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Gene: Socs3 MGI:1201791

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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:
suppressor of cytokine signaling 3
Synonyms:
cytokine-inducible SH2 protein 3,  CIS3,  SOCS-3,  E2a-Pbx1 target gene in fibroblasts 10,  EF-10,  Cish3,  STAT-induced STAT inhibitor 3,  SSI-3

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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 Socs3 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 Socs3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Insulin resistance, Type II diabetes mellitus OMIM:125853
Fetal Cytomegalovirus Syndrome
Splenomegaly, Anemia, Hepatomegaly ORPHA:294
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Urticaria, Erythema, Telangiectasia macularis eruptiva perstans OMIM:154800
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Autosomal Erythropoietic Protoporphyria
Microcytic anemia, Erythema, Decreased liver function, Cirrhosis, Cholelithiasis, Cutaneous photo... ORPHA:79278
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmunity, Autoimmune thrombocytopenia, Splenom... ORPHA:444463
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Splenomegaly, Hepatomegaly ORPHA:2274
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Cholelithiasis, Anemia of inadequate produc... ORPHA:3202
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Erythrocytosis, Familial, 1
Plethora, Splenomegaly, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit OMIM:133100
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Cyanosis, Transient Neonatal
Reticulocytosis, Hepatomegaly, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Protoporphyria, Erythropoietic, 1
Hemolytic anemia, Erythema, Hepatic failure, Cholelithiasis OMIM:177000
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Weight loss, Increased serum serotonin, Elevated circulating ... ORPHA:100083
Orthostatic Hypotensive Disorder, Streeten Type
Bruising susceptibility, Facial erythema OMIM:143850
Hemoglobin H Disease
Hemolytic anemia, Hepatomegaly, Splenomegaly, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Congenital Atransferrinemia
Arthritis, Anemia, Abnormality of the pancreas ORPHA:1195
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Cutaneous Collagenous Vasculopathy
Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V... ORPHA:280779
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:601859
Rosaï-Dorfman Disease
Erythema, Anemia ORPHA:158014
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Erythroid... OMIM:237800
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Rheumatoid factor positive, Microcytic anemia, Antinuclear antibody positivity, Spl... OMIM:618852
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Tuberculosis
Weight loss ORPHA:3389
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmunity, Autoimmune thrombocytopenia, Follicul... OMIM:614470
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia, Hepatomegaly ORPHA:46532
Tempi Syndrome
Telangiectasia, Increased hematocrit, Polycythemia, Facial erythema ORPHA:284227
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Eczema, Neutropenia OMIM:300988
Cutaneous Photosensitivity And Colitis, Lethal
Early cutaneous photosensitivity, Erythema OMIM:219095
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, Splenomegaly, Jaund... OMIM:615631
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Increased... OMIM:615285
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Splenomegaly, Jaundice, Nonspherocytic hemolytic anemia OMIM:206400
Keratolytic Winter Erythema
Erythema OMIM:148370
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Autoimmune thrombocytopenia, Bronchiectasi... OMIM:619220
Erythema Of Acral Regions
Erythema OMIM:227000
Erythema Palmare Hereditarium
Erythema OMIM:133000
Benign Chronic Pemphigus
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Knee flexio... OMIM:604416
Erythema Nodosum, Familial
Erythema OMIM:132990
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Ery... OMIM:603902
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Classic Mycosis Fungoides
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Abnormal lymphocyte morphology, Dry skin ORPHA:2584
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Glomerulonephritis, Decreased proportion of marginal zone B cells, Autoimmune throm... OMIM:619375
Cutaneous Small Vessel Vasculitis
Urticaria, Erythema, Cutis marmorata, Purpura ORPHA:889
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Petechiae, Reduced platelet ... OMIM:314050
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Pa... OMIM:269840
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Neutropenia in presence of anti-neutropi... ORPHA:231154
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Anemia OMIM:618963
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase... OMIM:617514
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Dermatitis Herpetiformis
Urticaria, Skin vesicle, Erythema, Microcytic anemia ORPHA:1656
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c... OMIM:607850
Peeling Skin Syndrome 2
Erythema, Scaling skin OMIM:609796
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Erythrocytosis, Familial, 2
Increased red blood cell mass, Increased hematocrit, Plethora, Increased hemoglobin OMIM:263400
Abcd Syndrome
Neonatal death, Polycythemia OMIM:600501
Maculopapular Cutaneous Mastocytosis
Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flushing ORPHA:79457
Hydroa Vacciniforme
Erythema, Hydroa vacciniforme, Telangiectasia of the skin, Cutaneous photosensitivity ORPHA:330058
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency 42
Hepatomegaly, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of the thymus, Recu... OMIM:616622
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Skin rash, Splenomegaly, Jaundice, Lymphadenopathy, Anemia, Conjunctivitis, Hemopha... OMIM:603552
Necrobiosis Lipoidica
Telangiectasia of the skin, Erythema, Skin ulcer, Abnormality of neutrophil physiology, Fragile skin ORPHA:542592
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia... OMIM:607594
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Acanthocytosis, Splenomegaly, Jaundice, Increase... OMIM:616689
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Autoimmune Lymphoproliferative Syndrome, Type Iia
Rheumatoid factor positive, Iron deficiency anemia, Increased circulating IgG level, Platelet ant... OMIM:603909
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Reduced red cell pyruvate kinase ... ORPHA:766
Hypermanganesemia With Dystonia 1
Elevated hepatic transaminase, Hepatomegaly, Decreased liver function, Cirrhosis, Polycythemia OMIM:613280
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Recurrent pneumonia, Monocytosi... OMIM:619281
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema OMIM:617526
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Lymphadenopathy, Inc... ORPHA:100024
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, In... OMIM:615559
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Keratolytic Winter Erythema
Erythema ORPHA:50943
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... OMIM:266200
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Cutaneous Mastocytoma
Telangiectasia of the skin, Angioedema, Erythema, Darier's sign, Flushing, Dermatographic urticar... ORPHA:79455
Leptin Deficiency Or Dysfunction
Hypogonadism, Obesity, Decreased serum leptin OMIM:614962
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Arthritis, Lymphopenia, Eosinophilia, Limitation of joint mobility ORPHA:2582
Immunodeficiency 27A
Increased inflammatory response, Rheumatoid factor positive, Pneumonia, Splenomegaly, Leukocytosi... OMIM:209950
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Erythema, Scaling skin, Dry skin ORPHA:530838
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis, Autoimmunity OMIM:216950
Tyrosinemia Type 1
Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Rickets of the lower limbs ORPHA:882
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin-resistant diabetes mellitus, Weight loss ORPHA:411593
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Sinusitis, Eosinophilia, Pneumonia, Splenomegaly, Bronchiectasis, Ane... OMIM:226990
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Splenomegaly, Leukocytosis, Lymphadenopa... ORPHA:37748
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia, Hepatomegaly OMIM:607685
