Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 5.57×10-05

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Viewing: all phenotypes

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

13 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

X-ray

XRay Images Forepaw

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

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
Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Splenomegaly, Hypersplenism OMIM:183350
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Decreased circulating total IgM, Hepatomegaly, Splenomegaly OMIM:606445
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Decreased circulating total IgM, Decreased circulating IgA ... OMIM:616452
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Hypoplasia of the thymus, Impaired T cell fu... OMIM:267500
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Aids Wasting Syndrome
Cachexia, Weight loss ORPHA:90081
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Diencephalic Syndrome
Cachexia, Neoplasm of the nervous system, 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
Caspase 8 Deficiency
Reduced CD95-induced lymphocyte apoptosis, Lymphadenopathy, Decreased CD4:CD8 ratio, Complete or ... OMIM:607271
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
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 central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Testicular ne... 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
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Mulibrey Nanism
Cachexia ORPHA:2576
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 52
Defective T cell proliferation, Lymphadenopathy, Abnormal natural killer cell count, Decreased ci... OMIM:617514
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Increased circulating antibody level, Thrombocytopenia, Sp... OMIM:615285
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Defective T cell proliferation, Cervical lymphadenopathy, Mediastina... OMIM:618534
Immunodeficiency, Common Variable, 7
Decreased circulating total IgG, Chronic partially decreased circulating IgG1, Decreased specific... OMIM:614699
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Complete or near-complete absence of specific antibody response to tetanus vaccine,... OMIM:620282
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Increased circulating antibody level, Pancytopenia, Lymphocytosis, Decreased lympho... OMIM:614470
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased specific anti-polysaccharide antibody level, Mediastinal lymphadenopathy, Decreased CD4... OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Increased circulating IgG... OMIM:619220
Immunodeficiency 84
B lymphocytopenia, Splenomegaly, Perianal abscess OMIM:619437
Moynahan Syndrome
Cachexia ORPHA:2574
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Partial absence of specific antibody response to unconjugated pneu... OMIM:240500
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Failure to thrive, Weight loss OMIM:612075
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Panhypogammaglobulinemi... OMIM:269840
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:613662
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Autoimmune Lymphoproliferative Syndrome
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:601859
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Increased circulating antibody level, Splenomegaly, Abnorm... ORPHA:100024
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope... ORPHA:444463
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Lymphadenopathy, Hemophagocytosis, Decreased circulating antibody level, Abnormal natural... OMIM:613101
Immunodeficiency 104
Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia OMIM:608971
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Decreased circulating IgE, Pancytopenia, B lymphocytopenia, Increased proportion of effec... OMIM:619824
Ectodermal Dysplasia With Adrenal Cyst
Hypohidrosis, Breast hypoplasia, Hypoplastic nipples OMIM:129550
Melanoma-Pancreatic Cancer Syndrome
Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade... OMIM:606719
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Alpha-Heavy Chain Disease
Dysgammaglobulinemia, Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Hepatomegaly, Myeloproliferative disorder, Splenomegaly OMIM:607685
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Nodular Lymphocyte Predominant Hodgkin Lymphoma
B-cell lymphoma, Lymphoma, Weight loss, Breast carcinoma ORPHA:86893
Laryngeal Neuroendocrine Tumor
Neoplasm of the larynx, Neuroendocrine neoplasm, Adrenocorticotropic hormone excess, Weight loss ORPHA:100083
