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Gene: Hamp MGI:1933533

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
hepcidin antimicrobial peptide
Synonyms:
HEPC1,  Hepc

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Hamp 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.

The table below shows human diseases associated to Hamp by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Iron Overload, Susceptibility To
Elevated circulating hepcidin concentration, Increased circulating ferritin concentration, Elevat... OMIM:620121
Hemochromatosis, Type 5
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati... OMIM:615517
Genetic Hyperferritinemia Without Iron Overload
Increased circulating ferritin concentration, Abnormal serum iron concentration, Abnormal transfe... ORPHA:254704
Anemia, Sideroblastic, 2, Pyridoxine-Refractory
Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati... OMIM:205950
Immunodeficiency 30
Recurrent mycobacterial infections, Recurrent infections OMIM:614891
Immunodeficiency 28
Recurrent mycobacterial infections OMIM:614889
Immunodeficiency 34
Recurrent mycobacterial infections, BCGosis, Pulmonary tuberculosis OMIM:300645
Neutrophil Actin Dysfunction
Recurrent bacterial infections OMIM:257150
Complement Component 7 Deficiency
Recurrent Neisserial infections, Recurrent meningococcal disease OMIM:610102
Anemia, Hypochromic Microcytic, With Iron Overload 1
Increased serum iron, Elevated hepatic iron concentration OMIM:206100
Complement Factor D Deficiency
Recurrent bacterial infections OMIM:613912
Gracile Syndrome
Increased circulating ferritin concentration, Cholestasis, Cirrhosis, Elevated hepatic iron conce... ORPHA:53693
Complement Component 8 Deficiency, Type Ii
Recurrent Neisserial infections, Meningitis OMIM:613789
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Recurrent protozoan infections, Recurrent viral infections OMIM:308220
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated hepatic transaminase, Hepatomegaly, Conjugated hyperbilirubinemia, Increased circulating... OMIM:616860
Gracile Syndrome
Increased serum pyruvate, Increased circulating ferritin concentration, Increased serum iron, Cho... OMIM:603358
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... OMIM:615234
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent staphylococcal infections, Recurrent streptococcus pneu... ORPHA:70592
Idiopathic Copper-Associated Cirrhosis
Decreased circulating ceruloplasmin concentration, Copper accumulation in liver, Cirrhosis, Incre... ORPHA:209919
Dietary Iron Overload Disease
Hepatomegaly, Viral hepatitis, Hepatocellular carcinoma, Increased circulating ferritin concentra... ORPHA:139507
Immunodeficiency 31B
Recurrent mycobacterial infections, Herpes simplex encephalitis, Recurrent viral infections OMIM:613796
Immunodeficiency 31A
Herpes simplex encephalitis, Recurrent mycobacterium avium complex infections, BCGitis, Recurrent... OMIM:614892
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemochromatosis, Neonatal
Increased circulating ferritin concentration, Cholestasis, Hepatocellular necrosis, Prolonged neo... OMIM:231100
Neonatal Hemochromatosis
Increased circulating ferritin concentration, Increased serum iron, Congenital hepatic fibrosis, ... ORPHA:446
Hemochromatosis, Type 2B
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Elevat... OMIM:613313
X-Linked Sideroblastic Anemia
Anemia, Splenomegaly, Abnormality of iron homeostasis ORPHA:75563
Immunodeficiency 35
Recurrent respiratory infections, Recurrent mycobacterial infections, Recurrent fungal infections... OMIM:611521
Bile Acid Synthesis Defect, Congenital, 5
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Portal ... OMIM:616278
Immunodeficiency, Common Variable, 5
Recurrent respiratory infections, Recurrent bacterial infections OMIM:613495
Myelolymphatic Insufficiency
Recurrent bacterial infections, Recurrent viral infections OMIM:310350
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Increased circulating ferritin concentration, Hepatosplenomegaly, ... ORPHA:300298
Hjv Or Hamp-Related Hemochromatosis
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... ORPHA:79230
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
Recurrent bacterial infections, Recurrent candida infections OMIM:242870
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy, Weight loss ORPHA:52416
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Decreased circulating hepcidin concentration, Viral hepatitis, Hep... ORPHA:101330
Granulomatous disease with defect in neutrophil chemotaxis
Recurrent staphylococcal infections OMIM:233670
