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Gene: Gsg1l MGI:2685483

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Gene Summary

Name:
GSG1-like
Synonyms:
G630023A01Rik,  C230098I05Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal eye morphology Gsg1lem1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
hyperactivity Gsg1lem1(IMPC)J HOM   Early adult 5.75×10-05
abnormal lymph node morphology Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
anophthalmia Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
abnormal ovary morphology Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
abnormal eye morphology Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
enlarged lymph nodes Gsg1lem1(IMPC)Mbp HOM Late adult 0.00
decreased bone mineral density Gsg1lem1(IMPC)Mbp HOM Late adult 1.02×10-06
decreased bone mineral content Gsg1lem1(IMPC)Mbp HOM Late adult 1.12×10-05
enlarged spleen Gsg1lem1(IMPC)Mbp HOM Late adult 0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

40 Images

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X-ray

XRay Images Whole Body Dorso Ventral

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

34 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

20 Images

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X-ray

XRay Images Forepaw

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Gsg1l 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 Gsg1l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Abnormal lymph node morphology OMIM:136580
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Asperger Syndrome, Susceptibility To, 1
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines OMIM:608631
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Hepatic Venoocclusive Disease With Immunodeficiency
Abnormality of the liver, Absence of lymph node germinal center OMIM:235550
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Hereditary Progressive Mucinous Histiocytosis
Mucinous histiocytosis, Lymphadenopathy ORPHA:158025
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Anemia, Abnormal bone structure ORPHA:46532
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Jaundice, Anemia, Lymphadenopathy OMIM:312500
Immunodeficiency 38 With Basal Ganglia Calcification
Lymphadenopathy OMIM:616126
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia ORPHA:60026
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Anemia ORPHA:100024
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli... OMIM:619126
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Tyrosinemia Type 1
Splenomegaly, Rickets of the lower limbs, Hepatocellular carcinoma, Hepatomegaly ORPHA:882
Kerion Celsi
Lymphadenopathy ORPHA:499
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Burkitt Lymphoma
Abnormality of the spleen, Abnormality of the pancreas, Abnormal lymph node morphology, Abnormali... ORPHA:543
Immunodeficiency 104
Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Bicornuate uterus, Cryptorchidism OMIM:615524
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Abnormal cortical bone morphology, Craniofacial hyperostosis, Anemia ORPHA:1802
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph... OMIM:612840
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion OMIM:183350
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abn... ORPHA:2470
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Unilateral microphthalmos, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Rosaï-Dorfman Disease
Osteolysis, Anemia, Lymphadenopathy ORPHA:158014
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Lymphadenopathy OMIM:617772
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthri... ORPHA:37748
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia ORPHA:482
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Abnormal cortical bone morphology, Hepatomegaly ORPHA:2204
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul... ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Recurrent fractures, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Nodul... ORPHA:319487
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Osteoporosis, Lymphadenopathy, Increased proportion of CD25+ mast cel... ORPHA:98848
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:86893
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Hyperparathyroidism, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Lymphocytosis, Hepatomegaly OMIM:606445
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... ORPHA:79301
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Alpha-Heavy Chain Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i... OMIM:619220
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy OMIM:618261
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutro... OMIM:603552
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Arthritis, Lymphadenopathy ORPHA:42642
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Recurrent fractures, Hepatomegaly ORPHA:417
Encephalopathy Due To Prosaposin Deficiency
Splenomegaly, Hepatomegaly ORPHA:139406
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia, Enlarged kidney OMIM:613885
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Cryptorchidism OMIM:164180