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Cronkhite-Canada Syndrome
Intestinal polyposis, Stomach cancer, Cachexia, Hamartomatous polyposis, Colon cancer, Neoplasm, ... ORPHA:2930
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytope... OMIM:308240
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Hepatocellular carcinoma ORPHA:882
Immunodeficiency 27A
Anemia, Lymphadenopathy, Increased circulating IgG level, Leukocytosis, Increased circulating IgM... OMIM:209950
Mcdonough Syndrome
Cachexia, Cryptorchidism ORPHA:2471
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia OMIM:619164
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis, Impaired Ig class switch... OMIM:308230
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Partial absence of specific antibody response to Haemophilus... OMIM:620632
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Decreased circulating antibody level, Leukocytosis OMIM:618042
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Splenomegaly, Portal hypertension OMIM:617068
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Follicular hyperplasia, Hepatomegaly, Absent isohemagglutinin level,... OMIM:615559
Autoimmune Lymphoproliferative Syndrome, Type Iia
Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anem... OMIM:603909
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Decreased circula... OMIM:615122
Nut Midline Carcinoma
Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom... ORPHA:443167
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Increased circulating IgG level, Sple... OMIM:618495
Idiopathic Achalasia
Weight loss ORPHA:930
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Immunodeficiency 97 With Autoinflammation
Granuloma, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count, Decreased... OMIM:619802
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis OMIM:271500
Christianson Syndrome
Cachexia ORPHA:85278
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Hepatic steatosis, Splenomegaly OMIM:614480
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Increased circulating IgM level, Splenomegaly ORPHA:37748
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Renpenning Syndrome
Decreased testicular size, Cachexia ORPHA:3242
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Decreased circulating antibody lev... OMIM:300635
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Cachexia, Failure to thrive in infancy OMIM:616801
Medullary Thyroid Carcinoma
Pheochromocytoma, Neoplasm of the lung, Neoplasm of the skeletal system, Primary hyperparathyroid... ORPHA:1332
Indolent Systemic Mastocytosis
Hepatomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytosis, Splenomega... ORPHA:98848
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Abscess, Splenomegaly, Intermittent thrombocytopenia, Abnorma... OMIM:150550
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Decreased circulating IgE, Pancytopenia, Decreased proportion of memory... OMIM:618394
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Aredyld Syndrome
Cachexia, Refractory anemia with ringed sideroblasts ORPHA:1133
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Decreased circulating an... ORPHA:397596
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Decreased circulating IgG level, Leukopenia, Splenomegaly, Lymphopenia, Decreased c... OMIM:620210
Nephroblastoma
Neoplasm of the lung, Weight loss, Neoplasm, Nephroblastoma, Neoplasm of the liver ORPHA:654
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly OMIM:607616
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level,... OMIM:616100
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Neoplasm of the breast, Neoplasm of the respiratory system, Weight loss, Neoplasm ORPHA:2221
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Primary Myelofibrosis
Hemangioma, Cachexia, Hematological neoplasm ORPHA:824
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Weight loss ORPHA:2198
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Panhypogammaglobulinemia, B lymphocytopenia, Increased circulating IgE level, Lymph... OMIM:602450
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss ORPHA:298
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Bannayan-Riley-Ruvalcaba Syndrome
Thyroid carcinoma, Intestinal polyposis, Lipoma, Capillary hemangioma, Cachexia, Neoplasm of the ... ORPHA:109
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Immunodeficiency 10
Increased circulating IgG3 level, Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Inc... OMIM:612783
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Weight loss ORPHA:1979
