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Gene: Skil MGI:106203

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Gene Summary

Name:
SKI-like
Synonyms:
sno-dE3,  SnoN,  9130011J04Rik,  SnoN2,  Skir

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
increased heart left ventricle size Skiltm1b(EUCOMM)Hmgu HOM Early adult 6.22×10-05

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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 Lateral Orientation

13 Images

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X-ray

XRay Images Skull Lateral Orientation

13 Images

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X-ray

XRay Images Forepaw

13 Images

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X-ray

XRay Images Whole Body Dorso Ventral

13 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

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Electrocardiogram (ECG)

Waveform Image

2 Images

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Human diseases caused by Skil 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 Skil by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Monocyte Chemotactic Disorder
Cutaneous anergy OMIM:252250
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Pa Polymorphism Of Alpha-2-Globulin
Abnormal immunoglobulin level OMIM:260100
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Hepatomegaly, Decreased circulating total IgM, Lymphocytosis OMIM:606445
Fetal Cytomegalovirus Syndrome
Splenomegaly, Hepatomegaly, Anemia ORPHA:294
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Diencephalic Syndrome
Neoplasm of the nervous system, Cachexia, Decreased body weight ORPHA:1672
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology OMIM:308220
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Cachexia, Ovarian neoplasm, Neoplasm of the centra... ORPHA:83469
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss ORPHA:52416
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Mulibrey Nanism
Cachexia ORPHA:2576
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Splenomegaly, Hepatomegaly, Persistence of hemoglobin F, Anemia ORPHA:46532
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Decreased lymphocyte proliferation in response to anti... OMIM:620282
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency 48
Absence of CD8-positive T cells, Hepatomegaly, Panhypogammaglobulinemia, Splenomegaly OMIM:269840
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... OMIM:614470
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Neutropenia i... OMIM:619220
Moynahan Syndrome
Cachexia ORPHA:2574
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Increased circulating antibod... ORPHA:100024
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:601859
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, ... OMIM:613101
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Hepatomegaly OMIM:619175
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Immunodeficiency, Common Variable, 1
Hepatomegaly, Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil a... OMIM:607594
Immunodeficiency 104
Splenomegaly, Hepatomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Tuberculosis
Weight loss ORPHA:3389
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Ectodermal Dysplasia With Adrenal Cyst
Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Hypereosinophilic Syndrome, Idiopathic
Splenomegaly, Hepatomegaly, Eosinophilia, Myeloproliferative disorder OMIM:607685
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Trimethylaminuria
Splenomegaly, Anemia, Neutropenia OMIM:602079
Immunodeficiency, Common Variable, 2
Hepatomegaly, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, De... OMIM:240500
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss ORPHA:100083
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, B-cell lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Liposarcoma
Weight loss, Sarcoma ORPHA:69078
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Immunodeficiency 69
Pancytopenia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Hepatomegaly, Fetal ascites OMIM:619462
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy OMIM:618852
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Mcdonough Syndrome
Cryptorchidism, Cachexia ORPHA:2471
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Portal hypertension, Splenomegaly OMIM:610293
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric lymph node, ... OMIM:209950
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hepatomegaly, Hemolytic ... OMIM:308230
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly... OMIM:615559
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Hepatomegaly, Portal hypertension OMIM:617068
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Cronkhite-Canada Syndrome
Hamartomatous polyposis, Neoplasm, Cachexia ORPHA:2930
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thr... OMIM:603552
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, D... OMIM:615122
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, A... OMIM:603909
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Increased circulating I... OMIM:618495
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Christianson Syndrome
Cachexia ORPHA:85278
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatomegaly, Hepatic fibrosis, Hepatic steatosis OMIM:614480
Schnitzler Syndrome
Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Increased circulating IgM level, Anemia ORPHA:37748