Hyperbilirubinemia, Shunt, Primary
Hepatomegaly, Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:239500
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Joint hyperflexibility, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior OMIM:301107
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Microphthalmia, Ascites,... ORPHA:858
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Proteus Syndrome
Splenomegaly, Facial hyperostosis, Calvarial hyperostosis, Lymphangioma, Mandibular hyperostosis,... OMIM:176920
Immunodeficiency 27B
Generalized lymphadenopathy, Salmonella osteomyelitis, Osteomyelitis OMIM:615978
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S... OMIM:602450
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ... OMIM:209950
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
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy OMIM:618982
Immunodeficiency With Hyper-Igm, Type 4
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Absence of lymph node ge... OMIM:608184
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Reticulocytosis, Increased bone mineral density, Recurrent fractures, Splenomegaly,... OMIM:611490
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia OMIM:613101
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Pancytopenia, Hemolytic anemia, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp... OMIM:619846
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Arthritis, Lymphadenopathy OMIM:611762
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy ORPHA:157991
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g... OMIM:619924
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Splenomegaly, Flexion contracture, Hypogonadism, Joint contracture OMIM:608540
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Intermittent jaundice, Reticulocytosis OMIM:179700
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Hepatomegaly OMIM:616622
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Immunodeficiency 84
Splenomegaly, B lymphocytopenia OMIM:619437
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Immunodeficiency 48
Absence of CD8-positive T cells, Splenomegaly, Hepatomegaly OMIM:269840
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Hip contracture, Generalized lymphadenopathy, Ankle flexion contracture, Reduced bone mineral den... OMIM:620232
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Calvarial hype... OMIM:612714
Fish-Eye Disease
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:79292
Galactose Epimerase Deficiency
Splenomegaly, Jaundice, Hepatomegaly ORPHA:79238
Laryngeal Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess ORPHA:100083
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, O... ORPHA:98850
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, ... OMIM:610125
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Arthritis, B lymphocytopenia ORPHA:397596
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Joint stiffness, Splenomegaly, Reduced bone mineral density, Leukopenia, Lymphopeni... OMIM:620210
Trisomy 13
Anophthalmia, Displacement of the urethral meatus, Cryptorchidism, Aplasia/Hypoplasia of the iris... ORPHA:3378
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lympho... OMIM:301078
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunodeficiency, Common Variable, 2
Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Gonadal dysg... ORPHA:206484
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Testicular neoplasm, Medi... ORPHA:83469
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio OMIM:618495
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618987
Hemochromatosis, Type 2A
Hepatomegaly, Hypogonadotropic hypogonadism, Splenomegaly, Arthritis, Azoospermia, Cirrhosis OMIM:602390
Galactosemia Iii
Splenomegaly, Jaundice, Hepatomegaly OMIM:230350
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Hypogonadism, Cirrhosis, Anemia OMIM:613313
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Anencephaly 2
Anophthalmia OMIM:619452
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Sp... OMIM:228000
Immunodeficiency 109 With Lymphoproliferation
Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells OMIM:620282
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymphatic system, Ab... ORPHA:54251
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Immunodeficiency 54
Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ... OMIM:609981
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, Intermitte... OMIM:150550
Niemann-Pick Disease, Type A
Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Osteoporosis, Lymphadenopa... OMIM:257200
Cholestasis, Progressive Familial Intrahepatic, 12
Splenomegaly, Jaundice, Cholestasis, Hepatomegaly OMIM:620010
Immunodeficiency With Hyper-Igm, Type 3
Neutropenia, Absence of lymph node germinal center OMIM:606843
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia, Cryptorchidism, Flexion contracture, Male hypogonadism ORPHA:90322
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:2584
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Multilobulated spleen, Hypoplasia of the ... OMIM:601186
Hydrolethalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:2189
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H... OMIM:615122