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma, Weight loss, Neoplasm of the liver ORPHA:69077
Immunodeficiency 32B
Hepatomegaly, Anemia, Abnormal circulating IgG level, Eosinophilia, Neutrophilia, Thrombocytopeni... OMIM:226990
Leishmaniasis
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Pancytopenia, Abnorm... ORPHA:507
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Gastrointestinal carcinoma, Hamartomatous polyposis OMIM:175500
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Tetrasomy 12P
Cachexia ORPHA:884
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Intestinal polyposis, Weight loss ORPHA:388
Huntington Disease-Like 2
Weight loss ORPHA:98934
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Biliary tract abnormality, Splenomegaly, Neonatal cholestatic ... ORPHA:79301
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Gran... OMIM:618935
Chronic Hiccup
Weight loss ORPHA:396
Follicular Lymphoma
Lymphoma, Weight loss ORPHA:545
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Hypochromia, Elevated hepatic iron concentration, Anis... OMIM:616860
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Cachexia ORPHA:42
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Cachexia, Severe failure to thrive ORPHA:371364
Isaacs Syndrome
Weight loss ORPHA:84142
Peritoneal Cystic Mesothelioma
Weight loss, Neoplasm ORPHA:168816
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:220295
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Increased circulating IgE level, Megaloblastic anemia, Decreased circulating IgG le... OMIM:620603
Thymic Neuroendocrine Tumor
Neoplasm of the endocrine system, Pancreatic islet cell adenoma, Neoplasm of the thymus, Primary ... ORPHA:97289
19Q13.11 Microdeletion Syndrome
Cachexia, Failure to thrive, Supernumerary nipple, Cryptorchidism ORPHA:217346
Wolman Disease
Cachexia ORPHA:75233
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis OMIM:619658
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal... OMIM:619375
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Pelizaeus-Merzbacher Disease
Cachexia, Failure to thrive in infancy ORPHA:702
Familial Colorectal Cancer Type X
Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re... ORPHA:440437
Malignant Peritoneal Mesothelioma
Weight loss, Neoplasm ORPHA:168811
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Splenomegaly, Hepatic fibrosis OMIM:613313
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Neonatal cholestatic liver disease, Splenomegaly OMIM:214900
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Anaplastic Thyroid Carcinoma
Anaplastic thyroid carcinoma, Neoplasm of the lung, Neoplasm of the skeletal system, Nodular goit... ORPHA:142
Majeed Syndrome
Cachexia, Failure to thrive, Weight loss ORPHA:77297
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Decreased circulating antibody level, Ascites, Bone marr... ORPHA:381
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut... OMIM:615387
Erythrokeratodermia Variabilis
Neoplasm of the skin, Abnormal testis morphology, Weight loss ORPHA:317
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Lynch Syndrome
Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma... ORPHA:144
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent peripheral lymph nodes in pres... OMIM:600802
Silver-Russell Syndrome
Cachexia, Decreased testicular size, Obesity, Failure to thrive in infancy, Cryptorchidism ORPHA:813
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Portal hypertension, Splenomegal... OMIM:616278
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Solitary Fibrous Tumor
Genital neoplasm, Neoplasm of the nervous system, Neoplasm of the lung, Vaginal neoplasm, Prostat... ORPHA:2126
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Familial Cold Autoinflammatory Syndrome 2
Lymphadenopathy, Leukocytosis, Splenomegaly OMIM:611762
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal immunoglobulin level, Abnormal lymphocyte morphology, Spl... ORPHA:3162
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Inflammatory Pseudotumor Of The Liver
Neoplasm of the liver, Weight loss ORPHA:90003
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Classic Hodgkin Lymphoma
Lymphoma, Weight loss, Neoplasm ORPHA:391
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Cap Polyposis
Weight loss, Colorectal polyposis ORPHA:160148
Nijmegen Breakage Syndrome
Acute leukemia, Rhabdomyosarcoma, T-cell lymphoma, Cachexia, Lymphoma, Glioma, Neoplasm, B-cell l... ORPHA:647
Kaposi Sarcoma
Neoplasm of the skin, Neoplasm by anatomical site, Hemangioma, Weight loss, Lymphoproliferative d... ORPHA:33276