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibo... OMIM:613101
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, T lymphocytopenia, Colitis, B lymphocytopenia... OMIM:619164
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenom... OMIM:150550
Livedoid Vasculopathy
Pancytopenia, Cutis marmorata, Telangiectasia of the skin, Poor wound healing, Leukocytosis, Skin... ORPHA:542643
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti... OMIM:300853
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Lymph... ORPHA:397596
Immunodeficiency 7
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Hypereosinophilia, Neutrop... OMIM:615387
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Acne, Recurrent skin infections, Erythema nodosum, S... OMIM:300635
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... OMIM:612690
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Erythema nodosum, Splenomegaly, Leukocytosis, Lymphadenopathy, Arthritis, Recurrent ap... OMIM:611762
Ichthyosis, Congenital, Autosomal Recessive 14
Erythema, Scaling skin OMIM:617571
Immunodeficiency, Common Variable, 2
Hepatomegaly, Autoimmunity, Impaired T cell function, Follicular hyperplasia, Splenomegaly, Recur... OMIM:240500
Immunodeficiency 98 With Autoinflammation, X-Linked
Decreased circulating IgG level, Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomeg... OMIM:301078
Idiopathic Achalasia
Weight loss ORPHA:930
Acral Peeling Skin Syndrome
Erythema, Scaling skin, Excessive wrinkling of palmar skin ORPHA:263534
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclea... OMIM:152700
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular hemoglobin concentration, Anisocyto... ORPHA:3203
Acquired Ichthyosis
Erythema, Dry skin ORPHA:454
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
C1Q Deficiency 2
Vasculitis in the skin, Anemia, Facial erythema OMIM:620321
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Scaling skin ORPHA:90158
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Hemolytic anemia, Jaundice, Reticulocytosis ORPHA:33574
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435651
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Absent circulating B cel... OMIM:620282
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Maturity-onset diabetes of the young, Maternal diabetes, Abnormality of body m... OMIM:616329
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Autoimmunity, Sple... OMIM:618495
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Hepatomegaly, Ul... OMIM:228000
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, ... ORPHA:100026
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis OMIM:269600
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Sjögren-Larsson Syndrome
Urticaria, Erythema, Dry skin ORPHA:816
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Pericarditis, Hepatomegaly, Skin rash, Autoimmunity, Splenomegaly, Lymphadenopa... ORPHA:85414
Sydenham Chorea
Erythema ORPHA:306731
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes me... ORPHA:79085
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Autoimmunity, Splenomegaly, Abnormal joint m... ORPHA:47612
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Mast Cell Sarcoma
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis ORPHA:66661
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Mal De Meleda
Perioral erythema OMIM:248300
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Absence of lymph node germinal center, Impaired memory B ... OMIM:606843
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, N... OMIM:235700
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Splenomegaly, Osteoporosis, Lymphadenopathy, In... ORPHA:98848
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Decreased adiponectin level, Decreas... ORPHA:435660
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Mal De Meleda
Erythema ORPHA:87503
Body Mass Index Quantitative Trait Locus 19
Hyperinsulinemia, Obesity, Increased serum leptin OMIM:617885
Atrophoderma Vermiculata
Erythema ORPHA:79100
Bullous Impetigo
Erythema ORPHA:36237
Erythrokeratodermia Variabilis
Cutaneous photosensitivity, Dry skin, Erythema ORPHA:317
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating IgG level, Hepatomegaly, Autoimmune hemolytic anemia, Atrophic gastritis, P... OMIM:616100
Familial Cold Autoinflammatory Syndrome 3
Dermatographic urticaria, Angioedema, Erythema, Cold urticaria OMIM:614468
Chronic Hiccup
Weight loss ORPHA:396
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Increased circulating IgM level, Recurrent aphthous stoma... ORPHA:2688
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Autoimmune hemolytic anemia, Erythema, Hepatomegaly OMIM:619183
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased adiponectin level, Decreased serum leptin OMIM:615238
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Isaacs Syndrome
Weight loss ORPHA:84142
Neutrophilic Dermatosis, Acute Febrile
Erythema, Pyoderma gangrenosum, Anemia OMIM:608068
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Caspase 8 Deficiency
Decreased circulating IgG level, Complete or near-complete absence of specific antibody response ... OMIM:607271
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Immunodeficiency 60 And Autoimmunity
Decreased circulating IgG level, Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, ... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, T lymphocytopenia, Arthritis, B lymphocytopenia, Conjunctivitis, Ot... OMIM:601457
Sting-Associated Vasculopathy, Infantile-Onset
Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, Leukopenia, Thrombocytosis, Lympho... OMIM:615934
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Increased mean corpuscular hemoglobin conc... OMIM:194380
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Diencephalic Syndrome
Abnormality of the hypothalamus-pituitary axis, Cachexia, Decreased body weight ORPHA:1672
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibro... OMIM:557000
Pfapa Syndrome
Hepatomegaly, Splenomegaly, Lymphadenopathy, Arthritis, Infectious encephalitis ORPHA:42642
Neonatal Severe Primary Hyperparathyroidism
Splenomegaly, Recurrent fractures, Hepatomegaly ORPHA:417
Aicardi-Goutieres Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Petechiae, Splenomegaly, Erythema, Prolonged neonata... OMIM:225750
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Eosinophilia OMIM:147060
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mulibrey Nanism
Cachexia ORPHA:2576
Lig4 Syndrome
Hepatomegaly, Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Acute leukemia, C... ORPHA:99812
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Urticaria, Angioedema, Erythema ORPHA:100057
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Erythema, ... ORPHA:829
Cinca Syndrome
Skin rash, Eosinophilia, Leukocytosis, Patellar overgrowth, Uveitis, Hepatosplenomegaly, Lymphade... OMIM:607115
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Snakebite Envenomation
Ecchymosis, Angioedema, Erythema, Thrombocytopenia ORPHA:449285
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Hepatomegaly, Decreased circulating IgG level, Recurrent skin infections, Join... OMIM:620210
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Cholangitis, Erythema OMIM:614204
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Splenomegaly, Fetal ascites, Hepatomegaly OMIM:619462
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Decreased circulating antibody level, Conjunctivitis,... OMIM:616740
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Eczema, Anemia of inadequate production, Megaloblastic anemia, A... OMIM:617780
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Anisocytosis, S... OMIM:224120
Moynahan Syndrome
Hypogonadism, Cachexia ORPHA:2574
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Ascites, Anemia ORPHA:100025
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:616649
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis, Lymphadenopathy OMIM:617772
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Cholelithiasis OMIM:182900
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology, Necrolytic migratory... ORPHA:438274
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis OMIM:612653
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Reduced natural killer cell ac... OMIM:308240
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... OMIM:300908
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Acute pancreatitis, Rheumatoid factor positive, Eczema, Abscess, Perianal absce... OMIM:618935
