglobulin Kappa Light Chain Deficiency
Abnormal immunoglobulin level OMIM:614102
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Failure to thrive, Ne... ORPHA:79301
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Lymphopenia, Eosinophilia, Hepatosplenomegaly, Increased circulating antibody level, Decreased ly... ORPHA:169160
Subacute Inflammatory Demyelinating Polyneuropathy
Increased circulating IgG level, Leukocytosis ORPHA:206594
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... OMIM:240500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity ORPHA:171706
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... OMIM:226990
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... OMIM:618986
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, In... OMIM:617388
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Death in infancy, Splenomegaly, Leukocytosis, Death in adolescence, Death in childhood OMIM:618042
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Increased hepatic glycogen content, Enlarged tonsils, Large for gestational age ORPHA:293964
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy ORPHA:42642
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Azoospermia, Infertility, Cirrhosis, A... OMIM:602390
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Truncal obesity OMIM:300471
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Obesity OMIM:620270
Adiposis Dolorosa
Obesity OMIM:103200
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Decreased testicular ... OMIM:610628
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Lymphopenia, Splenomegaly, Decreased circulating total IgM, Leukopenia, Decreased circulating IgG... OMIM:620210
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Increased circulatin... ORPHA:443811
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Decreased circulating total IgM, Cutaneous abscess,... OMIM:619752
Macrocephaly/Autism Syndrome
Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Hydrocele testis, Overgrowth, Lym... OMIM:605309
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Bardet-Biedl Syndrome 2
Hypogonadism, Obesity OMIM:615981
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis, Anemia OMIM:607616
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis, Failure to thrive OMIM:619868
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Death in infancy, Splenomegaly, Abnormality of the spleen, Stillbirth... ORPHA:85212
Simpson-Golabi-Behmel Syndrome, Type 2
Obesity OMIM:300209
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Decreased ci... OMIM:616100
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Obesity ORPHA:2183
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly OMIM:615010
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Death in childhood, Thrombocytopenia OMIM:610333
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:615085
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Decreased fertility, Obesity, Hypogonadism, Decreased testicular size ORPHA:2234
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... OMIM:308230
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
11P15.4 Microduplication Syndrome
Obesity ORPHA:300305
Immunodeficiency 23
Hemolytic anemia, Abscess, Eosinophilia, Increased circulating IgE level, Increased circulating I... OMIM:615816
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Lymphadenopathy, Failure to thrive, Reduced natural killer cell count OMIM:609981
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:363741
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ob... ORPHA:261529
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Angiostrongyliasis
Increased circulating IgA level, Hypereosinophilia, Increased circulating specific IgE antibody, ... ORPHA:74
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Perianal abscess, Leukocytosis, Increased circulating IgE level, Increased circulating IgG level,... OMIM:618213
Infantile Sialic Acid Storage Disease
Hepatomegaly, Failure to thrive, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Death in chi... OMIM:269920
Carpenter Syndrome
Cryptorchidism, Obesity, Polysplenia ORPHA:65759
Sting-Associated Vasculopathy, Infantile-Onset
Increased circulating IgA level, Increased circulating IgG level, Leukopenia, Thrombocytosis, Lym... OMIM:615934
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Death in childhood, ... OMIM:601847
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Obesity OMIM:300238
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity OMIM:613670
Coproporphyria, Hereditary
Splenomegaly, Jaundice, Hepatomegaly OMIM:121300
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Childhood-onset truncal obesity, Obesity, Cholestasis ORPHA:71526
Mehmo Syndrome
Male hypogonadism, Small for gestational age, Obesity OMIM:300148
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Decreased body weight, Thrombocytopenia OMIM:231000
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Splenomegaly, Obesity, Cholestasis, Hepatic fibrosis OMIM:615630
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Immunodeficiency 22
Abscess, Thrombocytopenia, Decreased circulating total IgM, Decreased circulating IgE, Decreased ... OMIM:615758
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia ORPHA:37748
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Prader-Willi Syndrome Due To Imprinting Mutation
Hypogonadotropic hypogonadism, Obesity ORPHA:177910
Perrault Syndrome 4
Premature ovarian insufficiency, Obesity, Primary amenorrhea, Secondary amenorrhea, Disproportion... OMIM:615300
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Chilblain Lupus
Increased circulating antibody level, Chronic myelomonocytic leukemia ORPHA:90280
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Premature ovarian insufficiency ORPHA:2928
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Failure to thrive, Pure red cell aplasia, Autoimmune thrombocytopeni... OMIM:613179
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Hepatomegaly ORPHA:2204
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Abdominal obesity, Hypogonadism, Decreased testicular ... OMIM:300869
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Gaucher Disease Type 2
Splenomegaly, Hepatomegaly ORPHA:77260
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Primary amenorrhea, Hepatosplenomegaly, Hepatic steatosis OMIM:612526
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Proprotein Convertase 1/3 Deficiency
Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:600955
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Spinocerebellar Ataxia, Autosomal Recessive 21
Splenomegaly, Hepatic bridging fibrosis, Hepatic fibrosis, Hepatomegaly OMIM:616719
Nephronophthisis 15
Obesity OMIM:614845
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Weight loss, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