Beta-Thalassemia Intermedia
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Hepatosplenomegaly, Abnormality o... ORPHA:231222
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Zinc Deficiency, Transient Neonatal
Decreased serum zinc OMIM:608118
Aceruloplasminemia
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:48818
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Lymphadenopathy, Abnormal proport... OMIM:212050
Copper Deficiency, Familial Benign
Failure to thrive, Decreased circulating copper concentration, Anemia OMIM:121270
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100083
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Mednik Syndrome
Intrahepatic cholestasis, Decreased circulating ceruloplasmin concentration, Decreased circulatin... ORPHA:171851
Combined Oxidative Phosphorylation Deficiency 14
Increased hepatic glycogen content, Copper accumulation in liver, Elevated hepatic iron concentra... OMIM:614946
Cd8 Deficiency, Familial
Recurrent respiratory infections, Recurrent bacterial infections, Recurrent viral infections OMIM:608957
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Cirr... OMIM:606069
Immunodeficiency 27A
Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Lymphadenopathy, Enlarged mesenteric... OMIM:209950
Aceruloplasminemia
Anemia, Increased circulating ferritin concentration, Aceruloplasminemia, Decreased serum iron OMIM:604290
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... OMIM:237800
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, C... OMIM:602390
Focal Myositis
Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Pulmonary Blastoma
Weight loss ORPHA:64741
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Weight loss, Lymphadenopathy, Anemia ORPHA:100024
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Iron-Refractory Iron Deficiency Anemia
Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso... OMIM:206200
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Weight loss, Lymphadenopathy, Mastocytosis ORPHA:66661
Tuberculosis
Weight loss ORPHA:3389
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration, Abnormality o... ORPHA:54251
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Le... ORPHA:507
Galactose Epimerase Deficiency
Hepatomegaly, Splenomegaly, Jaundice, Weight loss ORPHA:79238
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Rhabdoid Tumor
Hypercalcemia, Lymphadenopathy, Anemia, Weight loss, Neoplasm of the liver, Thrombocytopenia ORPHA:69077
Irida Syndrome
Intrahepatic cholestasis, Decreased circulating copper concentration ORPHA:209981
Hyperzincemia With Functional Zinc Depletion
Increased serum zinc, Hepatomegaly OMIM:601979
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Hypermanganesemia, Increased total iron binding capa... OMIM:613280
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Central Diabetes Insipidus
Hyponatremia, Failure to thrive, Weight loss ORPHA:178029
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anisocytosis, Decreased serum iron, Decreased mean corpuscular volume, Elliptocytosis, Poikilocyt... OMIM:616959
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Reticular Dysgenesis
Abnormality of neutrophils, Weight loss, Leukopenia, Failure to thrive, Aplasia/Hypoplasia of the... ORPHA:33355
Multicentric Reticulohistiocytosis
Cachexia, Histiocytosis ORPHA:139436
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscular hemoglobin... ORPHA:231226
Undifferentiated Pleomorphic Sarcoma
Abnormal peritoneum morphology, Weight loss ORPHA:2023
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Small for gestational age, Anisocytosis, Anemia ... OMIM:224120
Hypercalcemia, Infantile, 1
Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Failure to thrive in infancy, Decreased mean corpuscu... ORPHA:231214
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Weigh... ORPHA:545
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Congenital Disorder Of Glycosylation, Type Iiq
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:617395
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Complement Factor B Deficiency
Recurrent bacterial infections, Meningitis, Recurrent meningococcal disease OMIM:615561
Familial Benign Copper Deficiency
Decreased circulating copper concentration, Anemia ORPHA:1551
Cog2-Cdg
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, De... ORPHA:435934
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Trichohepatoenteric Syndrome 2
Hepatomegaly, Small for gestational age, Decreased serum iron, Chronic hepatitis, Cirrhosis, Fail... OMIM:614602