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Gaucher Disease Type 2
Splenomegaly, Flexion contracture, Hepatomegaly ORPHA:77260
Beta-Thalassemia Intermedia
Osteopenia, Extramedullary hematopoiesis, Reduced bone mineral density, Abnormality of the liver,... ORPHA:231222
Caspase 8 Deficiency
Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy OMIM:607271
Ovarian Fibroma
Mesenteric cyst, Ovarian fibroma, Peritonitis, Gonadal calcification, Ascites, Abnormality of the... ORPHA:314473
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
B-Cell Expansion With Nfkb And T-Cell Anergy
Splenomegaly, Increased B cell count OMIM:616452
Cold Agglutinin Disease
Hepatomegaly, Splenomegaly, Hemolytic anemia, Lymphadenopathy ORPHA:56425
Immunodeficiency, Common Variable, 1
Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo... OMIM:607594
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Splenomegaly, Juvenile rheumatoid arthritis, Lymphadenopathy ORPHA:85414
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Anemia, Congenital Dyserythropoietic, Type Ib
Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Sialidosis Type 2
Hepatomegaly, Splenomegaly, Flexion contracture, Osteoporosis, Ascites ORPHA:87876
Cinca Syndrome
Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Arthritis, Anemia OMIM:607115
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:601859
Microphthalmia With Limb Anomalies
Anophthalmia, Unilateral cryptorchidism, Capitate-hamate fusion, 4-5 metacarpal synostosis, Campt... OMIM:206920
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Felty Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Limitation of joint mobility, Osteolysis, Synovitis... ORPHA:47612
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Ascites, Lymphadenopathy ORPHA:26790
Myelofibrosis
Myelofibrosis, Splenomegaly, Myeloproliferative disorder OMIM:254450
Fibular Hemimelia
Joint laxity, Decreased hip abduction, Anophthalmia, Craniosynostosis, Joint stiffness, Limitatio... ORPHA:93323
Immunodeficiency 10
Hypoplasia of the iris, Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy OMIM:612783
Proteasome-Associated Autoinflammatory Syndrome 4
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Flexion contracture, Lymphadenopathy OMIM:619183
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Azoospermia, Hypogonadism, Poikilo... OMIM:615234
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Cryptorchidism, Microphthalmia ORPHA:77298
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ... ORPHA:277
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph... ORPHA:507
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy, Pituitary null ... ORPHA:97289
Hurler-Scheie Syndrome
Splenomegaly, Limitation of joint mobility, Abnormality of the tonsils, Hepatomegaly ORPHA:93476
Hemochromatosis, Type 1
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Osteoporosis, Azoospermi... OMIM:235200
Roifman Syndrome
Hip contracture, Hypogonadotropic hypogonadism, Eosinophilia, Delayed proximal femoral epiphyseal... ORPHA:353298
Nephroblastoma
Aniridia, Neoplasm of the liver, Lymphadenopathy ORPHA:654
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F... OMIM:603909
Cerebrooculonasal Syndrome
Hypoplasia of penis, Anophthalmia ORPHA:66625
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Fulminant hepatitis, Lymphadenopathy, ... OMIM:308240
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy ORPHA:50251
Thrombocythemia 1
Splenomegaly, Thrombocytosis OMIM:187950
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Splenomegaly, Jaundice, Acholic stools, Portal fibrosis OMIM:619868
Trisomy 1Q
Anophthalmia, Small scrotum, Camptodactyly of finger, Cryptorchidism, Ambiguous genitalia ORPHA:261344
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Recurrent hand flapping, Self-mutilation, Aggressive behavior OMIM:615516
Meckel Syndrome
Accessory spleen, Anophthalmia, Pancreatic fibrosis, True hermaphroditism, Asplenia, Congenital h... ORPHA:564
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Tetragametic Chimerism
Bifid scrotum, Blood group antigen abnormality, True hermaphroditism, Ovotestis, Cryptorchidism, ... ORPHA:199310
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Splenomegaly, Leuk... ORPHA:824
Congenital Disorder Of Glycosylation, Type Iio
Hepatomegaly, Splenomegaly, Copper accumulation in liver, Hepatosplenomegaly, Cholestatic liver d... OMIM:616828
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Splenomegaly, Reduced red cell py... ORPHA:766
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia, Cryptorchidism ORPHA:139471
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit... OMIM:614034
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Cinca Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Reduced bo... ORPHA:1451
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Thrombocytosis, Anemia of ... ORPHA:75564
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Amyloidosis, Familial Visceral
Splenomegaly, Cholestasis, Hepatomegaly OMIM:105200
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Rickets, Ac... OMIM:607765
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Leu... ORPHA:381