O'Sullivan-Mcleod Syndrome
Increased circulating antibody level, Eosinophilia ORPHA:99965
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Obesity OMIM:616756
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Hemophagocytosis OMIM:300635
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Obesity ORPHA:276630
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Premature ovarian insufficiency, Obesity OMIM:618124
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Jaundice, Hepat... ORPHA:905
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Secondary amenorrhea, Decreased testicul... ORPHA:3085
Mehmo Syndrome
Cryptorchidism, Obesity ORPHA:85282
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Obesity OMIM:301900
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death, Eosinophilia, Neutropenia OMIM:257100
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures
Obesity OMIM:618725
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Wilson-Turner Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Truncal obesity ORPHA:3459
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Decreased circulating t... OMIM:275350
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia ORPHA:79312
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Increased circulating IgE level ORPHA:1858
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Peeling Skin Syndrome 1
Increased circulating IgE level, Eosinophilia OMIM:270300
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Laurence-Moon Syndrome
Congenital hepatic fibrosis, Obesity, Cryptorchidism ORPHA:2377
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Cachexia, Splenome... ORPHA:824
Trisomy 5P
Obesity ORPHA:1742
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Caffey Disease
Increased circulating antibody level ORPHA:1310
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Failure to thrive, Exocrin... OMIM:612714
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Increased circulating IgE level OMIM:618985
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Bardet-Biedl Syndrome 19
Hypogonadism, Hepatic steatosis, Obesity OMIM:615996
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Obesity ORPHA:85286
Retinitis Pigmentosa
Abnormal testis morphology, Hypogonadism, Obesity ORPHA:791
Joubert Syndrome 33
Splenomegaly OMIM:617767
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Failure to thrive, B lymphocytopenia, Failure to thrive secondary to recurrent... OMIM:601457
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Congenital Myopathy 9A
Cryptorchidism, Obesity OMIM:618822
Cholesteryl Ester Storage Disease
Hepatomegaly, Death in infancy, Failure to thrive, Bone-marrow foam cells, Portal hypertension, H... OMIM:278000
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Cachexia, Splenomegaly, Ascites, Anemia ORPHA:75233
Mevalonic Aciduria
Splenomegaly ORPHA:29
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Splenomegaly, Ascites, Anemia ORPHA:1046
Immunodeficiency 32A
Lymphadenitis, Granuloma, Lymphadenopathy OMIM:614893
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Thrombocytopenia 1
Increased circulating IgA level, Increased circulating IgE level, Decreased mean platelet volume,... OMIM:313900
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Macrocytic anemia, Failure to thrive, Death in infancy OMIM:619046
Chromosome Xq21 Deletion Syndrome
Obesity OMIM:303110
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Thrombocytopenia, Absent circulating B cells OMIM:619693
Atkin-Flaitz Syndrome
Macroorchidism, Obesity ORPHA:1193
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Morm Syndrome
Truncal obesity ORPHA:75858
Temple Syndrome
Small for gestational age, Overweight, Cryptorchidism, Obesity, Truncal obesity, Decreased testic... OMIM:616222
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Rec... OMIM:618935
Igg4-Related Submandibular Gland Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449432
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Eosinophilia OMIM:618523
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Failure to thrive, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombo... OMIM:616050
Babesiosis
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Leukopenia, Thrombocytopenia ORPHA:108
Leptin Receptor Deficiency
Hypergonadotropic hypogonadism, Obesity OMIM:614963
Autoimmune Hepatitis
Splenomegaly, Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Cryptorchidism, Obesity OMIM:615633
Farber Lipogranulomatosis
Splenomegaly, Failure to thrive, Lipogranulomatosis, Hepatomegaly OMIM:228000
Bardet-Biedl Syndrome 9
Truncal obesity, Irregular menstruation, Obesity OMIM:615986
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... OMIM:600802
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Osteopetrosis, Autosomal Dominant 3
Splenomegaly, Anemia, Hepatomegaly OMIM:618107
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Obesity ORPHA:521390
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Increased ci... ORPHA:29073
Hurler-Scheie Syndrome
Splenomegaly, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
11Q22.2Q22.3 Microdeletion Syndrome
Obesity ORPHA:444002
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Hepatic Veno-Occlusive Disease
Hepatomegaly, Jaundice, Ascites, Increased body weight ORPHA:890
Wagr Syndrome
Cryptorchidism, Obesity ORPHA:893
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased proportion of CD3-positive T cells, Decreased circulating IgG level, Decreased circulat... ORPHA:275
Chung-Jansen Syndrome
Cryptorchidism, Obesity OMIM:617991
Niemann-Pick Disease, Type A
Hepatomegaly, Failure to thrive, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphad... OMIM:257200
Low Phospholipid-Associated Cholelithiasis
Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, Biliary cirrhosis, Obesity, Neo... ORPHA:69663
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Impotence, ... OMIM:235200
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Hepatomegaly, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosin... OMIM:102700
Retinal Dystrophy And Obesity
Obesity OMIM:616188
Bile Acid Synthesis Defect, Congenital, 2
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Failure to thrive OMIM:235555
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Obesity OMIM:606772
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Splenomegaly, Thrombocytopenia, H... ORPHA:158057
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Eosinophilia, Cutaneous abscess OMIM:147060
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased circulating IgA level, Leukocytosis, Increased circulating IgM level, Inc... OMIM:617099
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Truncal obesity, Abdominal obesity OMIM:618160