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Splenomegaly, Micronodular cirr... ORPHA:309854
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Stomatitis, Autoimmunity, Autoimmune thr... OMIM:613011
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Petechiae, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Splenomegaly, Portal hypertension, Hepatomegaly OMIM:610293
Macrophage Activation Syndrome
Increased inflammatory response, Hepatomegaly, Autoimmunity, Splenomegaly, Hepatitis, Systemic lu... ORPHA:158061
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Harderoporphyria
Hemolytic anemia, Hepatomegaly, Reticulocytosis, Splenomegaly, Prolonged neonatal jaundice, Cutan... OMIM:618892
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Peritonitis, Erythema, Urticaria, Acrocyanosis, Purpura ORPHA:343
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri... ORPHA:85408
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, B Acu... OMIM:619824
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Cachexia, Flexion contracture, W... ORPHA:1979
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Thrombocytopenia OMIM:615010
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Scaling skin, Erythema, Lack of facial subcutaneous fat ORPHA:90156
Familial Cold Urticaria
Urticaria, Erythema ORPHA:47045
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatomegaly, Anisocytosis, Splenomegaly, Jaundice, Hepatosplenomegaly, Decreased mean corpuscula... OMIM:616860
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Lymphadenopa... ORPHA:3226
Cryohydrocytosis
Splenomegaly, Hemolytic anemia, Stomatocytosis, Reticulocytosis OMIM:185020
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Pancytopenia, Autoimmunity, Splenomegaly, Panniculitis, Hemophagocytosis, Anemia OMIM:618398
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Cutaneous photosensitivity, Erythema, Fragile skin, Telangiectasia ORPHA:158673
Hypercalcemia, Infantile, 1
Failure to thrive, Decreased circulating parathyroid hormone level, Weight loss OMIM:143880
Glutamine Deficiency, Congenital
Neonatal death, Erythema OMIM:610015
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Splenomegaly, Jaundice, Stomatocytosis, Increase... OMIM:185000
Bullous Pemphigoid
Urticaria, Erythema ORPHA:703
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Pancytopenia, Generalized lymphadenopathy, Impaired neutrophil c... OMIM:618986
Autoimmune Hepatitis
Liver kidney microsome type 1 antibody positivity, Fulminant hepatitis, Increased circulating IgG... ORPHA:2137
Portal Hypertension, Noncirrhotic, 1
Splenomegaly, Portal hypertension, Hepatomegaly OMIM:617068
Hypertriglyceridemia, Transient Infantile
Splenomegaly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly OMIM:614480
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Eosinophilia, Angioedema, Erythema, Hepatit... ORPHA:139402
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Mednik Syndrome
Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death OMIM:609313
Congenital Bile Acid Synthesis Defect Type 1
Hepatomegaly, Splenomegaly, Jaundice, Biliary tract abnormality, Osteoporosis, Cirrhosis, Neonata... ORPHA:79301
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Eczema, Autoimmune thrombocytopenia, Glomerulonephritis, Increased circulating IgE ... OMIM:304790
Splenoportal Vascular Anomalies
Anomalous splenoportal venous system, Splenomegaly, Hepatic fibrosis, Cirrhosis, Ascites OMIM:271500
Hypotrichosis 6
Erythema OMIM:607903
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Bone Marrow Failure Syndrome 6
Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellu... OMIM:618849
Progressive Familial Intrahepatic Cholestasis
Hepatomegaly, Splenomegaly, Jaundice, Cholestasis, Reduced bone mineral density ORPHA:172
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Pneumonia, Spleno... OMIM:602450
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 36 With Lymphoproliferation
Decreased circulating IgG level, Autoimmunity, Splenomegaly, Enlarged tonsils, Bronchiectasis, Ch... OMIM:616005
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Sea-blue histiocytosis, Blepharitis, Thr... ORPHA:158029
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... ORPHA:288
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
Polyarteritis Nodosa
Erythema, Cutis marmorata, Skin ulcer ORPHA:767
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Ichthyosis, Annular Epidermolytic, 2
Erythema, Scaling skin OMIM:620148
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Nodular Non-Suppurative Panniculitis
Splenomegaly, Erythema, Hepatomegaly ORPHA:33577
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Erythema, Decreased proportion of class-switched memory B cells OMIM:614878
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Pneumonia, Periodontitis, Reduction of neutrophil motility, Recurrent otitis media OMIM:266265
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Weight loss, Pheochromocytoma, Elevated circulating calcitonin conce... ORPHA:1332
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Hepatoportal Sclerosis
Anticardiolipin IgG antibody positivity, Portal hypertension, Hypersplenism, Splenomegaly, Portal... ORPHA:64743
Osteopetrosis, Autosomal Dominant 3
Osteopenia, Hepatomegaly, Recurrent fractures, Splenomegaly, Anemia OMIM:618107
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Fumarase Deficiency
Reduced subcutaneous adipose tissue, Intrahepatic cholestasis, Pallor, Hepatic failure, Polycythemia OMIM:606812
Central Diabetes Insipidus
Failure to thrive, Diabetes insipidus, Weight loss ORPHA:178029
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Pruritic Urticarial Papules And Plaques Of Pregnancy
Skin vesicle, Palmoplantar erythema, Striae distensae, Facial erythema ORPHA:64745
Hemochromatosis, Type 3
Arthritis, Cirrhosis, Neutropenia, Lymphopenia, Anemia OMIM:604250
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Erythema, Dry skin, Scaling skin OMIM:614457
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Myositis, Sinusitis, Skin rash, Splenomegaly, Flexion contracture, Lymphadenopathy,... OMIM:617591
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Cirrhosis, Arthritis OMIM:602390
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Prolidase Deficiency
Hepatomegaly, Splenomegaly, Erythema, Skin ulcer, Cutaneous photosensitivity, Dry skin ORPHA:742
Gray Platelet Syndrome
Splenomegaly, Thrombocytopenia ORPHA:721
Cold Agglutinin Disease
Hemolytic anemia, Hepatomegaly, Autoimmunity, Splenomegaly, Lymphadenopathy ORPHA:56425
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Lymphadenopathy, Anemia... ORPHA:507
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Spleno... ORPHA:822
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Splenomegaly, Jaundice, Cirrhosis, Erysipelas, Neonatal cholestatic liver disease OMIM:214900
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Autoimmunity, Skin rash, Abnorma... ORPHA:47
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Autoimmune hemolytic anemia, Increased circulating IgA level, Antinuclear antibody ... OMIM:617388
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Amyloidosis, Familial Visceral
Splenomegaly, Skin rash, Cholestasis, Hepatomegaly OMIM:105200
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, D... ORPHA:275
Immunodeficiency, Common Variable, 7
Splenomegaly, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic par... OMIM:614699
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Perianal erythema, Splenomegaly, Perioral erythema, Dry skin OMIM:201100
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Hepatomegaly, Skin rash, Allergic rhinitis, Anemia of inadequate production, Splenome... OMIM:612714
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Focal Myositis
Weight loss ORPHA:48918
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Splenomegaly, Increased bone mineral density, Hepatomegaly ORPHA:2204
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Weight loss ORPHA:33355
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Lymphaden... ORPHA:69126
Hemochromatosis, Type 2B
Hepatomegaly, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia OMIM:613313
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity OMIM:278760
Poems Syndrome
Thrombocytosis, Acrocyanosis, Polycythemia ORPHA:2905
Vulvovaginal Gingival Syndrome
Erythema ORPHA:83453
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Portal hypertension, Thrombocytopenia, ... ORPHA:824