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Ovarian Fibrothecoma
Ovarian fibroma, Peritonitis, Abnormal endometrium morphology, Gonadal calcification, Ascites, Ab... ORPHA:314478
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop... OMIM:616100
Free Sialic Acid Storage Disease
Reduced bone mineral density, Splenomegaly, Ascites, Hepatomegaly ORPHA:834
Tularemia
Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy, Mediastinal l... ORPHA:3392
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... OMIM:619802
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, Lymphad... OMIM:618935
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Hepatomegaly, Decreased proportion of naive T cells, Jaundice, Lymph node hypoplasia, Abnormally ... ORPHA:276
Histidinemia
Hyperactivity ORPHA:2157
Roifman Syndrome
Hepatomegaly, Hip contracture, Eosinophilia, Splenomegaly, Lymphadenopathy OMIM:616651
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... OMIM:259700
Glycogen Storage Disease Ixb
Splenomegaly, Increased hepatic glycogen content, Hepatomegaly OMIM:261750
Papa Syndrome
Arthritis, Limitation of joint mobility, Lymphadenopathy ORPHA:69126
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Cholesteryl Ester Storage Disease
Splenomegaly, Jaundice, Cirrhosis, Hepatomegaly ORPHA:75234
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Joint stiffness, Cardiomegaly, Splenomegaly, Dense calvaria OMIM:252920
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia,... ORPHA:86843
Walker-Warburg Syndrome
Microphthalmia, Hypoplasia of penis, Anophthalmia, Cryptorchidism ORPHA:899
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Increased mean platelet volu... OMIM:314050
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hemophagocytosis, Neutr... ORPHA:158061
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... ORPHA:85212
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Splenomegaly, Hepatic steatosis, Hepatosplenomegaly OMIM:612526
Essential Thrombocythemia
Myelofibrosis, Splenomegaly, Abnormal platelet morphology, Acute leukemia ORPHA:3318
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia, Foot joint contracture, Cryptorchidism, Male hypogonadism, Anemia ORPHA:90321
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Hypoplasia of the iris, Thrombocyt... ORPHA:169090
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy ORPHA:99978
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Anophthalmia, Abnormality of the spleen, Perineal fistula, Rectovaginal fistula, Mi... ORPHA:2538
Neuraminidase Deficiency
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Epiphys... OMIM:256550
Sézary Syndrome
Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy ORPHA:3162
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Absent peripheral lymph nodes in presence of infection, Increased T cell count, Incre... ORPHA:98813
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Castleman Disease
Myelofibrosis, Generalized lymphadenopathy, Abdominal mass, Follicular hyperplasia, Mediastinal l... ORPHA:160
Rhabdoid Tumor
Neoplasm of the liver, Thrombocytopenia, Anemia, Lymphadenopathy ORPHA:69077
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Abnormal liver parenchyma morphology, Lymphadenopathy, Pheochromocyt... ORPHA:1332
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne... OMIM:613179
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Anophthalmia, Hypogonadotropic hypogonadism, Optic nerve h... OMIM:206900
Progressive Supranuclear Palsy
Depression, Abnormal synaptic transmission ORPHA:683
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Splenomegaly, Periostitis, Osteolysis, Fus... OMIM:612852
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Osteopetrosis, Hepatomegaly OMIM:618541
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Decreased hemoglobin concentration, Reticulocytosis, Reduced red cell pyruvate kina... OMIM:266200
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Hypersplenism, Splenomegaly, Port... ORPHA:64743
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade... ORPHA:169154
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Abnormality of the spleen, Cryptorchidism, Joint hyperflexibil... ORPHA:2162
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Omenn Syndrome
Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp... ORPHA:39041
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis ORPHA:59303
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, A... ORPHA:829
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Osteomyelitis, Congenital hypoplastic anemia, Splen... ORPHA:77297
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T... OMIM:619644
Mucopolysaccharidosis, Type Iiia
Splenomegaly, Dense calvaria, Joint stiffness, Hepatomegaly OMIM:252900
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Thyroid Lymphoma
Goiter, Lymphadenopathy ORPHA:97285
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Mixed Connective Tissue Disease
Hemolytic anemia, Hepatomegaly, Joint stiffness, Splenomegaly, Mediastinal lymphadenopathy, Osteo... ORPHA:809
Harderoporphyria
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice OMIM:618892
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Hepatic cysts, Eosinophilia, Abnormality of the tes... ORPHA:400