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Conjunctival hamartoma ORPHA:312
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Hepatocellular carcinoma, Ascites, Portal hypertension, Thrombocytopenia, Splenomeg... OMIM:619463
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Neutropenia in presence of anti-neutr... ORPHA:436159
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Periportal fibrosis, Hepatocellular carci... ORPHA:64743
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Portal inflammation... OMIM:602347
X-Linked Intellectual Disability, Cabezas Type
Decreased testicular size, Cachexia, Obesity ORPHA:85293
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Infantile Krabbe Disease
Cachexia, Failure to thrive ORPHA:206436
Rett Syndrome
Cachexia OMIM:312750
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Thymoma
Neoplasm of the thyroid gland, Prostate neoplasm, Neoplasm of the gastrointestinal tract, Leukemi... ORPHA:99867
Tropical Pancreatitis
Abnormal pancreatic duct morphology, Pancreatic calcification, Weight loss, Pancreatic adenocarci... ORPHA:103918
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Benign Recurrent Intrahepatic Cholestasis
Hepatocellular carcinoma, Cholelithiasis, Weight loss ORPHA:65682
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Anemia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated hepatic iron co... OMIM:615234
Huntington Disease-Like 2
Weight loss OMIM:606438
Amyotrophic Lateral Sclerosis
Cachexia ORPHA:803
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hepati... ORPHA:848
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep... ORPHA:457077
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Neuroblastoma, Susceptibility To, 1
Neuroblastoma, Failure to thrive, Weight loss, Ganglioneuroma, Ganglioneuroblastoma OMIM:256700
Short Fifth Metacarpals-Insulin Resistance Syndrome
Spherocytosis, Splenomegaly ORPHA:66518
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Whipple Disease
Cachexia ORPHA:3452
Cholesteryl Ester Storage Disease
Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension... OMIM:278000
Juvenile Polyposis Of Infancy
Cachexia, Hamartomatous polyposis, Hemangioma, Hemangioblastoma, Adenomatous colonic polyposis, S... ORPHA:79076
Focal Myositis
Weight loss ORPHA:48918
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Xfe Progeroid Syndrome
Cachexia, Failure to thrive OMIM:610965
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Peripheral Primitive Neuroectodermal Tumor
Spinal cord tumor, Neoplasm of the pancreas, Ovarian neoplasm, Brain neoplasm, Weight loss, Perip... ORPHA:370348
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Cirrhosis, Hepatomegaly, Accessory spleen, Ch... OMIM:300972
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Reticulocytosis, Hepatos... ORPHA:846
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Generalized lymphadenopathy, Lymphadenopathy, Pancytopenia, Decrease... OMIM:614700
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, Aplasia of... OMIM:102700
Central Diabetes Insipidus
Failure to thrive, Weight loss ORPHA:178029
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly OMIM:620296
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cel... OMIM:613179
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Slender build, Weight loss OMIM:603041
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgG level, Increased circulating... OMIM:617388
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Increased circulating antibody level, Cholelithiasis, Pancytopen... ORPHA:77259
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Familial Thrombocytosis
Myelodysplasia, Acute myeloid leukemia, Weight loss, Chronic myelogenous leukemia ORPHA:71493
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Melanoma, Colon cancer, Weight loss, Breast carcinoma, Ovarian carcino... ORPHA:1333
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Weight loss ORPHA:514
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Chronic lymphatic leukemia, Myeloproliferative disorder, Lymphoma, Multip... ORPHA:98849
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Weight loss OMIM:188580
Schwartz-Jampel Syndrome
Cachexia, Decreased body weight, Decreased testicular size, Testicular torsion, Odontogenic neoplasm ORPHA:800
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Autoimmune Hepatitis
Cirrhosis, Jaundice, Increased circulating antibody level, Sclerosing cholangitis, Increased circ... ORPHA:2137
Hypercalcemia, Infantile, 1
Failure to thrive, Weight loss OMIM:143880
Pleural Mesothelioma
Weight loss ORPHA:50251
Juvenile Huntington Disease
Weight loss ORPHA:248111