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Erythema, Vasculitis in the skin, Neutropenia, Lymphopenia OMIM:615816
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Omenn Syndrome
Hepatomegaly, Eosinophilia, Pneumonia, Autoimmunity, Splenomegaly, Leukocytosis, Thyroiditis, Lym... ORPHA:39041
Mycosis Fungoides
Erythema OMIM:254400
Majeed Syndrome
Hepatomegaly, Increased bone mineral density, Inflammatory abnormality of the skin, Acne, Osteomy... ORPHA:77297
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Jaundice, Spherocytosis, Hepa... ORPHA:71275
Glut1 Deficiency Syndrome 2
Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:612126
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Autoimmune Lymphoproliferative Syndrome
Rheumatoid factor positive, Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Inc... ORPHA:3261
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Fountain Syndrome
Erythema, Spina bifida occulta, Cutis marmorata, Spina bifida ORPHA:3219
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Hepatitis, Reduced bone miner... ORPHA:848
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Polycythemia, Hepatic hemangioma, Pancreatic cysts OMIM:193300
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Pericarditis, Abnormal hemoglobin, Splenomegaly, Anemia ORPHA:163596
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
Familial Benign Chronic Pemphigus
Skin vesicle, Erythema ORPHA:2841
Cinca Syndrome
Joint dislocation, Hepatomegaly, Abnormality of neutrophils, Delayed closure of the anterior font... ORPHA:1451
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu... ORPHA:227990
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Pallor OMIM:611590
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Skin vesicle, Skin fragility with non-scarring blistering, Erythema migrans ORPHA:158681
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Neutrophilia, Osteomyelitis, Skin rash, Abscess, Pustule, Splenomegaly,... OMIM:612852
Griscelli Syndrome Type 2
Hepatomegaly, Pancytopenia, Splenomegaly, Jaundice, Lymphadenopathy, Hemophagocytosis, Neutropenia ORPHA:79477
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema OMIM:614328
Mody
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... ORPHA:552
Huntington Disease-Like 2
Weight loss OMIM:606438
Ichthyosis, Annular Epidermolytic, 1
Erythema, Scaling skin OMIM:607602
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Maculopapular exanthema, Skin rash... ORPHA:398124
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Bronchiectasis, Cirrhosis, Hepatocellular carcinoma OMIM:613490
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Splenomegaly, Anemia, Neutropenia, Pancreatitis, Thrombocytopenia ORPHA:79312
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Oligoarticular Juvenile Idiopathic Arthritis
Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno... ORPHA:85410
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Bile Acid Synthesis Defect, Congenital, 5
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... OMIM:616278
Interstitial Granulomatous Dermatitis With Arthritis
Erythema ORPHA:79099
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema OMIM:613943
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Idiopathic Aplastic Anemia
Pancytopenia, Autoimmune antibody positivity, Reticulocytopenia, Anemia, Bone marrow hypocellular... ORPHA:88
Microscopic Polyangiitis
Cutis marmorata, Peritonitis, Erythema, Skin ulcer, Pancreatitis, Subcutaneous hemorrhage ORPHA:727
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hepatomegaly, Splenomegaly, Decreased mean corpuscular volume, Poikilocytosis, Elevated hepatic i... OMIM:615234
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Erythema, Skin ulcer, Anemia, Neutropenia, ... ORPHA:537
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Macrocytic anemia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmu... ORPHA:227982
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Splenomegaly, Interstitial pneumonitis, Anemia, Hepatomegaly OMIM:620296
Elliptocytosis 1
Splenomegaly, Hemolytic anemia, Jaundice, Elliptocytosis OMIM:611804
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Splenomegaly, Jaundice, Cholestasis, Hepatic fibrosis, Hepatic bridging fibrosis OMIM:619658
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Leukocytosis, Decreased circulating antibody level OMIM:618042
Follicular Lymphoma
Abnormal peritoneum morphology, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:545
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Eosinophilic Fasciitis
Fasciitis, Cellulitis, Weight loss ORPHA:3165
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:617243
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Splenomegaly, Limitation of joint mobility, Rhinitis ORPHA:93476
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Cholestasis-Lymphedema Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Abnormality of the lymphatic system, B... ORPHA:1414
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Erythema, Urticaria, Skin vesicle, Mastocytosis ORPHA:2135
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Abnormality of neutrophils, Thrombocytopeni... ORPHA:36426
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Pancytopenia, Increased bone mineral density, Hypersplenism, Splenomega... ORPHA:77259
Pituitary Adenoma 4, Acth-Secreting
Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility, Striae distensae, Purpura OMIM:219090
Pyoderma Gangrenosum
Myositis, Pustule, Inflammation of the large intestine, Increased circulating antibody level, Rhe... ORPHA:48104
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Enterocolitis, Anemi... OMIM:616050
Ogden Syndrome
Redundant neck skin, Prematurely aged appearance, Redundant skin, Facial wrinkling, Microvesicula... OMIM:300855
Beta-Thalassemia Intermedia
Osteopenia, Increased HbA2 hemoglobin, Hepatomegaly, Extramedullary hematopoiesis, Anemia of inad... ORPHA:231222
Cholestasis, Progressive Familial Intrahepatic, 9
Hepatomegaly, Malformation of the hepatic ductal plate, Portal hypertension, Splenomegaly, Intrah... OMIM:619849
Classic Hodgkin Lymphoma
Hepatomegaly, Skin rash, Splenomegaly, Osteolysis, Lymphadenopathy, Bone marrow hypocellularity ORPHA:391
Complex Regional Pain Syndrome
Erythema, Dry skin ORPHA:83452
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema OMIM:617525
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hepatocellular carcinoma, Thrombocytopenia, Splenomegaly, H... ORPHA:158057
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233710
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Splenomegaly, Uveitis, Arthritis,... ORPHA:575
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Membranoproliferative glomerulonephritis, Maculopapular exanthema, Re... OMIM:619644
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Lymphadenopathy, Dec... ORPHA:381
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Finge... OMIM:187300
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... ORPHA:2298
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Erythema, Extrahepatic cholesta... ORPHA:97282
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Splenomegaly, Leukocytosis, Lymphadenit... OMIM:260920
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Autoimmunity, Splenomegaly, Jaundice, Systemic lupus erythematosus, ... ORPHA:90033
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Reticulocytosis OMIM:130600
Perry Syndrome
Weight loss ORPHA:178509
Wilson Disease
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Anemia, Arthritis, Joint swelling, Cirrhosis, Ac... ORPHA:905
Familial Tumoral Calcinosis
Splenomegaly, Erythema, Hepatomegaly ORPHA:53715
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis OMIM:270150
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Jaundice, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Familial Pseudohyperkalemia
Reticulocytosis, Episodic hemolytic anemia, Stomatocytosis, Increased mean corpuscular volume ORPHA:90044
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Leukocytosis, Lymphadenopathy, Joint sw... OMIM:617099
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Autoimmunity, Gastritis, Joint stiffness, He... ORPHA:809
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:233690
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Activating thyroi... ORPHA:424
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Anti-acetylcholine receptor antibody positivit... ORPHA:589