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Afibrinogenemia, Congenital
Death in infancy, Splenic rupture, Death in adolescence, Death in childhood, Neonatal death OMIM:202400
Congenital Disorder Of Glycosylation, Type Iij
Splenomegaly, Failure to thrive, Cirrhosis, Hepatomegaly OMIM:613489
Summitt Syndrome
Obesity, Tall stature ORPHA:3210
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Omenn Syndrome
Hepatomegaly, Failure to thrive, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnor... ORPHA:39041
48,Xxyy Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Obesity, Azoospermia, Infertility, Decreased test... ORPHA:10
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Senior-Loken Syndrome 9
Hypogonadism, Hepatic fibrosis, Obesity, Cholestasis OMIM:616629
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice, Cirrhosis,... OMIM:211600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... ORPHA:436159
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619737
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Decreased p... ORPHA:66628
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Bardet-Biedl Syndrome 21
Overweight, Obesity OMIM:617406
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Primary Intestinal Lymphangiectasia
Lymphopenia, Decreased circulating antibody level, Decreased circulating total IgM, Decreased pro... ORPHA:90362
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Temple Syndrome
Cryptorchidism, Small for gestational age, Obesity ORPHA:254516
Tularemia
Brain abscess, Leukocytosis, Anemia, Increased circulating antibody level, Thrombocytopenia, Cuta... ORPHA:3392
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Clark-Baraitser syndrome
Macroorchidism, Obesity, Tall stature OMIM:300602
Pyoderma Gangrenosum
Myeloid leukemia, Increased circulating antibody level ORPHA:48104
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Obesity, Primary amenorrhea, Hypoplasia of the ovary, Decreased p... ORPHA:179494
Free Sialic Acid Storage Disease
Splenomegaly, Ascites, Failure to thrive in infancy, Hepatomegaly ORPHA:834
Megalencephaly
Macroorchidism, Truncal obesity ORPHA:2477
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Truncal obesity ORPHA:85280
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Truncal obesity ORPHA:2429
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Increased circulating IgM level, Reduced natural killer cell count, T lymphocytopenia, Decreased ... OMIM:242860
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:85414
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Baralle-Macken Syndrome
Obesity OMIM:619255
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Intellectual Developmental Disorder, Autosomal Dominant 39
Obesity OMIM:616521
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Cryptorchidism, Streak ovary, Obesity OMIM:194072
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome
Obesity ORPHA:352530
Adult-Onset Nemaline Myopathy
Paraproteinemia ORPHA:171442
Iga Pemphigus
Eosinophilia, Cutaneous abscess, Monoclonal elevation of circulating IgA, Increased circulating I... ORPHA:555905
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Small for gestational age, Splenomegaly, Micronodular cirrhosis, Thro... OMIM:606003
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Ascites OMIM:256550
Joubert Syndrome 37
Decreased testicular size, Hepatomegaly, Obesity, Cryptorchidism OMIM:619185
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Weight loss, Bone marrow hypocellu... ORPHA:47612
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Primary amenorrhea, Obesity, Hypoplasia of th... ORPHA:2235
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Congenital Pulmonary Lymphangiectasia
Splenomegaly, Ascites, Hepatomegaly ORPHA:2414
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Bardet-Biedl Syndrome 3
Obesity OMIM:600151
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Obesity ORPHA:3077
Infantile Liver Failure Syndrome 3
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Death in childhood, Hepatic bridging fibrosis,... OMIM:618641
Bdv Syndrome
Cryptorchidism, Hypogonadotropic hypogonadism, Obesity, Primary amenorrhea OMIM:619326
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Increased circulating IgE level, Decreased circulating IgA level, Cutaneous abscess... OMIM:618282
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Urban-Rogers-Meyer Syndrome
Cryptorchidism, Hypogonadism, Obesity ORPHA:3409
Obesity Due To Sim1 Deficiency
Obesity ORPHA:369873
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Granuloma, Increased circulating IgM level ORPHA:562639
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Small for gestational age, Obesity, Truncal obesity ORPHA:96184
Clark-Baraitser Syndrome
Obesity OMIM:617752
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Failure to thrive, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Ach... OMIM:613812
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Schaaf-Yang Syndrome
Cryptorchidism, Hypogonadism, Obesity, Failure to thrive in infancy OMIM:615547
Laurence-Moon Syndrome
Obesity OMIM:245800
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Rafiq Syndrome
Truncal obesity, Obesity OMIM:614202
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Cornelia De Lange Syndrome 5
Cryptorchidism, Hypogonadism, Decreased testicular size, Truncal obesity OMIM:300882
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Obesity ORPHA:397973
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Obesity ORPHA:254525
Agammaglobulinemia, X-Linked
Agammaglobulinemia, Decreased circulating total IgM, T lymphocytopenia, Decreased circulating IgE... OMIM:300755
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia, Menorrhagia, Abnormal number of alpha granules OMIM:139090
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Obesity ORPHA:480907
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Cryptorchidism, Obesity ORPHA:171839
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgE level, Anemia, Coombs-positi... OMIM:304790
Familial Thrombocytosis
Acute myeloid leukemia, Miscarriage, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thr... ORPHA:71493
Down Syndrome
Decreased fertility, Abnormality of the lymphatic system, Obesity, Acute megakaryocytic leukemia ORPHA:870
Rift Valley Fever
Increased circulating IgG level, Thrombocytopenia, Increased circulating IgM level, Anemia ORPHA:319251
Subaortic Stenosis-Short Stature Syndrome
Biliary tract abnormality, Obesity ORPHA:3191
Adams-Oliver Syndrome 6
Splenomegaly, Hepatic fibrosis, Portal hypertension OMIM:616589
14Q11.2 Microduplication Syndrome
Obesity ORPHA:261229
Intellectual Developmental Disorder, X-Linked 12
Cryptorchidism, Increased body mass index, Small for gestational age, Truncal obesity OMIM:300957
Ataxia-Oculomotor Apraxia Type 4