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Weight loss, Abnormal lymphatic vessel morphology, Reduced proportion of CD4... ORPHA:90362
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc... ORPHA:171876
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... OMIM:616649
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Cholangiocarcinoma, Portal hypertension, Hepatocellular carcinoma, Splenomegaly, In... ORPHA:465508
Liver Disease, Severe Congenital
Biliary hyperplasia, Hypocalcemia, Elevated hepatic iron concentration, Pancreatic hypoplasia, He... OMIM:619991
X-Linked Agammaglobulinemia
Abnormality of the tonsils, Thrombocytopenia, Abnormality of the lymphatic system, Hepatitis, Wei... ORPHA:47
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia OMIM:612653
Huppke-Brendel Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:614482
Glucose-Galactose Malabsorption
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss ORPHA:35710
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly... ORPHA:90044
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepatic iron concentration OMIM:300868
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:42642
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... ORPHA:83469
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Increased circulating ferritin concentration, Spleno... OMIM:235200
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Huntington Disease-Like 2
Weight loss ORPHA:98934
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
X-Linked Severe Congenital Neutropenia
Recurrent bacterial infections ORPHA:86788
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Portal hypertension, Thromboc... ORPHA:824
Chronic Hiccup
Weight loss ORPHA:396
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Prolo... ORPHA:288
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Abnormal blood inorganic cation concentration, Porta... ORPHA:309854
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... OMIM:182900
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Weight loss ORPHA:2494
Isaacs Syndrome
Weight loss ORPHA:84142
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Increased body weight, Hepatitis, Weight loss, Anemia, Cirr... ORPHA:905
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Weight loss,... ORPHA:3226
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Aggressive Systemic Mastocytosis
Pancytopenia, Portal hypertension, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomeg... ORPHA:98850
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Weight loss, Lymphocytosis, Hyp... ORPHA:514
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Jaundice, Abnormal lymph node morphology, Weight loss,... ORPHA:677
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Weight loss, Hypokalemia, Portal fibrosis, Hepatic... OMIM:619377
Inflammatory Pseudotumor Of The Liver
Elevated circulating alpha-fetoprotein concentration, Abnormal liver sonography, Biliary tract ab... ORPHA:90003
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Castleman Disease
Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration, Follicular hy... ORPHA:160
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Overweight, Failure to thrive, Decreased serum iron ORPHA:391372
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Hepatomegaly, Weight loss ORPHA:2198
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:1302
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Trichohepatoenteric Syndrome 1
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... OMIM:222470
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... OMIM:242150
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Anemia ORPHA:75233
Pseudomyxoma Peritonei
Abnormal peritoneum morphology, Lymphadenopathy, Weight loss ORPHA:26790
Pleural Mesothelioma
Hepatomegaly, Lymphadenopathy, Weight loss ORPHA:50251
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Hypercalcemia, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Benign Recurrent Intrahepatic Cholestasis
Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, Cirrhosis, Hepatocellular carci... ORPHA:65682
Classic Hodgkin Lymphoma
Hepatomegaly, Splenomegaly, Lymphadenopathy, Weight loss, Bone marrow hypocellularity ORPHA:391
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia, Weight loss ORPHA:79242
Diffuse Alveolar Hemorrhage
Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thrombocytopenia ORPHA:90060
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis, Hyperalaninemia, Anemia ORPHA:298
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Abnormal circulating creatine kinase concentration, Abnormal circulating copper concentration ORPHA:521411