Q Fever
Rheumatoid factor positive, Abnormality of the liver, Cholecystitis, Lupus anticoagulant, Infecti... ORPHA:781
Bloom Syndrome
Elevated hemoglobin A1c, Facial erythema, Facial telangiectasia in butterfly midface distribution... OMIM:210900
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Diabetes melli... ORPHA:280365
Secondary Non-Traumatic Avascular Necrosis
Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus ORPHA:399180
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Cholestasis, Bile duct prol... OMIM:616217
Letterer-Siwe Disease
Seborrheic dermatitis, Jaundice, Hepatosplenomegaly, Anemia, Neutropenia, Stomatitis, Thrombocyto... OMIM:246400
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema OMIM:615821
Immunoglobulin A Vasculitis
Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility, Vascular skin abnormality, ... ORPHA:761
Subcorneal Pustular Dermatosis
Autoimmunity, Pustule, Systemic lupus erythematosus, Increased circulating antibody level, Rheuma... ORPHA:48377
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the pancreas, Abnormality of the lymph... ORPHA:54251
Superficial Epidermolytic Ichthyosis
Erythema ORPHA:455
Melioidosis
Foot osteomyelitis, Brain abscess, Liver abscess, Lung abscess, Pneumonia, Abnormality of the spl... ORPHA:31202
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... ORPHA:293173
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema OMIM:606545
Urachal Cyst
Leukocytosis, Peritonitis, Erythema ORPHA:488
Aredyld Syndrome
Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Type II diabetes mellitus, Type I diabe... ORPHA:1133
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Portal hypertension, Nodular regenerative hyperplasia of liver, Splenomegaly, Hepat... OMIM:619463
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Sinusitis, Pneumonia, Pure red cell aplasia, Autoimmune thrombocytop... OMIM:613179
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Reduced natural killer cell activity, Splenomeg... ORPHA:540
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor, Polycythemia ORPHA:892
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Arthritis, Stomatocytosis, Epis... OMIM:210250
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Hemolytic anemia, Reticulocytosis OMIM:300653
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Flexion contracture, Arthrog... ORPHA:85212
Pleural Mesothelioma
Weight loss ORPHA:50251
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Sinusitis, Hepatomegaly, Autoimmune thrombocytopenia, Decreased circula... OMIM:102700
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema OMIM:104100
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Erythema, Anemia, Leukopenia, Lymphocy... ORPHA:50918
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Anti-thyroid peroxidase antibody positivity, Iron deficiency anemia, Tubulointerstitial... ORPHA:37042
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Juvenile Huntington Disease
Weight loss ORPHA:248111
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Liposarcoma
Weight loss ORPHA:69078
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Pancytopenia, Erythema OMIM:618321
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Weight loss,... ORPHA:171876
Chronic Mucocutaneous Candidiasis
Erythema, Hepatitis, Skin ulcer ORPHA:1334
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Splenomegaly, Jaundice... OMIM:211600
Thymoma
Myositis, Aplastic anemia, Autoimmunity, Pure red cell aplasia, Glomerulonephritis, Anti-acetylch... ORPHA:99867
Wolman Disease
Hepatomegaly, Bone-marrow foam cells, Splenomegaly, Ascites, Anemia ORPHA:75233
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Splenomegaly, Acute myelomonocytic leukemia, Lymphocytosis,... ORPHA:86843
Fish-Eye Disease
Splenomegaly, Lymphadenopathy, Hepatomegaly ORPHA:79292
Rheumatoid Arthritis
Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join... OMIM:180300
Prolidase Deficiency
Hepatomegaly, Eczema, Splenomegaly, Recurrent pneumonia, Crusting erythematous dermatitis, System... OMIM:170100
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Erythema, Skin ulcer ORPHA:659
Short Fifth Metacarpals-Insulin Resistance Syndrome
Splenomegaly, Spherocytosis ORPHA:66518
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Cap Polyposis
Weight loss ORPHA:160148
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Erythema, Generalized abnormality of skin, Fragile skin, Anemia ORPHA:79396
Pemphigus Foliaceus
Skin vesicle, Erythema, Scaling skin ORPHA:79481
Chronic Granulomatous Disease
Hepatomegaly, Sinusitis, Liver abscess, Eczema, Abnormality of neutrophils, Splenomegaly, Mediast... ORPHA:379
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Splenomegaly, Lymphadenopathy, Erythroderma, Abnorma... ORPHA:3162
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Acanthocytosis, Necrolytic migratory erythema, Intrahepat... ORPHA:97280
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Hepatomegaly, Pneumonia, Autoimmunity, Splenomegaly, Lymphadenopathy, Chronic o... ORPHA:169090
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Acrodermatitis Enteropathica
Dry skin, Erythema, Generalized abnormality of skin, Skin ulcer ORPHA:37
Cholestasis, Progressive Familial Intrahepatic, 3
Hepatomegaly, Splenomegaly, Jaundice, Intrahepatic cholestasis, Portal inflammation, Portal fibro... OMIM:602347
Flynn-Aird Syndrome
Abnormality of the thyroid gland, Primary adrenal insufficiency, Type II diabetes mellitus, Cachexia ORPHA:2047
Spondyloenchondrodysplasia With Immune Dysregulation
Pneumonia, Autoimmunity, Autoimmune thrombocytopenia, Antinuclear antibody positivity, Systemic l... OMIM:607944
Familial Glucocorticoid Deficiency
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating cortisol level,... ORPHA:361
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Brucellosis
Liver abscess, Rheumatoid factor positive, Knee osteoarthritis, Leukopenia, Abnormality of the li... ORPHA:1304
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hepatomegaly, Thr... OMIM:214500
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hernia, Weight loss ORPHA:1842
Overlap Myositis
Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste... ORPHA:206572
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Juvenile Dermatomyositis
Telangiectasia of the skin, Erythema, Dry skin, Skin ulcer, Cutaneous photosensitivity, Mucosal t... ORPHA:93672
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Leukopenia, Lupus anticoagulant, Hashimoto thyroiditis, Hepatomegaly, Portal hypertension, Leukoc... OMIM:615688
Sclerosing Cholangitis, Neonatal
Hepatomegaly, Portal hypertension, Hepatic bridging fibrosis, Splenomegaly, Jaundice, Biliary cir... OMIM:617394
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Jau... OMIM:603903
Anaplastic Thyroid Carcinoma
Goiter, Nodular goiter, Anaplastic thyroid carcinoma, Weight loss ORPHA:142
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia ORPHA:1389
Riboflavin Transporter Deficiency
Hypogonadism, Diabetes insipidus, Cachexia ORPHA:97229
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Facial erythema OMIM:612843
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Erythema, Redundant skin, Flushing OMIM:259100
Kasabach-Merritt Syndrome
Reticulocytosis, Petechiae, Thrombocytopenia, Leukopenia, Hepatic hemangioma, Microangiopathic he... ORPHA:2330
Cholesteryl Ester Storage Disease
Hepatomegaly, Bone-marrow foam cells, Portal hypertension, Hypersplenism, Thrombocytopenia, Splen... OMIM:278000
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia ORPHA:90037
Ornithine Transcarbamylase Deficiency
Splenomegaly ORPHA:664
Melas
Erythema, Recurrent pancreatitis, Anemia ORPHA:550
Rothmund-Thomson Syndrome Type 2
Aplastic anemia, Erythema, Facial erythema, Neutropenia, Leukemia, Anemia ORPHA:221016
Bronchial Neuroendocrine Tumor
Elevated circulating growth hormone concentration, Increased circulating ACTH level, Pulmonary ca... ORPHA:97287
Incontinentia Pigmenti
Telangiectasia of the skin, Eosinophilia, Erythema, Skin ulcer, Umbilical hernia, Spina bifida oc... ORPHA:464
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Neutrophilia, Acn... ORPHA:3243
Ichthyosis, Congenital, Autosomal Recessive 2
Erythema OMIM:242100
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Arthritis, Keratoconjun... ORPHA:91138
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Osteosarcoma
Weight loss ORPHA:668