Obesity ORPHA:459033
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Papa Syndrome
Increased circulating antibody level ORPHA:69126
Tick-Borne Encephalitis
Leukocytosis, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Abnor... ORPHA:297
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Failure to thrive, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Lymphopenia, An... OMIM:617591
Nodular Non-Suppurative Panniculitis
Splenomegaly, Weight loss, Hepatomegaly ORPHA:33577
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Essential Thrombocythemia
Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Thrombocytopenia, Ch... ORPHA:398124
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Truncal obesity, Obesity OMIM:618363
Gaisböck Syndrome
Overweight, Splenomegaly, Increased mean corpuscular hemoglobin concentration, Obesity, Increased... ORPHA:90041
Bardet-Biedl Syndrome
Cryptorchidism, Obesity, Hypoplasia of the ovary, Hypogonadism, Hepatic fibrosis ORPHA:110
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Abnormal erythrocyte enzyme level, Splenomegaly, Irregular menstruati... ORPHA:264580
Retinitis Pigmentosa 51
Obesity OMIM:613464
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Weight loss ORPHA:99978
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Obesity, Tall stature OMIM:618089
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Obesity ORPHA:411515
Spastic Paraplegia 11, Autosomal Recessive
Obesity OMIM:604360
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Obesity OMIM:619854
Netherton Syndrome
Decreased circulating IgG level, Hypereosinophilia, Increased circulating IgE level OMIM:256500
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Triosephosphate Isomerase Deficiency
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Death in infancy, Failure to thrive, Sple... OMIM:615512
Luscan-Lumish Syndrome
Overgrowth, Irregular menstruation, Obesity OMIM:616831
X-Linked Intellectual Disability, Stevenson Type
Obesity, Tall stature ORPHA:85325
Rhizomelic Limb Shortening With Dysmorphic Features
Obesity OMIM:618821
6Q16 Microdeletion Syndrome
Obesity ORPHA:171829
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Obesity ORPHA:254531
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hepatic steatosis OMIM:615980
Acrodysostosis 2 With Or Without Hormone Resistance
Cryptorchidism, Obesity OMIM:614613
Beta-Mercaptolactate Cysteine Disulfiduria
Obesity ORPHA:1035
Leukodystrophy, Hypomyelinating, 24
B lymphocytopenia OMIM:619851
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Splenomegaly, Cardiomegaly OMIM:252920
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Cryptorchidism, Abdominal obesity, Hypogonadism, Decreased testicular size OMIM:300354
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Increased circulating IgE level, Hypereosinophilia ORPHA:2902
Insulin-Resistance Syndrome Type B
Decreased circulating complement factor B concentration, Increased circulating IgA level, Increas... ORPHA:2298
Idiopathic Intracranial Hypertension
Obesity ORPHA:238624
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Sideroblastic anemia, Splenomegaly, Schistocytosis, Hypochromic microcytic anemia, B lymphocytopenia OMIM:616084
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Cryptorchidism, Obesity ORPHA:464288
Pseudopseudohypoparathyroidism
Obesity OMIM:612463
Microtriplication 11Q24.1
Obesity ORPHA:289522
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Dysmenorrhea, Splenomegaly, Secondary amenorrhea, Primary amenorrhea, Oligomenorrhe... ORPHA:79083
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Anemia, Prolonged neonatal jaundice, Failure to thrive, Thrombocytopenia OMIM:170100
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Obesity ORPHA:464282
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Sarcoidosis, Susceptibility To, 2
Splenomegaly, Mediastinal lymphadenopathy, Hepatomegaly OMIM:612387
Carpenter Syndrome 1
Cryptorchidism, Obesity, Polysplenia OMIM:201000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Dysmenorrhea, Splenomegaly, Irregular menstruation, Hepatocellular adenoma, Increas... ORPHA:79240
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Obesity OMIM:300055
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Autoimmune hemolytic anemia, Jaundice, Chronic lymphatic leukemia ORPHA:90033
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia ORPHA:169090
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Abnormality of the liver ORPHA:91138
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
48,Xxxy Syndrome
Cryptorchidism, Obesity, Azoospermia, Hypogonadism, Infertility, Decreased testicular size, Tall ... ORPHA:96263
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic syst... ORPHA:464329
Intellectual Developmental Disorder, Autosomal Recessive 13
Truncal obesity OMIM:613192
Intellectual Developmental Disorder, X-Linked 107
Obesity OMIM:301013
15Q24 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Small for gestational age, Obesity ORPHA:94065
13Q12.3 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:412035
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Leukopenia, Cirrhosis,... ORPHA:77259
Brucellosis
Liver abscess, Lung abscess, Hypersplenism, Thrombocytopenia, Leukocytosis, Splenomegaly, Increas... ORPHA:1304
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Increased circulating antibody level, Thrombocytopenia ORPHA:319218
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Failure to thr... ORPHA:231226
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Myeloid leukemia, Proportionate tall stature, Obesity ORPHA:404443
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Splenomegaly, Hypogonadism, Failure to thrive, Decreased testicular size OMIM:201100
Chromosome 3Q29 Duplication Syndrome
Obesity OMIM:611936
Niemann-Pick Disease, Type C2
Hepatomegaly, Death in infancy, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Jaundice, De... OMIM:607625
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Thrombocytopenia, Leukopenia, Truncal obesity, Hemophagocytosis, Fail... OMIM:222700
Dyskeratosis Congenita, Digenic
Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased circulating I... OMIM:620040
Sim1-Related Prader-Willi-Like Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Abdominal obesity, Hy... ORPHA:398079
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hepatomegaly OMIM:618541
Ataxia-Telangiectasia
Decreased circulating IgG level, Lymphopenia, Acute lymphoblastic leukemia, T lymphocytopenia, Hy... OMIM:208900
Pneumocystosis
Increased circulating antibody level, Abnormal neutrophil count ORPHA:723
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Menorrhagia, Thro... OMIM:153670
Generalized Pustular Psoriasis
Overweight, Leukocytosis, Lymphopenia, Obesity ORPHA:247353
Chops Syndrome