Idiopathic Achalasia
Weight loss ORPHA:930
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Primary hyperparathyroidism, Weight loss, Neoplasm of the lung, ... ORPHA:1332
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Hepatitis, Decreased circulating antib... OMIM:300635
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I... OMIM:150550
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgE, Decreased... OMIM:618394
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... ORPHA:75564
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Aredyld Syndrome
Refractory anemia with ringed sideroblasts, Cachexia ORPHA:1133
Activated Pi3K-Delta Syndrome
Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, Decreased circulating antibod... ORPHA:397596
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Galactose Epimerase Deficiency
Splenomegaly, Hepatomegaly, Jaundice ORPHA:79238
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocyt... OMIM:616100
Indolent Systemic Mastocytosis
Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos... ORPHA:98848
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Leukopenia, Decreased circulating to... OMIM:620210
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Splenomegaly, Enlarged tonsils, Chronic lymphatic leukemia, Incr... OMIM:616005
Acquired Hypertrichosis Lanuginosa
Weight loss, Ovarian neoplasm, Neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system ORPHA:2221
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocyto... OMIM:613011
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Weight loss ORPHA:2198
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Inc... OMIM:602450
Primary Myelofibrosis
Hemangioma, Cachexia, Hematological neoplasm ORPHA:824
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone... OMIM:301078
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Nephroblastoma
Neoplasm of the lung, Nephroblastoma, Neoplasm, Weight loss ORPHA:654
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... OMIM:226990
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Abnor... OMIM:612840
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Tetrasomy 12P
Cachexia ORPHA:884
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Visceral angiomatosis, Lymphoma, Hamartomatous polyposi... ORPHA:109
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Abscess, Perianal abscess, Lymphadenitis, Splenomegaly, Rec... OMIM:618935
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Chronic Hiccup
Weight loss ORPHA:396
Follicular Lymphoma
Lymphoma, Weight loss ORPHA:545
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Weight loss, Sarcoma ORPHA:69077
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Cirrhosis, Neonatal cholestatic ... ORPHA:79301
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Peritoneal Cystic Mesothelioma
Neoplasm, Weight loss ORPHA:168816
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cachexia ORPHA:220295
Isaacs Syndrome
Weight loss ORPHA:84142
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Cachexia OMIM:175500
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom... OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
19Q13.11 Microdeletion Syndrome
Cryptorchidism, Failure to thrive, Supernumerary nipple, Cachexia ORPHA:217346
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Intrahepatic cholest... OMIM:619849
Wolman Disease
Cachexia ORPHA:75233
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Malignant Peritoneal Mesothelioma
Neoplasm, Weight loss ORPHA:168811
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Thrombocytopenia ORPHA:158029
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Majeed Syndrome
Failure to thrive, Cachexia, Weight loss ORPHA:77297
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Neonatal cholestatic liver disease OMIM:214900
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... ORPHA:3226
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
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Erythrokeratodermia Variabilis
Abnormal testis morphology, Neoplasm of the skin, Weight loss ORPHA:317
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Leukocytosis, Lymphadenopathy OMIM:611762
Amyloidosis, Familial Visceral
Splenomegaly, Hepatomegaly, Cholestasis OMIM:105200
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Malignant neoplasm of the cen... ORPHA:142
Dehydrated Hereditary Stomatocytosis 2
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Cryptorchidism, Obesity, Decreased testicular size ORPHA:813
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut... OMIM:615387
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Abnormal lymphocyte m... ORPHA:3162
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Familial Colorectal Cancer Type X
Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla... ORPHA:440437
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Solitary Fibrous Tumor
Soft tissue neoplasm, Vaginal neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... ORPHA:2126
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Nijmegen Breakage Syndrome
Glioma, B-cell lymphoma, Rhabdomyosarcoma, Cachexia, Lymphoma, T-cell lymphoma, Acute leukemia, N... ORPHA:647
Kaposi Sarcoma
Lymphoproliferative disorder, Neoplasm by anatomical site, Weight loss, Neoplasm of the skin, Hem... ORPHA:33276
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Glycogen Storage Disease Ixb
Splenomegaly, Hepatomegaly, Increased hepatic glycogen content OMIM:261750