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Increased bone mineral density, Osteomyelitis, Craniosynostosis, Sple... OMIM:259700
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
American Trypanosomiasis
Hepatomegaly, Skin rash, Splenomegaly, Myocarditis, Autoimmune antibody positivity, Lymphadenopat... ORPHA:3386
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Leukocytosis, Peritonitis, Erythema, Bruising susceptibility ORPHA:32960
Beckwith-Wiedemann Syndrome
Hepatomegaly, Redundant skin, Splenomegaly, Large placenta, Abnormal pancreas morphology, Hepatob... ORPHA:116
Angioedema, Hereditary, 1
Angioedema, Erythema OMIM:106100
Short Syndrome
Inguinal hernia, Diabetes mellitus, Lipodystrophy, Abnormal dental enamel morphology, Weight loss ORPHA:3163
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Cachexia, Weight loss ORPHA:298
Ifap Syndrome 2
Perioral erythema OMIM:619016
Hermansky-Pudlak Syndrome 2
Chronic oral candidiasis, Absent platelet dense granules, Hepatomegaly, Decreased CD4:CD8 ratio, ... OMIM:608233
Christianson Syndrome
Arthrogryposis multiplex congenita, Cachexia ORPHA:85278
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Rickets, Ac... OMIM:607765
Granulomatous Disease, Chronic, X-Linked
Recurrent bacterial skin infections, Hepatomegaly, Osteomyelitis, Liver abscess, Discoid lupus ra... OMIM:306400
Focal Dermal Hypoplasia
Acute hepatic failure, Telangiectasia of the skin, Spina bifida, Erythema, Umbilical hernia ORPHA:2092
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Jaundice, Schistocytosis, Microangiopathic hemolytic anemia, Prolonged neonatal ... OMIM:274150
Mcdonough Syndrome
Cachexia ORPHA:2471
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... OMIM:153670
Incontinentia Pigmenti
Leukocytosis, Erythema, Eosinophilia, Pallor OMIM:308300
Neuroendocrine Tumor Of The Colon
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100080
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Paraganglioma, Weight loss ORPHA:94080
Familial Mediterranean Fever
Hepatomegaly, Pericarditis, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Peritonitis, Arth... OMIM:249100
Keppen-Lubinsky Syndrome
Lack of facial subcutaneous fat, Decreased serum leptin, Absence of subcutaneous fat, Flexion con... OMIM:614098
Cholestasis, Progressive Familial Intrahepatic, 2
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Intermittent jaundice, Cirrhosis, Hepatocel... OMIM:601847
Leukocyte Adhesion Deficiency
Acute myeloid leukemia, Leukocytosis, Peritonitis, Pyoderma gangrenosum, Abnormality of neutrophi... ORPHA:2968
Transgrediens Et Progrediens Palmoplantar Keratoderma
Facial erythema ORPHA:495
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Umbilical hernia, Mild intrauterine growth retardation, Stillbirth, Erythema OMIM:308050
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Palmoplantar erythema, Palmoplantar scaling skin, Fragile skin OMIM:605676
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Skin rash, Reduced natural killer cell activity, Splenomegaly, Jaundi... OMIM:603553
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Pathologic fracture, Thrombocyto... OMIM:230800
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Bronchiectasis, Decreased circulating antibody level, Agammaglobulinemia, Co... OMIM:601495
Rhabdoid Tumor
Weight loss ORPHA:69077
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Cachexia OMIM:616801
Isolated Succinate-Coq Reductase Deficiency
Knee flexion contracture, Weight loss ORPHA:3208
Inflammatory Pseudotumor Of The Liver
Diabetes mellitus, Weight loss ORPHA:90003
Myelofibrosis
Splenomegaly, Myeloproliferative disorder OMIM:254450
Common Variable Immunodeficiency
Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Splenomegaly, Bronchiectasis, Lymphaden... ORPHA:1572
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis ORPHA:713
Acquired Hypertrichosis Lanuginosa
Weight loss ORPHA:2221
Odontoonychodermal Dysplasia
Palmoplantar erythema, Erythema, Dry skin OMIM:257980
Renpenning Syndrome
Diabetes mellitus, Cachexia ORPHA:3242
Rothmund-Thomson Syndrome Type 1
Aplastic anemia, Facial erythema, Telangiectasia, Neutropenia, Leukemia, Anemia ORPHA:221008
Dermatomyositis
Abnormal eosinophil morphology, Telangiectasia of the skin, Erythema, Skin ulcer, Dry skin, Cutan... ORPHA:221
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Huntington Disease
Decreased body mass index, Weight loss ORPHA:399
Blau Syndrome
Splenomegaly, Erythema, Skin ulcer, Abnormality of the liver, Dry skin, Anemia ORPHA:90340
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Nephroblastoma
Weight loss ORPHA:654
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Diabetes mellitus, Lipodystrophy, Reduced intraabdominal adi... OMIM:608594
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:200400
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Pituitary adenoma, Decreased circulatin... ORPHA:199299
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Purpura OMIM:235400
Carney-Stratakis Syndrome
Paraganglioma, Weight loss ORPHA:97286
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Autoimmunity, Autoimmune thrombo... ORPHA:1855
Hereditary Acrokeratotic Poikiloderma
Urticaria, Erythema, Telangiectasia of the skin, Skin ulcer ORPHA:2907
Rett Syndrome
Failure to thrive, Increased serum leptin ORPHA:778
Budd-Chiari Syndrome
Hepatomegaly, Portal hypertension, Splenomegaly, Peritonitis, Jaundice, Cholecystitis, Cirrhosis,... ORPHA:131
Ppoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Abnormality of the thyroi... ORPHA:97278
Huntington Disease-Like 1
Weight loss ORPHA:157941
Infantile Liver Failure Syndrome 3
Hepatomegaly, Abnormal acetabulum morphology, Splenomegaly, Jaundice, Cholestasis, Hepatic bridgi... OMIM:618641
Chronic Beryllium Disease
Weight loss ORPHA:133
Xeroderma Pigmentosum
Conjunctival telangiectasia, Telangiectasia of the skin, Erythema, Dry skin, Telangiectasia, Cuta... ORPHA:910
Scheie Syndrome
Hepatomegaly, Joint stiffness, Splenomegaly, Limitation of joint mobility, Rhinitis ORPHA:93474
Pachydermoperiostosis
Hepatomegaly, Osteomyelitis, Acne, Seborrheic dermatitis, Splenomegaly, Limitation of joint mobil... ORPHA:2796
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Poor wound healing, Meningocele, Facial erythema, Scaling skin, Dry skin ORPHA:1010
Pneumocystosis
Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pneumonitis, Increased circul... ORPHA:723
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Intrauterine growth retardation, Erythema OMIM:614653
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Progeroid facial appearance, Microcytic anemia, Sple... OMIM:256040
Familial Mediterranean Fever
Acute hepatic failure, Splenomegaly, Peritonitis, Erythema, Pancreatitis ORPHA:342
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Splenomegaly, Intrahepatic cholestasis, Jaundice, Hepatitis, Acholic stools, Bile d... OMIM:613812
Localized Scleroderma
Erythema ORPHA:90289
Riddle Syndrome
Conjunctival telangiectasia, Erythema, Scaling skin, Telangiectasia ORPHA:420741
Neuroendocrine Tumor Of The Rectum
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Increased serum serotonin, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss ORPHA:100082
Somatostatinoma
Diabetes mellitus, Subcutaneous lipoma, Elevated circulating growth hormone concentration, Abnorm... ORPHA:97283
Idiopathic Bronchiectasis
Cachexia ORPHA:60033
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Jaundice, Intrahepatic cholestasis, Hepatomegaly OMIM:235555
Secondary Short Bowel Syndrome
Central hypothyroidism, Failure to thrive, Primary hypothyroidism, Weight loss ORPHA:95427
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Hepatocellular carcinoma, Splenomegaly, Osteoporosis, Gout, In... OMIM:232220
Tropical Pancreatitis
Insulin-dependent but ketosis-resistant diabetes, Maternal diabetes, Weight loss ORPHA:103918
Neuropathy, Congenital Hypomyelinating, 3
Arthrogryposis multiplex congenita, Flexion contracture, Limb joint contracture, Cachexia OMIM:618186
Glycogen Storage Disease Ixc
Hepatomegaly, Splenomegaly, Bile duct proliferation, Cirrhosis, Increased hepatic glycogen content OMIM:613027
Kindler Epidermolysis Bullosa
Erythema, Cutaneous photosensitivity, Anemia ORPHA:2908
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Autoimmunity, Eczema, Mediastinal lymphadenopathy, Autoimmune antibody p... ORPHA:79128
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Joint hypermobility, Splenomegaly, Cholestasis... OMIM:300972
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia ORPHA:2774