Splenomegaly, Obesity, Cryptorchidism OMIM:616368
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatomegaly, Death in infancy, Failure to thrive, Splenomeg... OMIM:300972
Common Variable Immunodeficiency
Hemolytic anemia, Failure to thrive in infancy, Autoimmune thrombocytopenia, Splenomegaly, Lympha... ORPHA:1572
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly, Micronodular cirrhosis, Jaund... OMIM:251880
Mody
Elevated hemoglobin A1c, Large for gestational age, Overweight, Hepatocellular adenoma, Obesity, ... ORPHA:552
Shox-Related Short Stature
Obesity ORPHA:314795
Joubert Syndrome 8
Hepatomegaly, Obesity, Prolonged neonatal jaundice OMIM:612291
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Microvesicular hepati... OMIM:619418
Müllerian Aplasia And Hyperandrogenism
Obesity, Primary amenorrhea ORPHA:247768
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Small for gestational age, Truncal obesity, Failure to thrive, Hypogonadism ORPHA:73272
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Portal vein thrombosis, Right ventricular hypertrophy OMIM:616028
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Kallmann Syndrome
Dyspareunia, Hypogonadotropic hypogonadism, Cryptorchidism, Decreased fertility, Primary amenorrh... ORPHA:478
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Decreased proportion o... ORPHA:331235
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Neutropenia, Increased circulating IgA level OMIM:616395
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Abnormal T cell subset distribution, ... ORPHA:221139
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Igg4-Related Pachymeningitis
Complement deficiency, Eosinophilia, Increased circulating IgG4 level ORPHA:449427
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Truncal obesity, Hypogonadism, Decreased testicular size ORPHA:3041
Isolated Biliary Atresia
Hepatomegaly, Small for gestational age, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis... ORPHA:30391
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Truncal obesity ORPHA:127
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Hepatomegaly, Neutrophilia, Failure to thrive in infancy, Abscess, Splenomegaly OMIM:612852
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Cholestasis OMIM:609734
Bardet-Biedl Syndrome 17
Hypogonadism, Obesity OMIM:615994
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Obesity, Tall stature OMIM:618430
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Obesity OMIM:619056
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Portal hypertension, Thrombocytopenia, Cryptorchidism... OMIM:620005
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Recurrent pancreatitis, Failure to thrive, Pancreatitis OMIM:615947
Bardet-Biedl Syndrome 6
Obesity OMIM:605231
Abdominal Obesity-Metabolic Syndrome 4
Elevated hemoglobin A1c, Obesity OMIM:618620
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Obesity ORPHA:93952
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Niemann-Pick Disease, Type C1
Hepatomegaly, Fetal ascites, Bone-marrow foam cells, Splenomegaly, Sea-blue histiocytosis, Prolon... OMIM:257220
Gaucher Disease, Type Ii
Death in infancy, Hepatomegaly, Splenomegaly, Anemia, Failure to thrive, Thrombocytopenia OMIM:230900
Coccidioidomycosis
Abscess, Eosinophilia, Abnormality of the spleen, Increased circulating IgG level, Increased circ... ORPHA:228123
Pituitary Adenoma 4, Acth-Secreting
Abdominal obesity, Oligomenorrhea, Obesity OMIM:219090
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Osteopetrosis, Autosomal Recessive 7
Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Anemia, Decreased... OMIM:612301
19P13.12 Microdeletion Syndrome
Cryptorchidism, Hepatic steatosis, Obesity ORPHA:254346
Pseudohypoparathyroidism, Type Ic
Hypogonadism, Obesity OMIM:612462
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level ORPHA:1493
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Cryptorchidism, Disproportionate tall stature, Abdominal obesity OMIM:301039
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Chromosome 2Q37 Deletion Syndrome
Obesity OMIM:600430
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Truncal obesity ORPHA:284180
Narcolepsy 7
Obesity OMIM:614250
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Small for gestational age, Portal hypertension, Biliary hyperplasia, Splenomegaly, ... ORPHA:567983
Zika Virus Disease
Increased circulating IgM level, Thrombocytopenia ORPHA:448237
Scheie Syndrome
Splenomegaly, Hepatomegaly ORPHA:93474
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Increased circulating IgE level, Increased circul... ORPHA:449395
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Pseudohypoparathyroidism, Type Ia
Hypogonadism, Obesity OMIM:103580
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Abnormal T cell subset distribution, ... ORPHA:158048
Bardet-Biedl Syndrome 12
Hypogonadism, Obesity OMIM:615989
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Failure to thrive, Intermittent thrombocytopenia, Perianal abscess, Splenomegaly, E... OMIM:612541
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, Obesity, Abnormal granulocyte morphology, Hepatic steatosis ORPHA:98907
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Obesity ORPHA:2180
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Male infertility, Premature... ORPHA:125
Proteasome-Associated Autoinflammatory Syndrome 1
Increased circulating interleukin 6 concentration, Increased circulating interleukin 8 concentrat... OMIM:256040
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Overgrowth, Obesity OMIM:620250
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities
Obesity OMIM:620191
Distal 16P11.2 Microdeletion Syndrome
Obesity ORPHA:261222
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Splenomegaly, Micronodular cirrhosis, Truncal obesity, Ascites, Thrombocytopenia OMIM:301072
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Obesity OMIM:618443
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Small for gestational age, Overweight, Jaundice, Obesity ORPHA:26793
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Pseudopseudohypoparathyroidism
Obesity ORPHA:79445
Igg4-Related Dacryoadenitis And Sialadenitis
Increased circulating IgM level, Thrombocytopenia, Increased circulating IgG4 level, Increased ci... ORPHA:79078
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Myotonic Dystrophy 2
Decreased circulating total IgM, Decreased circulating IgG level OMIM:602668
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Overgrowth OMIM:612918
Morgagni-Stewart-Morel Syndrome
Obesity ORPHA:77296
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly OMIM:260920
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Obesity, Enlarged kidney ORPHA:251004
Momo Syndrome
Overgrowth, Obesity, Tall stature, Large for gestational age ORPHA:2563