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Weight loss ORPHA:1164
Majeed Syndrome
Hepatomegaly, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic mi... ORPHA:77297
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight loss, Lymphade... ORPHA:29073
Rheumatoid Arthritis
Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:2902
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Failure to thrive, Decreased serum iron, Anemia, Decreased serum zinc, Hypoalbuminemia, Decreased... ORPHA:89842
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, He... ORPHA:199299
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Conjugated hyperbilirubinemia, Int... OMIM:617093
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Anemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Moynahan Syndrome
Cachexia ORPHA:2574
Felty Syndrome
Hepatomegaly, Splenomegaly, Weight loss, Anemia, Lymphadenopathy, Bone marrow hypocellularity, Ne... ORPHA:47612
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetopr... ORPHA:370348
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss, Lymphadenopathy ORPHA:99978
Thymic Carcinoma
Neoplasm of the thymus, Mediastinal lymphadenopathy, Weight loss ORPHA:99868
Huntington Disease-Like 2
Weight loss OMIM:606438
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Hemophagocytosis, Weight loss ORPHA:86884
Kaposi Sarcoma
Abnormality of the spleen, Abnormality of the liver, Generalized lymphadenopathy, Weight loss ORPHA:33276
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Failure to thrive, Anemia, Weight loss ORPHA:1842
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decre... ORPHA:42
Secondary Short Bowel Syndrome
Low plasma citrulline, Abnormal blood ion concentration, Cholestasis, Weight loss, Failure to thrive ORPHA:95427
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:449400
Syndromic Diarrhea
Hepatomegaly, Small for gestational age, Increased mean platelet volume, Splenomegaly, Abnormalit... ORPHA:84064
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Eosinophilia, Hepatic cysts, Abnormality of the pan... ORPHA:400
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Abnormal mesentery morphology, Cachexia ORPHA:93941
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Chronic Beryllium Disease
Mediastinal lymphadenopathy, Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Solitary Fibrous Tumor
Abnormal peritoneum morphology, Reduced C-peptide level, Weight loss, Neoplasm of the liver, Hypo... ORPHA:2126
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Huntington Disease
Abnormal circulating cholesterol concentration, Decreased body mass index, Weight loss ORPHA:399
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Portal hypertension, Hepatosplenomegaly, Weig... OMIM:619487
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis, Failure to ... OMIM:212750
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Cachexia, Bone-marrow foam cells, Hypersplenism, Microvesicul... ORPHA:275761
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Peritonitis, Weight loss, Cholecystiti... ORPHA:131
Nephroblastoma
Neoplasm of the liver, Lymphadenopathy, Weight loss ORPHA:654
Acute Promyelocytic Leukemia
Pancytopenia, Thrombocytopenia, Leukocytosis, Weight loss, Lymphadenopathy, Leukopenia, Neutropen... ORPHA:520
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,... ORPHA:37042
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Primary Hepatic Neuroendocrine Carcinoma
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Chronic noninfectious lymphadenopa... ORPHA:100085
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Juvenile Huntington Disease
Weight loss ORPHA:248111
Peritoneal Cystic Mesothelioma
Peritonitis, Weight loss ORPHA:168816
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Cachexia, Hepatomegaly ORPHA:2930
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Intraalveolar phospholipid accumulation, Weight loss ORPHA:747
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... ORPHA:95409
Acquired Hypertrichosis Lanuginosa
Lymphadenopathy, Weight loss ORPHA:2221
Takayasu Arteritis
Anemia, Weight loss ORPHA:3287
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, He... OMIM:300972
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Decreased serum zinc, Hepatic fib... ORPHA:541423
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Elevated circulating C-reactive protein concentration, Weight loss, Iron deficiency anemia, Lymph... OMIM:301074
Malignant Peritoneal Mesothelioma
Peritonitis, Weight loss ORPHA:168811
Perry Syndrome
Weight loss ORPHA:178509