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Bone marrow hy... ORPHA:86843
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Classic Hodgkin Lymphoma
Neoplasm, Lymphoma, Weight loss ORPHA:391
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp... ORPHA:436159
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Hepatoportal Sclerosis
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... ORPHA:64743
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Obesity, Cachexia ORPHA:85293
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Rett Syndrome
Cachexia OMIM:312750
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Tropical Pancreatitis
Pancreatic adenocarcinoma, Abnormal pancreatic duct morphology, Pancreatic calcification, Weight ... ORPHA:103918
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Impaired T cell function, Pure red cell aplasia, Autoimmune thromboc... OMIM:613179
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Huntington Disease-Like 2
Weight loss OMIM:606438
Cold Agglutinin Disease
Splenomegaly, Hemolytic anemia, Lymphadenopathy, Hepatomegaly ORPHA:56425
Thymoma
Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neoplasm, Neoplasia of the pleura, ... ORPHA:99867
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Weight loss, Perip... ORPHA:370348
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Neuroblastoma, Susceptibility To, 1
Ganglioneuroblastoma, Weight loss, Neuroblastoma, Failure to thrive, Ganglioneuroma OMIM:256700
Whipple Disease
Cachexia ORPHA:3452
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Hb Bart'S Hydrops Fetalis
Splenomegaly, Hepatomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Focal Myositis
Weight loss ORPHA:48918
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Cholestasis, Decreased circulati... OMIM:300972
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Poikilocytosis, Prolonged ne... OMIM:300908
Xfe Progeroid Syndrome
Failure to thrive, Cachexia OMIM:610965
Adult-Onset Still Disease
Hepatomegaly, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis, Hepatitis, B... ORPHA:829
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereo... OMIM:617388
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
Juvenile Polyposis Of Infancy
Cachexia, Hamartomatous polyposis, Hemangioblastoma, Hemangioma, Subcutaneous lipoma ORPHA:79076
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Erythrocytosis, Familial, 1
Increased red blood cell mass, Splenomegaly, Increased hematocrit, Increased hemoglobin OMIM:133100
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Pancytopenia, Hemophagocytosis, Anemia OMIM:618398
Familial Thrombocytosis
Acute myeloid leukemia, Weight loss, Myelodysplasia, Chronic myelogenous leukemia ORPHA:71493
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto... OMIM:614700
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Weight loss ORPHA:514
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Hepatomegaly, Anemia OMIM:620296
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Myelodysplasia, Hematological neoplasm, Lymphoma, Chronic lymphatic leuke... ORPHA:98849
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Increased ... ORPHA:77259
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss OMIM:188580
Beta-Thalassemia Intermedia
Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate produ... ORPHA:231222
Autoimmune Hepatitis
Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminant hepatitis, Jaundice, Sclerosi... ORPHA:2137
Schwartz-Jampel Syndrome
Cachexia, Odontogenic neoplasm, Decreased body weight, Testicular torsion, Decreased testicular size ORPHA:800
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233710
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Juvenile Huntington Disease
Weight loss ORPHA:248111
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgG level, Lymphocytosis, Increased B cell count, Decreased circulating IgG... ORPHA:3261
Graves Disease, Susceptibility To, 1
Goiter, Weight loss OMIM:275000
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Perry Syndrome
Weight loss ORPHA:178509
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hepatomegaly, Jaundice, Intrahepatic cholestasis OMIM:235555
Pleural Mesothelioma
Weight loss ORPHA:50251
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Increased circulating antibody level, Lympho... OMIM:617591
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Anisocytosis, Anemia of inadequate production, S... OMIM:224120
Trisomy 18
Cryptorchidism, Cachexia ORPHA:3380
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:233690
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Failure to thrive in infancy, Cachexia ORPHA:37042
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphad... OMIM:260920
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Weight loss OMIM:613239
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Pfapa Syndrome
Weight loss ORPHA:42642
Bile Acid Synthesis Defect, Congenital, 1
Hepatomegaly, Giant cell hepatitis, Splenomegaly, Jaundice, Intrahepatic cholestasis, Acholic sto... OMIM:607765
X-Linked Agammaglobulinemia
Failure to thrive, Neoplasm, Weight loss ORPHA:47
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Breast carcinoma, Weight loss, Melanoma, Ovarian carcinoma ORPHA:1333
Seckel Syndrome
Cachexia ORPHA:808
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Hepatomegaly, Autoimmune hemolytic anemia, Lymphadenopathy OMIM:619183
Hereditary Orotic Aciduria
Splenomegaly, Impaired T cell function, Anemia ORPHA:30