Monosomy 13Q34
Metrorrhagia, Hepatic steatosis, Obesity ORPHA:96168
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Obesity, Truncal obesity, Abdominal obesity, Hepatic fibrosis, Hypogon... OMIM:209900
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Obesity ORPHA:439822
Congenital-Onset Steinert Myotonic Dystrophy
Obesity, Decreased body weight ORPHA:589821
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Obesity OMIM:615418
Laron Syndrome
Truncal obesity ORPHA:633
Hyperparathyroidism, Neonatal Severe
Splenomegaly, Failure to thrive, Anemia, Hepatomegaly OMIM:239200
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Netherton Syndrome
Increased circulating IgE level, Decreased circulating antibody level ORPHA:634
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Microcephalic Primordial Dwarfism, Dauber Type
Obesity, Primary amenorrhea ORPHA:319675
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Obesity, Hepatosplenomegaly, Cholecystitis, Cholelithiasis OMIM:301066
Hereditary Orotic Aciduria
Splenomegaly, Anemia ORPHA:30
Cntnap2-Related Developmental And Epileptic Encephalopathy
Hepatomegaly, Obesity ORPHA:163681
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
X-Linked Intellectual Disability, Cabezas Type
Hypogonadism, Decreased testicular size, Cachexia, Obesity ORPHA:85293
Ataxia-Oculomotor Apraxia 4
Obesity OMIM:616267
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Alstrom Syndrome
Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Irregular menstruation, T... OMIM:203800
Prader-Willi Syndrome
Hypogonadotropic hypogonadism, Failure to thrive in infancy, Cryptorchidism, Obesity, Primary ame... OMIM:176270
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Obesity, Primary amenor... ORPHA:98754
Pigmented Nodular Adrenocortical Disease, Primary, 2
Truncal obesity, Pancreatitis OMIM:610475
Smith-Magenis Syndrome
Failure to thrive in infancy, Obesity ORPHA:819
Peripartum Cardiomyopathy
Left ventricular hypertrophy, Obesity, Anemia ORPHA:563
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Splenomegaly, Leukocytosis, Increased circulating IgG level, Increase... ORPHA:99827
Cystic Echinococcosis
Eosinophilia, Abscess, Increased circulating antibody level, Splenic cyst, Peritoneal abscess ORPHA:400
Sheehan Syndrome
Dyspareunia, Decreased female libido, Obesity, Normochromic anemia, Impotence, Oligomenorrhea, Am... ORPHA:91355
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone marrow hypocellularity, ... ORPHA:508542
Radio-Tartaglia Syndrome
Obesity OMIM:619312
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Obesity ORPHA:412
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Obesity, Primary amenor... ORPHA:98793
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia, Cardiomegaly, Hepatomegaly OMIM:231005
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Pancreatoblastoma
Jaundice, Weight loss, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Lymphopenia, Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Hyper... ORPHA:508533
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Obesity, Primary amenor... ORPHA:177904
Congenital Disorder Of Glycosylation, Type Ig
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:607143
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypogonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Obesity, Primary amenor... ORPHA:177901
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Hypergonadotropic hypogonadism, Cardiomegaly, Retroperitoneal fibrosis, Splenomegal... OMIM:602782
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Failure to thrive, Abnormal testis morphology, Obesity ORPHA:96147
Man1B1-Cdg
Truncal obesity ORPHA:397941
Cohen Syndrome
Cryptorchidism, Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Aspergillosis
Increased circulating IgE level, Eosinophilia, Neutropenia ORPHA:1163
Mucopolysaccharidosis-Plus Syndrome
Thrombocytopenia, Splenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hypocell... OMIM:617303
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating antibody level,... ORPHA:79329
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Decreased T cell activation, Leukopenia, T lymphocy... OMIM:242840
Lead Poisoning
Increased circulating IgE level, Imbalanced hemoglobin synthesis, Abnormal T cell morphology, Abn... ORPHA:330015
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Momo Syndrome
Overgrowth, Obesity OMIM:157980
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Thrombocytopenia, Leukocytosis, Hepatosp... OMIM:610377
Desbuquois Dysplasia 1
Obesity OMIM:251450
Short Stature, Microcephaly, And Endocrine Dysfunction
Truncal obesity, Lymphopenia, Anemia, Cryptorchidism OMIM:616541
Metaphyseal Chondrodysplasia, Schmid Type
Obesity ORPHA:174
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Obesity ORPHA:3157
Kleefstra Syndrome 1
Cryptorchidism, Obesity OMIM:610253
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis OMIM:608885
Bardet-Biedl Syndrome 20
Bilateral cryptorchidism, Male hypogonadism, Pancreatitis, Obesity OMIM:619471
Hyperimmunoglobulinemia D With Periodic Fever
Increased circulating IgA level ORPHA:343
Adiposis Dolorosa
Obesity ORPHA:36397
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss ORPHA:251071
Magel2-Related Prader-Willi-Like Syndrome
Cryptorchidism, Increased body weight, Primary amenorrhea, Abdominal obesity, Hypogonadism, Infer... ORPHA:398069
Rabin-Pappas Syndrome
Overgrowth, Obesity, Failure to thrive in infancy OMIM:620155
Bloom Syndrome
Elevated hemoglobin A1c, Decreased circulating total IgM, Leukemia, Decreased circulating IgG lev... OMIM:210900
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Hepatitis, Neutropenia in presence of a... ORPHA:391487
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Hepatitis, Cholestasis, Hepati... OMIM:610199
Angelman Syndrome Due To A Point Mutation
Obesity ORPHA:411511
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Irregular menstruation, Increased body weight, Abdominal obesity, Abnormal libido, Hepatic steatosis ORPHA:189427
Den Hoed-De Boer-Voisin Syndrome
Overweight, Decreased body weight, Obesity, Death in adolescence OMIM:619229
Xylt1-Cdg
Hepatomegaly, Truncal obesity ORPHA:370930
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Hepatitis, Lymphaden... OMIM:619381
Lassa Fever
Increased circulating IgM level ORPHA:99824
Pigmented Nodular Adrenocortical Disease, Primary, 1
Truncal obesity, Secondary amenorrhea OMIM:610489
Igg4-Related Ophthalmic Disease
Increased circulating IgE level, Eosinophilia, Increased circulating IgG4 level ORPHA:449563
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98855
Familial Tumoral Calcinosis
Splenomegaly, Hepatomegaly ORPHA:53715
Marbach-Schaaf Neurodevelopmental Syndrome
Obesity OMIM:619680
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Obesity OMIM:618395