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233710
Beta-Thalassemia Intermedia
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Anemia of inadequate production, Hepatocellula... ORPHA:231222
Autoimmune Lymphoproliferative Syndrome
Increased circulating antibody level, Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity... ORPHA:3261
Perry Syndrome
Weight loss ORPHA:178509
Non-Functioning Paraganglioma
Paraganglioma, Weight loss, Paraganglioma of head and neck ORPHA:94080
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Increased circulating antibody level, Lymphadenopathy, Thrombocytopenia, Sp... OMIM:617591
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Klatskin Tumor
Weight loss, Cholangiocarcinoma ORPHA:99978
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Cachexia, Failure to thrive in infancy ORPHA:37042
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Splenomegaly, Hepatomegaly OMIM:235555
Trisomy 18
Cachexia, Cryptorchidism ORPHA:3380
Graves Disease
Goiter, Weight loss OMIM:275000
Grfoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97261
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Lymphadenitis, Splenomegaly, Impair... OMIM:233690
Hyper-Igd Syndrome
Lymphadenopathy, Increased circulating IgA level, Leukocytosis, Lymphadenitis, Increased circulat... OMIM:260920
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Weight loss OMIM:613239
Pfapa Syndrome
Weight loss ORPHA:42642
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
X-Linked Agammaglobulinemia
Failure to thrive, Weight loss, Neoplasm ORPHA:47
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Esophageal neoplasm, Fibroma, Diffuse leiomyomatosis, Vaginal neoplasm, Failure to thrive, Trache... ORPHA:1018
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Splenomegaly, ... OMIM:607765
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Ascites, Portal hypertension, Splenomegaly, Peritonitis, Chole... ORPHA:131
Seckel Syndrome
Cachexia ORPHA:808
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Hepatomegaly, Increased circulating IgE level, Increased circulating... OMIM:620565
Hereditary Orotic Aciduria
Anemia, Splenomegaly, Impaired T cell function ORPHA:30
Lysosomal Acid Lipase Deficiency
Cachexia, Failure to thrive, Weight loss ORPHA:275761
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Aggressive Systemic Mastocytosis
Leukemia, Weight loss, Hematological neoplasm ORPHA:98850
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Bile duct proliferat... OMIM:613812
Ppoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Cholelithiasis, Adrenocortica... ORPHA:97278
Parathyroid Carcinoma
Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Lipoma, Testicular neoplasm, Renal hamartoma, ... ORPHA:143
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Anemia of inadequate production, Persistence of hemoglo... OMIM:613673
Caroli Disease
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Pyomyositis
Testicular teratoma, Weight loss ORPHA:764
Granulomatous Disease, Chronic, X-Linked
Hepatomegaly, Liver abscess, Lymphadenopathy, Rectal abscess, Ascites, Lymphadenitis, Granuloma, ... OMIM:306400
Sporadic Pheochromocytoma/Secreting Paraganglioma
Adrenal pheochromocytoma, Paraganglioma of head and neck, Paraganglioma, Weight loss, Extraadrena... ORPHA:276621
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Proteus Syndrome
Neoplasm of the central nervous system, Retinal hamartoma, Ovarian neoplasm, Exostosis of the ext... ORPHA:744
Pneumocystosis
Weight loss, Neoplasm ORPHA:723
Ménétrier Disease
Multiple gastric polyps, Weight loss, Stomach cancer ORPHA:2494
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Retinal capil... ORPHA:29072
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
Zollinger-Ellison Syndrome
Glucagonoma, Neuroendocrine neoplasm, Lipoma, Adrenocortical adenoma, Pituitary growth hormone ce... ORPHA:913
Microsporidiosis
Abnormality of the parathyroid gland, Cachexia, Weight loss ORPHA:2552
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Systemic Capillary Leak Syndrome
Weight loss, Multiple myeloma ORPHA:188
Adrenocortical Carcinoma
Increased body weight, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma, Weight loss, ... ORPHA:1501
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary cort... ORPHA:652
Vipoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Increased circulating prolact... ORPHA:97282
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Weight loss ORPHA:1842
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Common Variable Immunodeficiency
Lymphadenopathy, Decreased circulating antibody level, Splenomegaly, Lymphopenia, Abnormality of ... ORPHA:1572