Takayasu Arteritis
Weight loss ORPHA:3287
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Beta-Thalassemia Major
Hepatomegaly, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, ... ORPHA:231214
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Decrea... OMIM:269700
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Antinuclear antibody positivity, Discoid lupus rash, Anti-La/S... ORPHA:536
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Microvesicular hepatic steatosis, ... OMIM:618278
Kaposi Sarcoma
Weight loss ORPHA:33276
Pulmonary Non-Tuberculous Mycobacterial Infection
Weight loss ORPHA:411703
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Kawasaki Disease
Leukocytosis, Jaundice, Hepatitis, Cholecystitis, Palmoplantar erythema ORPHA:2331
Relapsing Fever
Neutrophilia, Leukocytosis, Jaundice, Anemia, Leukopenia, Thrombocytopenia ORPHA:91547
Grfoma
Subcutaneous lipoma, Elevated circulating growth hormone concentration, Neoplasm of the thymus, A... ORPHA:97261
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Elbow flexion contracture, Knee flexion contracture, Severe failure to... ORPHA:371364
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Decreased serum te... ORPHA:465508
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Weight loss ORPHA:514
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Neutrophilia, Ankle swelling, Leukocytosis, He... ORPHA:3260
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Skin rash, Perianal abscess, Iron deficiency anemia, Inflammation of the large... OMIM:301074
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, T lymphocytopenia, Colitis, Pustular rash, Osteomalacia, B... OMIM:619381
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Splenomegaly, ... ORPHA:53035
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Cachexia ORPHA:1933
Laryngotracheoesophageal Cleft Type 4
Cachexia ORPHA:93941
Chime Syndrome
Erythema, Skin ulcer, Acute leukemia ORPHA:3474
Nestor-Guillermo Progeria Syndrome
Lipoatrophy, Failure to thrive, Flexion contracture, Decreased serum leptin OMIM:614008
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Distal arthrogryposis, Cachexia ORPHA:42
Atypical Werner Syndrome
Diabetes mellitus, Lipoatrophy, Abnormal circulating leptin concentration, Insulin-resistant diab... ORPHA:79474
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytop... OMIM:612541
Classic Pantothenate Kinase-Associated Neurodegeneration
Weight loss ORPHA:216866
Holocarboxylase Synthetase Deficiency
Weight loss ORPHA:79242
Yao Syndrome
Weight loss OMIM:617321
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Hemolytic anemia, Portal hypertension, Erythema, Cholestasis... OMIM:619503
Neuroendocrine Tumor Of Stomach
Increased circulating ACTH level, Weight loss, Paraganglioma, Atypical pulmonary carcinoid tumor,... ORPHA:100075
Immunodeficiency 31C
Impaired lymphocyte transformation with phytohemagglutinin, Osteopenia, Autoimmune hemolytic anem... OMIM:614162
Ring Chromosome 10 Syndrome
Cachexia ORPHA:1438
Celiac Disease, Susceptibility To, 1
Thyroiditis, Weight loss, Delayed puberty, Type I diabetes mellitus, Enamel hypoplasia, Failure t... OMIM:212750
Apolipoprotein C-Ii Deficiency
Splenomegaly, Pancreatitis, Hepatomegaly OMIM:207750
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Primary adrenal insufficiency, Increase... ORPHA:95409
Neonatal Inflammatory Skin And Bowel Disease
Erythema, Generalized abnormality of skin, Scaling skin ORPHA:294023
Solitary Fibrous Tumor
Hypoinsulinemia, Weight loss ORPHA:2126
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Weight loss ORPHA:79127
Addison Disease
Hypoparathyroidism, Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplas... ORPHA:85138
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Precocious puberty in female... ORPHA:90794
Multiple Endocrine Neoplasia Type 4
Erythema, Insulinoma, Extrahepatic cholestasis, Abnormality of pancreas physiology, Subcutaneous ... ORPHA:276152
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Klatskin Tumor
Weight loss ORPHA:99978
Tetrasomy 12P
Cachexia ORPHA:884
Fatal Familial Insomnia
Weight loss OMIM:600072
Oromandibular Dystonia
Weight loss ORPHA:93958
Corneodermatoosseous Syndrome
Erythema ORPHA:3194
Primary Sclerosing Cholangitis
Osteopenia, Abnormal eosinophil morphology, Uveitis, Hepatic fibrosis, Neoplasm of the gallbladde... ORPHA:171
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular ... ORPHA:49041
Perry Syndrome
Weight loss OMIM:168605
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Pneumonia, Leukocytosis, Acute infectious pneumonia, Leukopenia ORPHA:36238
Glycogen Storage Disease Xii
Normocytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, Nons... OMIM:611881
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic fibrosis, Portal hypertension, Malformation of the hepatic ductal plate,... OMIM:208540
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:276621
Idiopathic Chronic Eosinophilic Pneumonia
Weight loss ORPHA:2902
Chikungunya
Skin vesicle, Erythema, Cutaneous photosensitivity, Petechiae ORPHA:324625
Parathyroid Carcinoma
Primary hyperparathyroidism, Abnormal parathyroid morphology, Weight loss, Elevated circulating p... ORPHA:143
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia ORPHA:702
Primary Hepatic Neuroendocrine Carcinoma
Neuroendocrine neoplasm, Carcinoid tumor, Increased serum serotonin, Weight loss ORPHA:100085
Reynolds Syndrome
Hepatomegaly, Antinuclear antibody positivity, Splenomegaly, Erythema nodosum, Jaundice, Anti-cen... OMIM:613471
Gm1 Gangliosidosis
Inguinal hernia, Failure to thrive, Camptodactyly of finger, Weight loss ORPHA:354
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Pancytopenia, Poor wound healing, Erythema, Skin ulcer, Skin vesicle ORPHA:99921
Relapsing Polychondritis
Erythema, Hepatitis, Purpura ORPHA:728
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Behcet Syndrome
Erythema OMIM:109650
Polymyositis
Chondrocalcinosis, Weight loss ORPHA:732
Xfe Progeroid Syndrome
Cachexia, Absence of subcutaneous fat, Corneal scarring, Enamel hypoplasia, Failure to thrive OMIM:610965
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Weight loss OMIM:256700
Scorpion Envenomation
Acute pancreatitis, Erythema, Elevated circulating aspartate aminotransferase concentration, Purpura ORPHA:466677
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Adrenal pheochromocytoma, Weight l... ORPHA:29072
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Ménétrier Disease
Weight loss ORPHA:2494
Igg4-Related Aortitis
Weight loss ORPHA:449400
Loeffler Endocarditis
Weight loss ORPHA:75566
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Diffuse Alveolar Hemorrhage
Weight loss ORPHA:90060
8P23.1 Microdeletion Syndrome
Obesity, Congenital diaphragmatic hernia, Weight loss ORPHA:251071
Hyperlipoproteinemia, Type I
Splenomegaly, Jaundice, Pancreatitis, Hepatosplenomegaly OMIM:238600
Silver-Russell Syndrome
Failure to thrive in infancy, Cachexia, Precocious puberty, Obesity, Premature adrenarche ORPHA:813
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Cachexia, Obesity, Hypogonadism ORPHA:85293
Osteopetrosis, Autosomal Recessive 7
Hepatomegaly, Splenomegaly, Recurrent pneumonia, Decreased circulating total IgM, Osteopetrosis, ... OMIM:612301
Hyperlipoproteinemia, Type Id
Hepatomegaly, Splenomegaly, Colitis, Recurrent pancreatitis, Pancreatitis OMIM:615947
Isolated Permanent Neonatal Diabetes Mellitus
Neonatal insulin-dependent diabetes mellitus, Weight loss, Lower-limb joint contracture, Arthrogr... ORPHA:99885
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Weight loss ORPHA:324964
Aggressive Systemic Mastocytosis
Weight loss ORPHA:98850
Systemic Capillary Leak Syndrome
Weight loss ORPHA:188
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Jaundice, Osteolysis, Conjunctivitis, P... OMIM:263700
Lynch Syndrome
Pituitary adenoma, Flexion contracture, Neoplasm of the thyroid gland, Weight loss ORPHA:144
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hypothyroidism, Weight loss OMIM:619487
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Upper-limb joint contracture, Cachexia ORPHA:300605
19Q13.11 Microdeletion Syndrome
Failure to thrive, Cachexia ORPHA:217346
Refractory Celiac Disease
Weight loss ORPHA:398063
Familial Colorectal Cancer Type X
Pituitary adenoma, Flexion contracture, Neoplasm of the thyroid gland, Weight loss ORPHA:440437
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic end... ORPHA:99889
Baller-Gerold Syndrome