Wagro Syndrome
Decreased testicular size, Obesity OMIM:612469
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Eosinophilia ORPHA:2314
Beckwith-Wiedemann Syndrome
Hepatomegaly, Tall stature, Cardiomegaly, Large for gestational age, Splenomegaly, Cryptorchidism... ORPHA:116
X-Linked Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Obesity ORPHA:98853
Abdominal Obesity-Metabolic Syndrome 3
Truncal obesity, Abdominal obesity OMIM:615812
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Increased circulating IgG level, Normochromic anemia, Increased circulating an... ORPHA:91500
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity ORPHA:3224
Webb-Dattani Syndrome
Cryptorchidism, Obesity OMIM:615926
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Hepatocellular carcinoma, Pancreati... OMIM:232220
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Abnormal lymphocyte morphology, Failure to thrive, Severe B lymphocytopenia, Autoimmune thrombocy... ORPHA:293978
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Obesity OMIM:608624
Retinal Dystrophy With Or Without Macular Staphyloma
Truncal obesity OMIM:617547
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Angelman Syndrome
Delayed menarche, Obesity ORPHA:72
Proximal 16P11.2 Microdeletion Syndrome
Failure to thrive, Obesity ORPHA:261197
White-Sutton Syndrome
Failure to thrive, Obesity OMIM:616364
Ulnar-Mammary Syndrome
Cryptorchidism, Decreased fertility, Obesity ORPHA:3138
Familial Mediterranean Fever
Hepatomegaly, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis OMIM:249100
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Abnormal T cell morphology, Decreased circulating ant... ORPHA:3132
Cushing Disease
Leukocytosis, Increased body weight, Secondary amenorrhea, Truncal obesity, Abdominal obesity, Ol... ORPHA:96253
Angelman Syndrome
Obesity OMIM:105830
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Obesity OMIM:617296
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Liver abscess, Decreased circulating total IgM, Decreased circulating IgG level, Decreased specif... ORPHA:183675
Encephalitis Lethargica
Increased circulating antibody level ORPHA:83600
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Obesity ORPHA:98794
Achondroplasia
Obesity ORPHA:15
2Q37 Microdeletion Syndrome
Obesity ORPHA:1001
Agammaglobulinemia 1, Autosomal Recessive
Rectal abscess, Failure to thrive, B lymphocytopenia, Neutropenia OMIM:601495
Retinitis Pigmentosa 74
Obesity OMIM:616562
Kleefstra Syndrome
Cryptorchidism, Obesity ORPHA:261494
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increased bod... ORPHA:99889
Q Fever
Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Granuloma, Increased circulating antibody lev... ORPHA:781
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hepatosplenomegaly, Increased circulating IgM level, Leukopenia, Bone marrow hy... ORPHA:505248
Secondary Intestinal Lymphangiectasia
Decreased circulating IgG1 level, Decreased circulating antibody level, Decreased circulating tot... ORPHA:90363
Prader-Willi Syndrome
Cryptorchidism, Primary amenorrhea, Abdominal obesity, Hypogonadism, Infertility, Failure to thri... ORPHA:739
Insulin-Like Growth Factor I, Resistance To
Truncal obesity, Decreased body weight OMIM:270450
Tyrosinemia, Type I
Hepatomegaly, Failure to thrive, Splenomegaly, Pancreatic islet-cell hyperplasia, Cirrhosis, Hepa... OMIM:276700
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Increased circulating antibody level, An... ORPHA:284
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Elevated hemoglobin A1c, Decreased fertility in females, Spleno... OMIM:269700
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia ORPHA:2905
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Failure to thrive, Hepatomegaly OMIM:612132
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Truncal obesity, Anemia ORPHA:2637
22Q11.2 Deletion Syndrome
Abnormality of the tonsils, Splenomegaly, Cryptorchidism, Obesity, Hypoplasia of the thymus, Chol... ORPHA:567
Reynolds Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Biliary cirrhosis, Cholestasis, Lymphopenia OMIM:613471
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Obesity OMIM:618493
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Decreased circulating IgG level, Decreased circulating IgA level OMIM:212065
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:77261
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Obesity, Abnormality of the liver, Hypogonadism, Annul... ORPHA:1606
Autosomal Recessive Polycystic Kidney Disease
Cholangiocarcinoma, Cholangitis, Portal hypertension, Hypersplenism, Splenomegaly, Biliary hyperp... ORPHA:731
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Decreased fertility in females, Splenomegaly, Cirrhosis, Hepati... OMIM:608594
Scleromyxedema
Paraproteinemia ORPHA:167635
Al Amyloidosis
Howell-Jolly bodies, Increased circulating antibody level, Anemia ORPHA:85443
Distal Deletion 12Q
Failure to thrive in infancy, Unilateral cryptorchidism, Biliary atresia, Obesity, Congenital hyp... ORPHA:96149
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Failure to thrive, Severe B lymphocytopenia, Biliary hyperplasia, Cryptorchidism, B... ORPHA:83617
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Increased circulating IgE level OMIM:615508
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased circulating IgE... ORPHA:37042
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Decreased circulating IgA level, Decreased circulating antibody ... OMIM:617062
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity OMIM:219080
Aapoaiv Amyloidosis
Paraproteinemia ORPHA:439232
Neutral Lipid Storage Myopathy
Hepatomegaly, Chronic pancreatitis, Obesity, Cholecystitis, Hepatic steatosis ORPHA:98908
Autosomal Recessive Spastic Paraplegia Type 11
Overweight, Obesity ORPHA:2822
Craniopharyngioma
Hypogonadism, Hypogonadotropic hypogonadism, Obesity ORPHA:54595
Primary Sjögren Syndrome
Normocytic anemia, Decreased proportion of CD4-positive helper T cells, Decreased circulating ant... ORPHA:289390
Trichothiodystrophy 1, Photosensitive
Decreased circulating IgG level OMIM:601675
3Q29 Microduplication Syndrome
Obesity ORPHA:251038
Digeorge Syndrome
Splenomegaly, Thrombocytopenia, Obesity, Hydrocele testis, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Riddle Syndrome
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level ORPHA:420741
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Oligomenorrhea, Obesity ORPHA:79444
Japanese Encephalitis
Increased circulating IgM level, Neutrophilia, Increased circulating antibody level ORPHA:79139
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Obesity ORPHA:177907
Intellectual Developmental Disorder, Autosomal Dominant 29
Cryptorchidism, Obesity OMIM:616078