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Splenomegaly, Decreased serum zinc, Failure to thrive, Hepatomegaly OMIM:201100
Al Amyloidosis
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Ab... ORPHA:85443
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Whipple Disease
Hyponatremia, Hepatomegaly, Cachexia, Splenomegaly, Mediastinal lymphadenopathy, Anemia ORPHA:3452
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Acute pancreatitis, Leukocytosis, Jaundice, Lipid accumulation in hepatocytes, Hype... ORPHA:20
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Hyperammonemia, Weight loss, Hyperuricemia, Thrombocytosis ORPHA:134
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Splenomegaly, Weight loss ORPHA:33577
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Familial Glucocorticoid Deficiency
Hyponatremia, Failure to thrive, Hyperkalemia, Weight loss ORPHA:361
Medullary Thyroid Carcinoma
Lymphadenopathy, Abnormal liver parenchyma morphology, Weight loss ORPHA:1332
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Weight loss ORPHA:1501
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Anemia, Weight loss OMIM:256700
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy, Weight loss ORPHA:411703
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Mcdonough Syndrome
Cachexia ORPHA:2471
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Thymoma
Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis, Weight loss, Leukemia ORPHA:99867
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Weight loss ORPHA:52417
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Leukopenia, Hepatomegaly, Abnormal circulating serine co... ORPHA:470
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating fatty-acid concentration, Increased body weight,... ORPHA:2298
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Polymyositis
Hepatomegaly, Elevated circulating creatine kinase concentration, Weight loss ORPHA:732
Liposarcoma
Weight loss ORPHA:69078
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Weight loss ORPHA:142
Cap Polyposis
Weight loss ORPHA:160148
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Bullous Pemphigoid
Weight loss ORPHA:703
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97282
Kikuchi-Fujimoto Disease
Hepatomegaly, Generalized lymphadenopathy, Elevated circulating C-reactive protein concentration,... ORPHA:50918
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Christianson Syndrome
Cachexia ORPHA:85278
Osteosarcoma
Weight loss ORPHA:668
Huntington Disease-Like 1
Weight loss ORPHA:157941
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Cholangitis, Portal hypertension, Hepatic cysts, Pancreatic cysts, A... ORPHA:284
Aredyld Syndrome
Splenomegaly, Cachexia, Hepatomegaly ORPHA:1133
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Jaundice, Extrahepatic cholestasis, Hepatosplenomegaly, Lymphadenopath... ORPHA:1333
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Hypochromic micr... ORPHA:97283
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Neurodegeneration And Seizures Due To Copper Transport Defect
Abnormal circulating ceruloplasmin concentration, Abnormal circulating copper concentration OMIM:620306
Primary Sclerosing Cholangitis
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... ORPHA:171
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Increased circulating ... OMIM:615846
Wilson Disease
Acute hepatic failure, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypourice... OMIM:277900
Polycythemia Vera
Hepatomegaly, Portal hypertension, Portal vein thrombosis, Splenomegaly, Acute leukemia, Weight loss ORPHA:729
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... OMIM:619381
Systemic Capillary Leak Syndrome
Leukocytosis, Pancreatitis, Weight loss ORPHA:188
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Hepatitis, Lymphadenopathy, Weight loss, Lymphocytosis ORPHA:139402
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... ORPHA:3337
Brucellosis
Hepatomegaly, Liver abscess, Small for gestational age, Elevated circulating C-reactive protein c... ORPHA:1304
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Acanthocytosis, Intrahepatic cholestasis, ... ORPHA:97280
Q Fever
Hepatomegaly, Splenomegaly, Hepatitis, Hepatosplenomegaly, Anemia, Weight loss, Abnormality of th... ORPHA:781
Renpenning Syndrome
Cachexia ORPHA:3242
Gallbladder Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Biliary tract neoplasm, Extrahepatic cholestasis, Intermit... ORPHA:100086
Pemphigus Vulgaris
Weight loss ORPHA:704
Pneumocystosis
Abnormal neutrophil count, Weight loss ORPHA:723