Middle Ear Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy ORPHA:100084
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Lymphadenopathy, Hepatosplenomegal... ORPHA:1333
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Thrombocytopenia, Flexion contracture, Lymphadenopathy, Arthritis, Ly... OMIM:617591
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lymphocytosis... ORPHA:79456
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly OMIM:619750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ... OMIM:618986
Gray Platelet Syndrome
Myelofibrosis, Splenomegaly, Thrombocytopenia, Abnormal number of alpha granules OMIM:139090
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Thrombocytopenia, Hepatitis, Lymphadenopathy, Arthriti... OMIM:304790
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233710
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Flexion contracture of finger, Hypergonadotropic hypogonadism, Camptodactyly of fin... OMIM:602782
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Glycogen Storage Disease Ixa1
Splenomegaly, Hepatomegaly OMIM:306000
Cyclic Neutropenia
Cyclic neutropenia, Cervical lymphadenopathy, Recurrent tonsillitis, Peritonitis, Lymphadenopathy... ORPHA:2686
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia, Hepatomegaly ORPHA:163596
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Lymphadenopathy, Sclerosis of skull base, Hypogon... ORPHA:2905
Joubert Syndrome 21
Splenomegaly, Anophthalmia OMIM:615636
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogonadism, Mic... ORPHA:2250
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato... ORPHA:85450
Vacterl With Hydrocephalus
Cryptorchidism, Microphthalmia, Anophthalmia, Abnormal fallopian tube morphology ORPHA:3412
Elliptocytosis 1
Splenomegaly, Jaundice, Hemolytic anemia, Elliptocytosis OMIM:611804
Squamous Cell Carcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424019
Kaposiform Lymphangiomatosis
Pancreatic cysts, Splenomegaly, Thrombocytopenia, Abnormality of the lymphatic system, Fractures ... ORPHA:464329
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormally large globe, Splenomegaly, Pancreatic lymphangiectasis, Cryptorchidism, ... ORPHA:1655
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Limitation of joint mobility, Lymphadenopathy, Arthritis ORPHA:343
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Hepatomegaly, Reticulocytosis, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Boutonneuse Fever
Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy ORPHA:83313
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:233690
Functioning Gonadotropic Adenoma
Osteopenia, Macroorchidism, postpubertal, Decreased response to growth hormone stimulation test, ... ORPHA:91348
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton... OMIM:308230
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Precocious puberty, Microphthalmia, Anophthalmia, Hypospadias OMIM:615877
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy ORPHA:33276
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Hypogonadotropic hypogonadism, Portal hypertension, Cardiomegal... ORPHA:465508
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel... OMIM:618048
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Abnormality ... ORPHA:91138
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... OMIM:226990
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Lymphadenopathy ORPHA:142
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Fraser Syndrome 1
Anophthalmia, Hypospadias, Cryptorchidism, Bilateral microphthalmos, Abnormal thymus morphology, ... OMIM:219000
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:3386
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T... OMIM:214500
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Hypoplasia of penis, Cryptorchidism, Leukocytosis, Acute leukemia, Ly... ORPHA:99812
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Splenomegaly, Thrombocy... OMIM:278000
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Cerebrooculonasal Syndrome
Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Hypoplastic male external genitalia OMIM:605627
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Anemia, Hepatomegaly OMIM:620296
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Osteopenia, Hepatomegaly, Portal hypertension, Sagittal craniosynostosis, Pancreatic cysts, Splen... OMIM:610199
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Joint stiffness, Knee osteoarthritis, Flexion contracture, Oligoarthritis, Synovitis, Lymphadenop... ORPHA:85408
H Syndrome
Recurrent fractures, Microcytic anemia, Osteolysis, Lymphadenopathy, Hepatosplenomegaly, Azoosper... ORPHA:168569
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Hyper... ORPHA:2969
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Macroorchidism, Osteomalacia, Recurrent fractures,... ORPHA:562
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Cryptorchidism, Anophthalmia, Camptodactyly of finger ORPHA:1101
Agammaglobulinemia, X-Linked
Hepatocellular carcinoma, Enteroviral hepatitis, Epididymitis, Lymph node hypoplasia, T lymphocyt... OMIM:300755
Graft Versus Host Disease