45,X/46,Xy Mixed Gonadal Dysgenesis
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... ORPHA:1772
White-Sutton Syndrome
Obesity ORPHA:468678
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Cryptorchidism, Jaundice, Hypogonadism, Obesity OMIM:614231
Dubowitz Syndrome
Acute lymphoblastic leukemia, Decreased circulating IgG level, Aplastic anemia, Decreased circula... OMIM:223370
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Enteroviral hepatitis, Prostatitis, Absent circulating B cells OMIM:307200
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Increased circulating antibody level OMIM:606002
7Q11.23 Microduplication Syndrome
Cryptorchidism, Obesity ORPHA:96121
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, T lymphocytopenia, B lymphocytopeni... OMIM:251260
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Oligomenorrhea, Obesity ORPHA:79443
Viss Syndrome
Increased circulating IgG level, Increased circulating IgE level, Hypereosinophilia, Decreased ci... OMIM:619472
Lysinuric Protein Intolerance
Thrombocytopenia, Decreased circulating antibody level, Hepatosplenomegaly, Abnormality of humora... ORPHA:470
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Truncal obesity, Obesity ORPHA:466950
Desbuquois Dysplasia 2
Truncal obesity OMIM:615777
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Leukocytosis, Abdominal obesity, Hypoplasia of the ovary, Hepatic steatosis, Decreased testicular... OMIM:619321
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Obesity ORPHA:369837
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Cryptorchidism, Obesity OMIM:618653
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Overweight, Abnormal abdomen morphology, Jaundice, Obesity, Decreased body weight, Failure to thr... OMIM:619475
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Failure to thrive, Truncal obesity, Obesity OMIM:615873
Rubinstein-Taybi Syndrome 1
Accessory spleen, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Truncal ob... OMIM:180849
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Obesity OMIM:250420
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Throm... OMIM:615846
Meningioma
Impotence, Hypogonadotropic hypogonadism, Obesity, Amenorrhea ORPHA:2495
Kabuki Syndrome
Cryptorchidism, Failure to thrive, Obesity ORPHA:2322
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Biliary cirrho... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Biliary cirrho... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Biliary cirrho... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, Female infertility, Biliary cirrho... ORPHA:881
17Q24.2 Microdeletion Syndrome
Truncal obesity, Failure to thrive in infancy, Secondary amenorrhea ORPHA:529962
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Failure to thrive, Obesity ORPHA:369950
Combined Oxidative Phosphorylation Deficiency 15
Obesity OMIM:614947
Chronic Thromboembolic Pulmonary Hypertension
Myeloproliferative disorder, Obesity ORPHA:70591
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Neutrophilia in presence of infection, Leukopenia, Increased circul... ORPHA:99826
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Trichinellosis
Increased circulating IgE level ORPHA:863
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Truncal obesity OMIM:210720
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Obesity ORPHA:466943
Myhre Syndrome
Cryptorchidism, Small for gestational age, Obesity OMIM:139210
Cysticercosis
Increased circulating antibody level ORPHA:1560
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Sarcoidosis, Susceptibility To, 1
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia OMIM:181000
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Obesity OMIM:619269
1P21.3 Microdeletion Syndrome
Obesity ORPHA:293948
White-Kernohan Syndrome
Obesity OMIM:619426
Adnp Syndrome
Cryptorchidism, Truncal obesity ORPHA:404448
Carney Complex
Neoplasm of the pancreas, Sertoli cell neoplasm, Testicular neoplasm, Increased body weight, Test... ORPHA:1359
Gaucher Disease
Pancytopenia, Splenomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia ORPHA:355
Xq21 Microdeletion Syndrome
Obesity ORPHA:1435
Yellow Fever
Increased circulating interleukin 6 concentration, Neutrophilia, Leukocytosis, Increased circulat... ORPHA:99829
Williams Syndrome
Death in early adulthood, Failure to thrive in infancy, Hypogonadotropic hypogonadism, Cardiomega... ORPHA:904
6Q Terminal Deletion Syndrome
Failure to thrive, Obesity ORPHA:75857
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Obesity ORPHA:444077
Alström Syndrome
Decreased testicular size, Hepatomegaly, Hypergonadotropic hypogonadism, Portal hypertension, Tes... ORPHA:64
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Failure to thrive, Obesity ORPHA:353281
Carpenter Syndrome 2
Bilateral cryptorchidism, Cryptorchidism, Obesity OMIM:614976
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Failure to thrive, Obesity OMIM:617157
Simpson-Golabi-Behmel Syndrome
Splenomegaly, Increased circulating IgE level, Polysplenia ORPHA:373
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Cryptorchidism, Failure to thrive, Obesity ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Cryptorchidism, Failure to thrive, Obesity ORPHA:353277
Tako-Tsubo Cardiomyopathy
Obesity ORPHA:66529
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Cryptorchidism, Hypogonadism, Decreased testicular size, Obesity OMIM:309580
Monosomy 22Q13.3
Obesity ORPHA:48652
Witteveen-Kolk Syndrome
Small for gestational age, Unilateral cryptorchidism, Obesity OMIM:613406
Williams-Beuren Syndrome
Failure to thrive in infancy, Obesity, Portal hypertension OMIM:194050
Chromosome 1P36 Deletion Syndrome, Distal
Cryptorchidism, Obesity OMIM:607872
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Obesity ORPHA:293987
Cornelia De Lange Syndrome
Cryptorchidism, Failure to thrive, Truncal obesity, Primary amenorrhea ORPHA:199
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncal obesity, Failure to thrive OMIM:612474
Ulnar-Mammary Syndrome
Obesity OMIM:181450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Decreased circulating IgG level, Secretory IgA deficiency ORPHA:500150
Primrose Syndrome
Bilateral cryptorchidism, Cryptorchidism, Hypergonadotropic hypogonadism, Truncal obesity OMIM:259050
Pallister-Killian Syndrome
Cryptorchidism, Stillbirth, Obesity OMIM:601803

Histopathology

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

There is no histopathology data for B3gnt5

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 B3gnt5.

No publications found that use IMPC mice or data for B3gnt5.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
B3gnt5tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
B3gnt5tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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