Erythema, Spina bifida occulta, Severe intrauterine growth retardation, Anomalous splenoportal ve... OMIM:218600
Pearson Syndrome
Elevated hepatic transaminase, Reticulocytosis, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, ... ORPHA:699
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Weight loss ORPHA:370348
X-Linked Creatine Transporter Deficiency
Cachexia ORPHA:52503
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Gallbladder Neuroendocrine Tumor
Neuroendocrine neoplasm, Weight loss ORPHA:100086
Hereditary Xanthinuria
Arthropathy, Rheumatoid arthritis, Gout ORPHA:3467
Gerstmann-Straussler Disease
Weight loss OMIM:137440
Giant Cell Arteritis
Diabetes insipidus, Weight loss ORPHA:397
Osteootohepatoenteric Syndrome
Failure to thrive, Weight loss OMIM:619377
Pancreatoblastoma
Weight loss ORPHA:677
Microphthalmia With Linear Skin Defects Syndrome
Erythema ORPHA:2556
Acute Promyelocytic Leukemia
Weight loss ORPHA:520
Glossopharyngeal Neuralgia
Weight loss ORPHA:221098
Warburg-Cinotti Syndrome
Erythema, Poor wound healing OMIM:618175
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Leukocytosis, Schistocytosis, Peritonitis, Microangiopathic hemolytic anemia, Pa... ORPHA:90038
Thyrotoxic Periodic Paralysis
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Thyrotoxicosis with diffuse goi... ORPHA:79102
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Weight loss ORPHA:85450
Malt Lymphoma
Abnormality of the thyroid gland, Weight loss ORPHA:52417
Rett Syndrome
Cachexia OMIM:312750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia OMIM:175500
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Abnormality of T cell physiology, Spleno... OMIM:181000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:603041
Primary Intestinal Lymphangiectasia
Weight loss ORPHA:90362
Familial Pancreatic Carcinoma
Diabetes mellitus, Weight loss ORPHA:1333
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Cachexia, Thyroid carcinoma, Lipoma, Hashimoto thyroiditis ORPHA:109
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Crimean-Congo Hemorrhagic Fever
Stiff neck, Leukopenia, Increased circulating IgG level, Conjunctivitis, Cholecystitis, Morbillif... ORPHA:99827
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Infantile Krabbe Disease
Failure to thrive, Cachexia ORPHA:206436
Sympathetic Ophthalmia
Erythema ORPHA:79098
Ileal Neuroendocrine Tumor
Small intestine carcinoid, Increased serum serotonin, Weight loss ORPHA:100078
Eosinophilic Granulomatosis With Polyangiitis
Weight loss ORPHA:183
Beta-Ketothiolase Deficiency
Weight loss ORPHA:134
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Perianal erythema, Ectodermal dysplasia, Scaling skin, Neonatal death, Umbilical hernia, Dry skin OMIM:308205
Pyomyositis
Weight loss ORPHA:764
Whipple Disease
Hypothyroidism, Cachexia ORPHA:3452
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Severe photosensitivity, Leukopeni... ORPHA:79277
Congenital Tricuspid Stenosis
Rheumatoid arthritis, Bacterial endocarditis ORPHA:95459
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Urticaria, Erythema ORPHA:2273
Cystic Echinococcosis
Weight loss ORPHA:400
Amoebiasis Due To Entamoeba Histolytica
Weight loss ORPHA:67
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Flexion contracture of finger, Ankle flexion contracture, Flexion contracture, E... ORPHA:2020
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Cachexia, Primary adrenal insufficiency, Weight loss, Failure to thrive ORPHA:275761
Polycythemia Vera
Weight loss ORPHA:729
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Abnormal erythrocyte enzyme level, Thrombocytope... ORPHA:447
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Failure to thrive, Weight loss ORPHA:1018
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Erythema, Fragile skin OMIM:614748
Familial Thrombocytosis
Weight loss ORPHA:71493
Hutchinson-Gilford Progeria Syndrome
Female hypogonadism, Decreased serum leptin, Absence of subcutaneous fat, Weight loss, Severe fai... ORPHA:740
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of the thyroid gland, Cachexia ORPHA:1969
3-Hydroxy-3-Methylglutaric Aciduria
Weight loss ORPHA:20
Erdheim-Chester Disease
Hypogonadotropic hypogonadism, Diabetes insipidus, Weight loss ORPHA:35687
Al Amyloidosis
Weight loss ORPHA:85443
Seckel Syndrome
Abnormal dental enamel morphology, Cachexia ORPHA:808
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Knee flexion contracture, Weight loss, Umbilical hernia ORPHA:576
Hereditary Late-Onset Parkinson Disease
Weight loss ORPHA:411602
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Cachexia, Hernia ORPHA:3380
Simple Cryoglobulinemia
Weight loss ORPHA:91139
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Palmoplantar erythema OMIM:612474
Alveolar Echinococcosis
Abnormal adrenal morphology, Weight loss ORPHA:284
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Reactive Arthritis
Enthesitis, Weight loss ORPHA:29207
Hermansky-Pudlak Syndrome
Abnormal dental enamel morphology, Weight loss ORPHA:79430
Microsporidiosis
Cachexia, Abnormality of the parathyroid gland, Thyroiditis, Weight loss, Adrenocortical abnormality ORPHA:2552
Autosomal Dominant Dopa-Responsive Dystonia
Progressive flexion contractures, Rheumatoid arthritis ORPHA:98808
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss OMIM:607459
Schwartz-Jampel Syndrome
Hip contracture, Inguinal hernia, Shoulder flexion contracture, Cachexia, Wrist flexion contractu... ORPHA:800
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Castleman Disease
Weight loss ORPHA:160
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Cystinosis, Nephropathic
Diabetes mellitus, Failure to thrive in infancy, Weight loss, Primary hypothyroidism, Delayed pub... OMIM:219800
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
Nocardiosis
Cellulitis, Abnormality of the adrenal glands, Thyroiditis, Weight loss ORPHA:31204
Camurati-Engelmann Disease
Cachexia, Abnormal subcutaneous fat tissue distribution, Hypogonadism, Delayed puberty, Slender b... ORPHA:1328
Multiple Myeloma
Weight loss ORPHA:29073
Fanconi Anemia
Umbilical hernia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, Weight loss ORPHA:84
Aicardi-Goutieres Syndrome 7
Hypothyroidism, Weight loss OMIM:615846
Granulomatosis With Polyangiitis
Abnormality of the hypothalamus-pituitary axis, Diabetes insipidus, Weight loss ORPHA:900
Juvenile Polyposis Of Infancy
Subcutaneous lipoma, Cachexia ORPHA:79076
Oculopharyngodistal Myopathy 1
Weight loss OMIM:164310
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Diabetes mellitus, Cachexia, Absence of pubertal development... ORPHA:191
Igg4-Related Dacryoadenitis And Sialadenitis
Nodular goiter, Thyroiditis, Weight loss ORPHA:79078
African Trypanosomiasis
Abnormality of the endocrine system, Abnormality of renin-angiotensin system, Abnormal prolactin ... ORPHA:3385
Pulmonary Alveolar Microlithiasis
Weight loss ORPHA:60025
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Scarring, Weight loss, Abnormality of the adrenal glands, Hy... ORPHA:797
Postinfectious Vasculitis
Weight loss ORPHA:48435
Marfan Syndrome
Inguinal hernia, Slender build, Cachexia ORPHA:558
Behçet Disease
Weight loss ORPHA:117
Primary Fanconi Renotubular Syndrome
Weight loss ORPHA:3337
Igg4-Related Kidney Disease
Abnormality of the anterior pituitary, Thyroiditis, Weight loss ORPHA:449395
Nijmegen Breakage Syndrome
Cachexia ORPHA:647
Proteus Syndrome
Thymus hyperplasia, Abnormal dental enamel morphology, Cachexia, Neoplasm of the thymus, Abnormal... ORPHA:744
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cachexia, Delayed puberty ORPHA:2072
Stickler Syndrome
Slender build, Abnormal dental enamel morphology, Cachexia ORPHA:828
Tubulointerstitial Nephritis And Uveitis Syndrome
Chorioretinal scar, Weight loss ORPHA:91500
Choreoacanthocytosis
Weight loss ORPHA:2388
Norrie Disease
Diabetes mellitus, Failure to thrive, Cachexia, Delayed puberty ORPHA:649
Goodpasture Syndrome
Weight loss OMIM:233450
Tropical Endomyocardial Fibrosis
Cachexia ORPHA:75565

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 Socs3

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 Socs3.

No publications found that use IMPC mice or data for Socs3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Socs3tm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Socs3tm445205(L1L2_GT0_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Socs3tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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