Dupuytren contracture, Limited elbow movement, Jaundice, Stiff interphalangeal joints, Limited sh... ORPHA:39812
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto... OMIM:230800
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Beta-Thalassemia Major
Hypoparathyroidism, Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemogl... ORPHA:231214
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Ascites ORPHA:36412
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Pancreatoblastoma
Jaundice, Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Portal hypertension, Absence of lymph node... ORPHA:79124
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Splenic infarction, Jaundice, Leukocy... OMIM:603903
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Cutaneous Mastocytoma
Lymphadenopathy ORPHA:79455
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Cholestatic liver diseas... ORPHA:540
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Satoyoshi Syndrome
Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the ovary, Abnormality of the u... ORPHA:3130
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Hyper-Igd Syndrome
Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Art... OMIM:260920
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Hepatosple... OMIM:603553
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatomegaly, Abnormal erythrocyte enzyme level, Splenomegaly, Osteoporosis, Hepatocellular adeno... ORPHA:264580
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Splenomegaly, Abnormally ossified vertebrae ORPHA:3035
Farber Disease
Intrahepatic cholestasis with episodic jaundice, Thrombocytopenia, Flexion contracture, Osteoporo... ORPHA:333
Lymphatic Filariasis
Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Hypereosinophilia, Knee osteoarthri... ORPHA:2035
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypogonadotropic hypogonadism, Cryptorchidism, Micropenis, Abnormali... ORPHA:138
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Thrombocytopenia, Jaundice, Lymphadenopathy, Leukopenia, Hemophagocyt... OMIM:267700
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis OMIM:618042
Hereditary Spherocytosis
Hepatomegaly, Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Osteoporosis, Hepatocellular adenoma, Polycystic ovaries, Hepatic fib... ORPHA:79240
Multiple Myeloma
Osteopenia, Splenomegaly, Lymphadenopathy, Pathologic fracture, Anemia ORPHA:29073
Legionnaires Disease
Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Bone marrow hypocellularity, Lymphopenia, Pan... ORPHA:549
Immunodeficiency 36 With Lymphoproliferation
Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Decreased proportion of naive CD8 T c... OMIM:616005
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Periodic Fever, Familial, Autosomal Dominant
Hepatomegaly, Cervical lymphadenopathy, Hepatic amyloidosis, Oligoarthritis OMIM:142680
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem... ORPHA:514
Scheie Syndrome
Splenomegaly, Limitation of joint mobility, Joint stiffness, Hepatomegaly ORPHA:93474
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Anophthalmia, Hypospadias, Epispadias, Male pseudohermaphroditism, Abn... ORPHA:2556
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Cholestasis, Lymphadenopathy, Hepatic fi... OMIM:615895
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Microvesicular hepatic steatos... OMIM:619418
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Small scrotum, Anterior pituitary hypoplasia, Cryptorchidism ORPHA:264200
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Thrombocytopen... OMIM:610377
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Elevated circulating growth hormone concentration, Splenomegaly, Lim... ORPHA:2796
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaire... OMIM:306400
Fraser Syndrome
Hypoplasia of penis, Anophthalmia, Small scrotum, Hypospadias, Cryptorchidism, Bicornuate uterus,... ORPHA:2052
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Familial Tumoral Calcinosis
Hyperostosis, Splenomegaly, Hepatomegaly ORPHA:53715
Müllerian Aplasia And Hyperandrogenism
Hypoplasia of the uterus, Abnormal vagina morphology, Abnormality of the ovary ORPHA:247768
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Cholestasis, Sclerosing cholangitis, H... OMIM:607626
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia ORPHA:520
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Neutropenia, Osteoporosis, Gout, Hepatocellular ... OMIM:232220
Sting-Associated Vasculopathy, Infantile-Onset
Follicular hyperplasia, Joint stiffness, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis... OMIM:615934
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Cholelithiasis, J... OMIM:263700
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen... ORPHA:50918
Charge Syndrome
Hypoparathyroidism, Anophthalmia, Hypogonadotropic hypogonadism, Decreased response to growth hor... OMIM:214800
Polycythemia Vera
Myelofibrosis, Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leu... ORPHA:729
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Chronic Granulomatous Disease
Hepatomegaly, Liver abscess, Abnormality of neutrophils, Splenomegaly, Mediastinal lymphadenopathy ORPHA:379
Microphthalmia, Syndromic 2