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:49041
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... OMIM:603041
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Intrahepatic cholestasis, Extrahepatic cho... ORPHA:97278
Juvenile Dermatomyositis
Calcinosis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive p... ORPHA:93672
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss, Chronic calcifying pancreatitis, Abnormal pancr... ORPHA:103918
Gm1 Gangliosidosis
Splenomegaly, Hepatosplenomegaly, Failure to thrive, Weight loss ORPHA:354
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Slc39A8-Cdg
Hypomanganesemia, Abnormality of the liver, Abnormal blood zinc concentration, Failure to thrive ... ORPHA:468699
Wild Type Attr Amyloidosis
Hepatomegaly, Weight loss ORPHA:330001
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Neuroendocrine Tumor Of The Colon
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100080
Poems Syndrome
Thrombocytosis, Polycythemia, Lymphadenopathy, Weight loss ORPHA:2905
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Familial Colorectal Cancer Type X
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Abnormal circulating creatine concentration,... ORPHA:440437
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Hypercalcemia, Neoplasm of the thymus, Intrahepatic chole... ORPHA:97261
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an... OMIM:614162
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrog... OMIM:219800
Tetrasomy 12P
Cachexia ORPHA:884
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Yao Syndrome
Weight loss OMIM:617321
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Lymphoid Interstitial Pneumonia
Hepatomegaly, Mediastinal lymphadenopathy, Failure to thrive, Weight loss ORPHA:79128
Perry Syndrome
Weight loss OMIM:168605
Neuroendocrine Tumor Of Stomach
Hepatomegaly, Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100075
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Hypercalcemia, Weight loss, Hypophosphatemia, Pancreatitis ORPHA:143
Juvenile Polyposis Of Infancy
Anemia, Refractory anemia, Hypoalbuminemia, Cachexia ORPHA:79076
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Neuroendocrine Tumor Of The Rectum
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:100082
Oromandibular Dystonia
Weight loss ORPHA:93958
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy, Anemia, Weight loss ORPHA:85408
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Pyomyositis
Leukocytosis, Weight loss ORPHA:764
Fatal Familial Insomnia
Weight loss OMIM:600072
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Abnormal circulating calcium concentration, Weight loss, Increased circulating surf... ORPHA:60025
Bronchial Neuroendocrine Tumor
Hepatomegaly, Chronic noninfectious lymphadenopathy, Weight loss ORPHA:97287
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Weight loss, Pancreatitis, Anemia ORPHA:36426
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Riddle Syndrome
Generalized lymphadenopathy, Elevated circulating alpha-fetoprotein concentration, Weight loss ORPHA:420741
Toxic Epidermal Necrolysis
Weight loss, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:537
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper ORPHA:457351
Rat-Bite Fever
Lymphadenitis, Pancreatitis, Anemia, Weight loss ORPHA:31205
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Exocrine pancreatic insufficiency, Weight loss ORPHA:309031
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia, Weight loss ORPHA:183
Short Syndrome
Weight loss ORPHA:3163
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the spleen, Lymphadenitis, Peritonitis, Biliary tract abnor... ORPHA:2552
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Mildly elevated creatine kinase, Weight loss OMIM:607459
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Lymphadenopathy, Extrahepatic cholestasis, Weight loss ORPHA:100078
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Giant Cell Arteritis
Mediastinal lymphadenopathy, Weight loss ORPHA:397
Zollinger-Ellison Syndrome
Jaundice, Hypercalcemia, Extrahepatic cholestasis, Weight loss ORPHA:913
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Retroperitoneal fibrosis, Ly... ORPHA:449395
Postinfectious Vasculitis
Abnormal circulating protein concentration, Viral hepatitis, Elevated circulating C-reactive prot... ORPHA:48435
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Lynch Syndrome
Neoplasm of the pancreas, Hepatocellular carcinoma, Pancreatic adenocarcinoma, Weight loss ORPHA:144
Simple Cryoglobulinemia