Glossopharyngeal Neuralgia
Schwannoma, Weight loss, Neoplasm ORPHA:221098
Renal-Hepatic-Pancreatic Dysplasia 1
Enlarged kidney, Hyperechogenic pancreas, Cirrhosis, Hepatomegaly, Cholestasis, Biliary cirrhosis... OMIM:208540
Osteosarcoma
Weight loss ORPHA:668
Primary Hepatic Neuroendocrine Carcinoma
Neoplasm of the nervous system, Neoplasm of the eye, Neoplasm of the lung, Carcinoid tumor, Weigh... ORPHA:100085
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Chronic Beryllium Disease
Weight loss ORPHA:133
Neuroendocrine Tumor Of The Colon
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Huntington Disease-Like 1
Weight loss ORPHA:157941
Somatostatinoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Neopl... ORPHA:97283
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Weight loss, Thyroid hyperplasia ORPHA:424
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Cholelithiasis, Weight loss ORPHA:171876
Cockayne Syndrome
Cachexia, Cryptorchidism ORPHA:191
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the nervous system, Biliary tract neoplasm, Weight loss ORPHA:100086
Eosinophilic Fasciitis
Weight loss ORPHA:3165
Takayasu Arteritis
Weight loss ORPHA:3287
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Anemia, Decreased circulating IgG level, Splenomegaly, Decreased circulating total ... OMIM:612301
Refractory Celiac Disease
Lymphoma, Weight loss ORPHA:398063
Bullous Pemphigoid
Weight loss ORPHA:703
Felty Syndrome
Lymphoma, Weight loss ORPHA:47612
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
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Polymyositis
Weight loss, Breast carcinoma ORPHA:732
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Multiple Myeloma
Anemia, Lymphadenopathy, Increased circulating IgG level, Increased circulating IgA level, Decrea... ORPHA:29073
Familial Glucocorticoid Deficiency
Cryptorchidism, Failure to thrive, Leydig cell neoplasia, Weight loss, Testicular adrenal rest tumor ORPHA:361
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Cholelithiasis ORPHA:2072
Camurati-Engelmann Disease
Cachexia, Slender build ORPHA:1328
Polyarteritis Nodosa
Weight loss ORPHA:767
Neuroblastoma
Neuroblastoma, Neoplasm of the nervous system, Weight loss ORPHA:635
Marfan Syndrome
Cachexia, Slender build ORPHA:558
Polycythemia Vera
Acute leukemia, Myelodysplasia, Weight loss ORPHA:729
Bronchial Neuroendocrine Tumor
Pulmonary carcinoid tumor, Elevated circulating growth hormone concentration, Weight loss ORPHA:97287
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Multiple myeloma, Weight loss, Monoclonal immunoglobulin M proteinemi... ORPHA:91139
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased body weight, Decreased body weight, Abnormality of ... ORPHA:2298
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatocellular carcinoma, Testicular atrophy, Weight loss, Cholangiocarcinoma ORPHA:465508
Familial Gestational Hyperthyroidism
Goiter, Weight loss, Thyroid hyperplasia ORPHA:99819
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Weight loss ORPHA:54251
Norrie Disease
Cachexia, Neoplasm of the eye, Failure to thrive, Cryptorchidism, Vascular neoplasm ORPHA:649
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Neuroendocrine Tumor Of Stomach
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Zollinger-Ellison syndrome, Weight loss, Par... ORPHA:100075
Celiac Disease, Susceptibility To, 1
Failure to thrive, Lymphoma, Weight loss OMIM:212750
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Weight loss ORPHA:90362
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Stickler Syndrome
Cachexia, Slender build ORPHA:828
Yao Syndrome
Weight loss OMIM:617321
Glucagonoma
Neoplasm of the pancreas, Increased circulating gonadotropin level, Adrenocortical adenoma, Prima... ORPHA:97280
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Pancreatoblastoma
Pancreatic calcification, Weight loss ORPHA:677
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Adrenocorticotropic hormone deficiency, Failure to thrive, Pituitary adenoma,... ORPHA:199299
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Rheumatoid Arthritis
Weight loss OMIM:180300
Fatal Familial Insomnia
Weight loss OMIM:600072
Perry Syndrome
Weight loss OMIM:168605
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Oromandibular Dystonia
Weight loss ORPHA:93958
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
Poems Syndrome
Hemangioma, Increased circulating prolactin concentration, Lymphoproliferative disorder, Weight loss ORPHA:2905
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Loeffler Endocarditis
Weight loss ORPHA:75566
Gm1 Gangliosidosis