Anophthalmia, Hypospadias, Septate vagina, Cryptorchidism, Flexion contracture, Radioulnar synost... OMIM:300166
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Lymphadenopathy, Leukopenia, Arthritis, Microangiopathic hemolytic anemia, Ascites, ... ORPHA:93552
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-b... ORPHA:3261
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Microphthalmia, Leukemia, Anophthalmia ORPHA:2526
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Recurrent fractures, Craniosynostosis, Splenomegaly, Reduced bone mineral density, ... ORPHA:667
Q Fever
Hepatomegaly, Osteomyelitis, Splenomegaly, Thrombocytopenia, Hepatitis, Lymphadenopathy, Hepatosp... ORPHA:781
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy OMIM:617099
Cutaneous Neuroendocrine Carcinoma
Lymphoid leukemia, Chronic noninfectious lymphadenopathy ORPHA:79140
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Adrenal hyperplasia, Flexion contracture, Abnormal ovarian morphology, Microp... ORPHA:95699
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Pancytopenia, Portal hypertension, Splenomegaly, Leukocytosis, Lymphadenopathy, Hep... OMIM:615688
Microphthalmia With Limb Anomalies
Tarsal synostosis, Cryptorchidism, Joint hyperflexibility, Camptodactyly of 2nd-5th fingers, Micr... ORPHA:1106
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Abnormality of the ... ORPHA:1572
Spondyloenchondrodysplasia With Immune Dysregulation
Autoimmune thrombocytopenia, Lymphadenopathy, T lymphocytopenia, Sclerosis of skull base, Rheumat... OMIM:607944
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Hepatomegaly, Splenomegaly, Osteopetrosis, Anemia OMIM:612301
Carney Triad
Mediastinal lymphadenopathy, Lymphadenopathy, Pheochromocytoma, Ascites, Anemia ORPHA:139411
Coccidioidomycosis
Abnormal sperm morphology, Osteomyelitis, Eosinophilia, Abnormality of the spleen, Mediastinal ly... ORPHA:228123
Sitosterolemia 1
Reticulocytosis, Splenomegaly, Thrombocytopenia, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Acute Generalized Exanthematous Pustulosis
Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia ORPHA:293173
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Branchiooculofacial Syndrome
Anophthalmia, Hypospadias, Supernumerary nipple, Cryptorchidism, Elbow flexion contracture, Dupli... OMIM:113620
Waldenström Macroglobulinemia
Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia ORPHA:33226
Focal Dermal Hypoplasia
Joint laxity, Anophthalmia, Supernumerary nipple, Cryptorchidism, Clitoral hypoplasia, Hypoplasti... OMIM:305600
Brucellosis
Hepatomegaly, Liver abscess, Osteomyelitis, Hypersplenism, Splenomegaly, Leukocytosis, Thrombocyt... ORPHA:1304
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Familial Mediterranean Fever
Orchitis, Splenomegaly, Peritonitis, Osteoarthritis, Lymphadenopathy, Arthritis, Ascites, Pancrea... ORPHA:342
Lipodystrophy, Congenital Generalized, Type 1
Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Splenomegaly, Labial hypertrophy, ... OMIM:608594
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Cranial hyperostosis OMIM:612918
Primary Sclerosing Cholangitis
Osteopenia, Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension... ORPHA:171
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy OMIM:617827
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphocytosis, Lymphadenopathy ORPHA:139402
Acute Interstitial Pneumonia
Reduced hematocrit, Lymphadenopathy ORPHA:79126
Chikungunya
Joint stiffness, Periostitis, Cervical lymphadenopathy, Osteolysis, Synovitis, Enthesitis, Lympha... ORPHA:324625
Malt Lymphoma
Mediastinal lymphadenopathy, Anemia, Lymphadenopathy ORPHA:52417
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Increased bone mineral density, Splenomegaly, Osteolysis, Increased s... ORPHA:77261
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Lymphadenopathy, Arthritis ORPHA:32960
Igg4-Related Submandibular Gland Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Prostatitis, Abnormal pancreas morphology, E... ORPHA:449432
Lipodystrophy, Congenital Generalized, Type 2
Hepatomegaly, Acute pancreatitis, Cystic angiomatosis of bone, Elevated hemoglobin A1c, Splenomeg... OMIM:269700
Parenteral Nutrition-Associated Cholestasis
Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomegaly, Jaundice, Hepatic fibrosis,... ORPHA:567983
Isolated Biliary Atresia
Hepatomegaly, Atretic gallbladder, Splenomegaly, Jaundice, Cholestasis, Acholic stools, Periporta... ORPHA:30391
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Osteomyelitis, Osteomalacia, Follicular hyperplasia, Splen... OMIM:619381
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Atypical or prolonged hepatitis, Ly... ORPHA:83471
Hennekam Syndrome
Lymphopenia, Camptodactyly of finger, Craniosynostosis, Splenomegaly, Pulmonary lymphangiectasia,... ORPHA:2136
Tangier Disease
Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Thrombocytopenia, Hepatosplenom... ORPHA:31150
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, External genital hypoplasia ORPHA:141099
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Portal hypertension, Pancreatic cysts, Splenomegaly, Periportal fibrosis, Hepatic f... OMIM:263200