Viral hepatitis, Chronic lymphatic leukemia, Weight loss ORPHA:91139
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hypercalcemia, Eosinophilia, Portal hypertension, Thrombocytopeni... ORPHA:797
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Erdheim-Chester Disease
Retroperitoneal fibrosis, Anemia, Weight loss ORPHA:35687
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Malignant Atrophic Papulosis
Peritonitis, Weight loss ORPHA:679
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Granulomatosis With Polyangiitis
Granulomatosis, Weight loss OMIM:608710
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Juvenile Amyotrophic Lateral Sclerosis
Cachexia ORPHA:300605
Rett Syndrome
Cachexia OMIM:312750
Granulomatosis With Polyangiitis
Granulomatosis, Pancreatitis, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:900
Tubulointerstitial Nephritis And Uveitis Syndrome
Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circulating cr... ORPHA:91500
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenome... ORPHA:2072
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive ORPHA:90794
Mucolipidosis Type Ii
Splenomegaly, Hepatosplenomegaly, Weight loss ORPHA:576
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Cachexia, Acute leukemia, Thrombocytopenia ORPHA:647
Hermansky-Pudlak Syndrome
Neutropenia, Weight loss ORPHA:79430
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Mediastinal lymphadenopath... OMIM:181000
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Weight loss ORPHA:91347
Isolated Permanent Neonatal Diabetes Mellitus
Pancreatic hypoplasia, Failure to thrive, Reduced pancreatic beta cells, Weight loss ORPHA:99885
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Weight loss, Leukopenia, Abnormalit... ORPHA:84
Choreoacanthocytosis
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythr... ORPHA:2388
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Camurati-Engelmann Disease
Hepatomegaly, Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia ORPHA:1328
Schwartz-Jampel Syndrome
Elevated circulating creatine kinase concentration, Cachexia, Decreased body weight ORPHA:800
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Goodpasture Syndrome
Weight loss, Anemia, Increased blood urea nitrogen OMIM:233450
Igg4-Related Dacryoadenitis And Sialadenitis
Retroperitoneal fibrosis, Lymphadenopathy, Thrombocytopenia, Weight loss ORPHA:79078
Multiple Endocrine Neoplasia Type 1
Neoplasm of the pancreas, Hypercalcemia, Insulinoma, Thymoma, Weight loss ORPHA:652
Behçet Disease
Splenomegaly, Pancreatitis, Lymphadenopathy, Weight loss ORPHA:117
Occipital Horn Syndrome
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration OMIM:304150
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Decreased serum iron ORPHA:438213
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Trisomy 18
Cachexia ORPHA:3380
Nocardiosis
Lymphadenitis, Peritonitis, Liver abscess, Weight loss ORPHA:31204
Seckel Syndrome
Cachexia ORPHA:808
Cockayne Syndrome
Splenomegaly, Hyperuricemia, Cachexia, Hepatomegaly ORPHA:191
Congenital Fiber-Type Disproportion Myopathy
Failure to thrive, Weight loss ORPHA:2020
Acute Transverse Myelitis
Decreased circulating copper concentration ORPHA:139417
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Pancreatoblastoma, Neoplasm of the thymus, Leukocytosis, Increased bod... ORPHA:99889
Dermatomyositis
Abnormal eosinophil morphology, Weight loss ORPHA:221
Reactive Arthritis
Weight loss ORPHA:29207
Tropical Endomyocardial Fibrosis
Hepatomegaly, Eosinophilia, Cachexia, Splenomegaly, Hypoalbuminemia ORPHA:75565
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Cachexia ORPHA:1969
African Trypanosomiasis
Hepatomegaly, Splenomegaly, Jaundice, Hepatosplenomegaly, Lymphadenopathy, Weight loss ORPHA:3385
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Decreased plasma total carnitine, Decreased serum zinc, Abnormal circulating selenium concentration ORPHA:79408
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Chronic Graft Versus Host Disease
Pancytopenia, Weight loss ORPHA:99921
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Proteus Syndrome
Thymus hyperplasia, Cachexia, Neoplasm of the thymus, Splenomegaly, Lymphangioma ORPHA:744
Wrinkly Skin Syndrome
High nonceruloplasmin-bound serum copper ORPHA:2834
Stickler Syndrome
Slender build, Cachexia ORPHA:828
Norrie Disease
Failure to thrive, Cachexia ORPHA:649

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 Hamp

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 Hamp.

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

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