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Cachexia, Retinal hamartoma, Neoplasm of... ORPHA:744
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Intrahepatic cholestasis, Splenomegaly, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Cholecystitis, Cirrhosis,... ORPHA:131
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Vaginal neoplasm, Esoph... ORPHA:1018
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Aggressive Systemic Mastocytosis
Leukemia, Weight loss, Hematological neoplasm ORPHA:98850
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Weight loss, Adrenal pheochromocyt... ORPHA:276621
Benign Recurrent Intrahepatic Cholestasis
Cholelithiasis, Weight loss ORPHA:65682
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenitis, Splenomegaly, Lymphadenopathy, Impaired oxidative bur... OMIM:306400
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal... ORPHA:29072
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Pituitary adenoma, I... ORPHA:97278
Pneumocystosis
Neoplasm, Weight loss ORPHA:723
Cap Polyposis
Weight loss ORPHA:160148
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Increased body weight, Weight l... ORPHA:1501
Microsporidiosis
Abnormality of the parathyroid gland, Cachexia, Weight loss ORPHA:2552
Bullous Pemphigoid
Weight loss ORPHA:703
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Glossopharyngeal Neuralgia
Schwannoma, Neoplasm, Weight loss ORPHA:221098
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Malformation of the hepatic ductal plate, Portal hypertension,... OMIM:208540
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Osteosarcoma
Weight loss ORPHA:668
Pyomyositis
Weight loss, Testicular teratoma ORPHA:764
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary null cell adenoma, Elevated circulating growth hormone concentrati... ORPHA:913
Common Variable Immunodeficiency
Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Decreased circulati... ORPHA:1572
Polycythemia Vera
Weight loss, Myelodysplasia, Acute leukemia ORPHA:729
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Systemic Capillary Leak Syndrome
Multiple myeloma, Weight loss ORPHA:188
Huntington Disease-Like 1
Weight loss ORPHA:157941
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hepatomegaly, Pancreatitis OMIM:207750
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Weight loss ORPHA:171876
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Pemphigus Vulgaris
Weight loss ORPHA:704
Somatostatinoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Pituitary adenoma, I... ORPHA:97283
Cockayne Syndrome
Cryptorchidism, Cachexia ORPHA:191
Takayasu Arteritis
Weight loss ORPHA:3287
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgG level, Ane... OMIM:612301
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Thyroid hyperplasia, Weight loss ORPHA:424
Chronic Beryllium Disease
Weight loss ORPHA:133
Vipoma
Neoplasm of the pancreas, Follicular thyroid carcinoma, Elevated circulating growth hormone conce... ORPHA:97282
Primary Hepatic Neuroendocrine Carcinoma
Weight loss, Neoplasm of the lung, Neoplasm of the nervous system, Neoplasm of the eye, Carcinoid... ORPHA:100085
Refractory Celiac Disease
Lymphoma, Weight loss ORPHA:398063
Felty Syndrome
Lymphoma, Weight loss ORPHA:47612
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Multiple Myeloma
Increased circulating IgA level, Splenomegaly, Decreased circulating antibody level, Lymphadenopa... ORPHA:29073
Polymyositis
Breast carcinoma, Weight loss ORPHA:732
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Cachexia ORPHA:2072
Gallbladder Neuroendocrine Tumor
Neoplasm of the nervous system, Neuroendocrine neoplasm, Weight loss ORPHA:100086
Camurati-Engelmann Disease
Slender build, Cachexia ORPHA:1328
Neuroendocrine Tumor Of The Rectum
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Polyarteritis Nodosa
Weight loss ORPHA:767
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Simple Cryoglobulinemia
B-cell lymphoma, Weight loss, Chronic lymphatic leukemia, Multiple myeloma, Monoclonal immunoglob... ORPHA:91139
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormality of body weight, Enlarged polycystic ovaries, Lymphoma, Increased bo... ORPHA:2298
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Norrie Disease
Cachexia, Cryptorchidism, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Celiac Disease, Susceptibility To, 1
Failure to thrive, Lymphoma, Weight loss OMIM:212750
Familial Glucocorticoid Deficiency
Cryptorchidism, Testicular adrenal rest tumor, Weight loss, Leydig cell neoplasia, Failure to thrive ORPHA:361
Bronchial Neuroendocrine Tumor
Weight loss, Elevated circulating growth hormone concentration, Pulmonary carcinoid tumor ORPHA:97287
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Yao Syndrome
Weight loss OMIM:617321
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Familial Gestational Hyperthyroidism
Goiter, Thyroid hyperplasia, Weight loss ORPHA:99819
Glucagonoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Pituitary adenoma, I... ORPHA:97280
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Primary Intestinal Lymphangiectasia
Weight loss, Disseminated cutaneous warts ORPHA:90362
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Rheumatoid Arthritis
Weight loss OMIM:180300
Perry Syndrome
Weight loss OMIM:168605
Poems Syndrome
Hemangioma, Lymphoproliferative disorder, Increased circulating prolactin concentration, Weight loss ORPHA:2905