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Splenomegaly, Thrombocytopenia, Vacuolated lymphocyt... ORPHA:167
Bardet-Biedl Syndrome 1
Decreased testicular size, Biliary tract abnormality, Hepatic fibrosis, Hypogonadism, Vaginal atr... OMIM:209900
Microphthalmia, Syndromic 6
Anophthalmia, Small scrotum, Female hypogonadism, Cryptorchidism, Lambdoidal craniosynostosis, Mi... OMIM:607932
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo... OMIM:617718
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Osteomyelitis, Autoimmune thrombocytopenia, Splenomegaly, Hepatitis,... ORPHA:37042
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Generalized lymphadenopathy, Neutrophilia, Cholangitis, Eosinophilia, Splenomegaly... ORPHA:3260
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Stomatocytosis, Thrombocytopenia OMIM:153670
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100080
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Autoimmune thrombocytopenia, Hypersplenism, Splenomegaly, Osteoporosis,... ORPHA:77293
Selective Igm Deficiency
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas... ORPHA:331235
Lymphangioleiomyomatosis
Abnormality of the lymphatic system, Abnormal morphology of female internal genitalia, Lymphadeno... ORPHA:538
Hyperlipoproteinemia, Type Id
Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly OMIM:615947
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Cholestasis, Hilar lymph node enlargement OMIM:620233
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy ORPHA:100082
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Parotitis, Eosinophilia, Portal hypertension, Abnormal reproducti... ORPHA:797
Adenocarcinoma Of The Anal Canal
Neoplasm of the liver, Lymphadenopathy ORPHA:424016
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Acute pancreatitis, Neutrophilia, Pancytopenia, Stiff neck, Parotitis, Orchitis, Sp... ORPHA:99827
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Parotitis, Camptodactyly of finger, Microcytic anemia, Cardiomegaly, Splenomegaly, ... OMIM:256040
Primary Sjögren Syndrome
Normocytic anemia, Vaginal dryness, Chronic active hepatitis, Parotitis, Biliary cirrhosis, Lymph... ORPHA:289390
Cherubism
Submandibular lymph node enlargement OMIM:118400
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Hepatomegaly, Generalized lymphadenopathy, Pancytopenia, Splenomegaly, Thromboc... OMIM:615846
Igg4-Related Ophthalmic Disease
Eosinophilia, Cholangitis, Retroperitoneal fibrosis, Orchitis, Abnormality of the anterior pituit... ORPHA:449563
Neuroendocrine Neoplasm Of Appendix
Hepatomegaly, Ovarian neoplasm, Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormon... ORPHA:100079
Malakoplakia
Orchitis, Prostate neoplasm, Follicular hyperplasia ORPHA:556
Blau Syndrome
Camptodactyly of finger, Splenomegaly, Limitation of joint mobility, Synovitis, Lymphadenopathy, ... ORPHA:90340
Systemic Lupus Erythematosus
Hemolytic anemia, Lymphadenopathy, Leukopenia, Arthritis, Thrombocytopenia ORPHA:536
Multiple Endocrine Neoplasia Type 2
Joint laxity, Cervical neoplasm, Thyroid C cell hyperplasia, Cervical lymphadenopathy, Primary hy... ORPHA:653
Behçet Disease
Orchitis, Splenomegaly, Lymphadenopathy, Arthritis, Pancreatitis ORPHA:117
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Extrahepatic cholestasis, Lymphadenopathy ORPHA:100078
Turner Syndrome Due To Structural X Chromosome Anomalies
Osteopenia, Increased circulating gonadotropin level, Osteoporosis, Biliary cirrhosis, Reduced bo... ORPHA:99413
Turner Syndrome
Osteopenia, Increased circulating gonadotropin level, Osteoporosis, Biliary cirrhosis, Reduced bo... ORPHA:881
Mosaic Monosomy X
Osteopenia, Increased circulating gonadotropin level, Osteoporosis, Biliary cirrhosis, Reduced bo... ORPHA:99228
Monosomy X
Osteopenia, Increased circulating gonadotropin level, Osteoporosis, Biliary cirrhosis, Reduced bo... ORPHA:99226
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland... ORPHA:79078
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Igg4-Related Kidney Disease
Eosinophilia, Retroperitoneal fibrosis, Lymphadenitis, Abnormal mesentery morphology, Abnormality... ORPHA:449395
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Orchitis, Jaundice, Neutrophilia in presence of infection, Lymphade... ORPHA:99826
Kawasaki Disease
Leukocytosis, Cervical lymphadenopathy, Jaundice, Hepatitis, Arthritis, Cholecystitis ORPHA:2331
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Cryptorchidism, Camptodactyly, Microphthalmia, Joint contracture of th... OMIM:309800
Craniofacial Microsomia 1
Microphthalmia, Anophthalmia, Block vertebrae OMIM:164210
Plague
Hepatomegaly, Splenomegaly, Lymphadenitis, Enlarged mesenteric lymph node, Arthritis ORPHA:707
Leptospirosis
Hepatomegaly, Jaundice, Hepatitis, Lymphadenopathy, Thrombocytopenia ORPHA:509
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Abnormal prolactin level ORPHA:3385

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 Gsg1l

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 Gsg1l.

No publications found that use IMPC mice or data for Gsg1l.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Gsg1lem1(IMPC)J Exon Deletion Mice
Gsg1lem1(IMPC)Mbp Exon Deletion Mice, Tissue

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