Failure to thrive, Weight loss ORPHA:354
Igg4-Related Aortitis
Weight loss ORPHA:449400
8P23.1 Microdeletion Syndrome
Obesity, Cryptorchidism, Weight loss ORPHA:251071
Malt Lymphoma
B-cell lymphoma, Weight loss ORPHA:52417
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Weight loss ORPHA:79430
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Pemphigus Vulgaris
Weight loss ORPHA:704
Short Syndrome
Weight loss ORPHA:3163
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Cushing Syndrome Due To Ectopic Acth Secretion
Neoplasm of the stomach, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreatic endocrine... ORPHA:99889
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size, Weight loss ORPHA:400
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Abnormal testis morphology, Weight loss ORPHA:85450
Aicardi-Goutieres Syndrome 9
Failure to thrive, Weight loss OMIM:619487
Lymphoid Interstitial Pneumonia
Failure to thrive, Weight loss ORPHA:79128
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Cryptorchidism, Weight loss OMIM:301310
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Addison Disease
Hypoparathyroidism, Primary testicular failure, Failure to thrive, Thymoma, Weight loss ORPHA:85138
Drug Reaction With Eosinophilia And Systemic Symptoms
Weight loss ORPHA:139402
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565
Giant Cell Arteritis
Weight loss ORPHA:397
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Zollinger-Ellison syndrome, Weight loss ORPHA:100078
Al Amyloidosis
Abnormal salivary gland morphology, Weight loss ORPHA:85443
Primary Sclerosing Cholangitis
Cholelithiasis, Adenocarcinoma of the large intestine, Hepatocellular carcinoma, Weight loss, Cho... ORPHA:171
Adult-Onset Still Disease
Weight loss ORPHA:829
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Pancreatic hypoplasia, Weight loss ORPHA:99885
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Alveolar Echinococcosis
Pancreatic cysts, Weight loss ORPHA:284
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Fanconi Anemia
Abnormal testis morphology, Weight loss, Neoplasm, Absent testis, Cryptorchidism, Myelodysplasia ORPHA:84
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Dermatomyositis
Lymphoma, Gastrointestinal stroma tumor, Lung adenocarcinoma, Weight loss, Breast carcinoma, Neop... ORPHA:221
Tsh-Secreting Pituitary Adenoma
Enlarged pituitary gland, Increased circulating gonadotropin level, Abnormal pituitary gland morp... ORPHA:91347
Igg4-Related Retroperitoneal Fibrosis
Weight loss, Hydrocele testis ORPHA:49041
Acute Adrenal Insufficiency
Failure to thrive, Weight loss ORPHA:95409
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Q Fever
Weight loss ORPHA:781
Castleman Disease
Weight loss ORPHA:160
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Thyrotoxic Periodic Paralysis
Obesity, Weight loss ORPHA:79102
Juvenile Dermatomyositis
Weight loss ORPHA:93672
Rat-Bite Fever
Parotitis, Weight loss ORPHA:31205
Stevens-Johnson Syndrome
Weight loss ORPHA:36426
Toxic Epidermal Necrolysis
Weight loss ORPHA:537
Erdheim-Chester Disease
Weight loss ORPHA:35687
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Abnormal salivary gland morphology, Abnormality of the submandibular gl... ORPHA:79078
Igg4-Related Kidney Disease
Sialadenitis, Lymphocytoma cutis, Abnormality of the anterior pituitary, Weight loss ORPHA:449395
Mucolipidosis Type Ii
Weight loss ORPHA:576
Riddle Syndrome
Weight loss ORPHA:420741
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Immunodeficiency 31C
Weight loss OMIM:614162
Aicardi-Goutieres Syndrome 7
Weight loss OMIM:615846
Brucellosis
Failure to thrive, Orchitis, Small for gestational age, Weight loss ORPHA:1304
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Pulmonary Alveolar Microlithiasis
Testicular microlithiasis, Weight loss ORPHA:60025
Cystinosis, Nephropathic
Failure to thrive, Failure to thrive in infancy, Weight loss OMIM:219800
Reactive Arthritis
Weight loss ORPHA:29207
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Weight loss ORPHA:85408
Immunodeficiency 82 With Systemic Inflammation
B-cell lymphoma, Weight loss, Cholesteatoma 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
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Granulomatosis With Polyangiitis
Weight loss ORPHA:900
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal salivary gland morphology, Weight loss OMIM:181000
Behçet Disease
Orchitis, Weight loss ORPHA:117
Kikuchi-Fujimoto Disease
Weight loss, Enlargement of parotid gland ORPHA:50918
Nocardiosis
Weight loss ORPHA:31204
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Hutchinson-Gilford Progeria Syndrome