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Oromandibular Dystonia
Weight loss ORPHA:93958
Fatal Familial Insomnia
Weight loss OMIM:600072
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Pituitary adenoma, Adrenocorticotropic hormone deficiency, Weight loss, Failu... ORPHA:199299
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Inflammatory Pseudotumor Of The Liver
Weight loss ORPHA:90003
Loeffler Endocarditis
Weight loss ORPHA:75566
Igg4-Related Aortitis
Weight loss ORPHA:449400
Malt Lymphoma
B-cell lymphoma, Weight loss ORPHA:52417
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Ménétrier Disease
Weight loss ORPHA:2494
8P23.1 Microdeletion Syndrome
Cryptorchidism, Obesity, Weight loss ORPHA:251071
Neuroendocrine Tumor Of Stomach
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100075
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Klatskin Tumor
Weight loss ORPHA:99978
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Weight loss ORPHA:79430
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Symptomatic Form Of Hfe-Related Hemochromatosis
Testicular atrophy, Weight loss ORPHA:465508
Short Syndrome
Weight loss ORPHA:3163
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Dermatomyositis
Gastrointestinal stroma tumor, Lymphoma, Breast carcinoma, Weight loss, Neoplasm, Lung adenocarci... ORPHA:221
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal testis morphology, Weight loss ORPHA:85450
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Addison Disease
Hypoparathyroidism, Primary testicular failure, Thymoma, Weight loss, Failure to thrive ORPHA:85138
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Giant Cell Arteritis
Weight loss ORPHA:397
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Al Amyloidosis
Abnormal salivary gland morphology, Weight loss ORPHA:85443
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Weight loss ORPHA:100078
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Primary Sclerosing Cholangitis
Adenocarcinoma of the large intestine, Neoplasm of the gallbladder, Cholelithiasis, Weight loss ORPHA:171
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Failure to thrive, Weight loss ORPHA:99885
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Alveolar Echinococcosis
Pancreatic cysts, Weight loss ORPHA:284
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Increased circulatin... ORPHA:91347
Igg4-Related Retroperitoneal Fibrosis
Hydrocele testis, Weight loss ORPHA:49041
Fanconi Anemia
Myelodysplasia, Cryptorchidism, Weight loss, Neoplasm, Abnormal testis morphology, Absent testis ORPHA:84
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Q Fever
Weight loss ORPHA:781
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Castleman Disease
Weight loss ORPHA:160
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Rat-Bite Fever
Parotitis, Weight loss ORPHA:31205
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Weight loss, Enlargement of parotid gland, Nodular goiter, Abnormal sal... ORPHA:79078
Riddle Syndrome
Weight loss ORPHA:420741
Erdheim-Chester Disease
Weight loss ORPHA:35687
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Mucolipidosis Type Ii
Weight loss ORPHA:576
Immunodeficiency 31C
Weight loss OMIM:614162
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Brucellosis
Orchitis, Failure to thrive, Small for gestational age, Weight loss ORPHA:1304
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Igg4-Related Kidney Disease
Sialadenitis, Abnormality of the anterior pituitary, Lymphocytoma cutis, Weight loss ORPHA:449395
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Weight loss ORPHA:60025
Immunodeficiency 82 With Systemic Inflammation
B-cell lymphoma, Cholesteatoma, Weight loss OMIM:619381
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased testicular size, Failure to thrive, Testicular adrenal rest tumor, Weight loss ORPHA:90794
Postinfectious Vasculitis
Orchitis, Weight loss ORPHA:48435
Cystinosis, Nephropathic
Failure to thrive in infancy, Weight loss OMIM:219800
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Behçet Disease
Orchitis, Weight loss ORPHA:117
Sarcoidosis, Susceptibility To, 1
Abnormal salivary gland morphology, Enlarged lacrimal glands, Weight loss OMIM:181000
Kikuchi-Fujimoto Disease
Enlargement of parotid gland, Weight loss ORPHA:50918
Nocardiosis
Weight loss ORPHA:31204
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Sarcoidosis
Enlargement of parotid gland, Enlarged lacrimal glands, Parotitis, Weight loss ORPHA:797
Choreoacanthocytosis
Weight loss ORPHA:2388
African Trypanosomiasis
Abnormal prolactin level, Weight loss ORPHA:3385
Chronic Graft Versus Host Disease
Weight loss ORPHA:99921
Tubulointerstitial Nephritis And Uveitis Syndrome
Weight loss ORPHA:91500
Goodpasture Syndrome
Weight loss OMIM:233450

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 Skil

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 Skil.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
The Transcriptional Regulator SnoN Promotes the Proliferation of Cerebellar Granule Neuron Precursors in the Postnatal Mouse Brain. The Journal of neuroscience : the official journal of the Society for Neuroscience (November 2018) Skiltm1c(EUCOMM)Hmgu Skiltm1a(EUCOMM)Hmgu 30425119

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
Skiltm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Skiltm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice
Skiltm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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