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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
Diabetes mellitus, Type I 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
Gout, Splenomegaly OMIM:232900
Type 2 Diabetes Mellitus
Increased waist to hip ratio, Type II diabetes mellitus, Insulin resistance OMIM:125853
Fetal Cytomegalovirus Syndrome
Hepatomegaly, Splenomegaly, Anemia ORPHA:294
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Maturity-onset diabetes of the young, Obesity OMIM:613375
Mastocytosis, Cutaneous
Telangiectasia macularis eruptiva perstans, Cutaneous mastocytosis, Erythema, Urticaria OMIM:154800
Felty Syndrome
Splenomegaly, Rheumatoid arthritis, Neutropenia OMIM:134750
Vibratory Urticaria
Urticaria, Facial erythema, Flushing OMIM:125630
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Jessner Lymphocytic Infiltration Of The Skin
Erythema, Abnormal lymphocyte morphology, Cutaneous photosensitivity ORPHA:33314
Erythrocytosis, Familial, 8
Increased hematocrit, Polycythemia, Increased hemoglobin, Splenomegaly OMIM:222800
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Erythropoietic Protoporphyria
Erythema, Cirrhosis, Microcytic anemia, Decreased liver function, Cholelithiasis, Cutaneous photo... ORPHA:79278
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
Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young OMIM:613370
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Skin rash, Recurrent otitis media, Re... OMIM:617585
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617907
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmunity, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphop... ORPHA:444463
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:611783
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Reticulocytosis, Polycythemia, Hemolytic anemia, Increased me... ORPHA:3202
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Hypersplenism, Pancytopenia, Splenomegaly, Decreased helper T cell proportion OMIM:183350
Erythrocytosis, Familial, 6
Increased hematocrit, Increased hemoglobin, Polycythemia OMIM:617980
Erythrocytosis, Familial, 1
Plethora, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, Splenomegaly OMIM:133100
Cyanosis, Transient Neonatal
Jaundice, Reticulocytosis, Methemoglobinemia, Anemia, Hepatomegaly, Cyanosis OMIM:613977
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Erythrocytosis, Familial, 3
Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:609820
Angioma Serpiginosum
Erythema, Vascular skin abnormality ORPHA:95429
Laryngeal Neuroendocrine Tumor
Inappropriate antidiuretic hormone secretion, Elevated calcitonin, Increased serum serotonin, Adr... ORPHA:100083
Protoporphyria, Erythropoietic, 1
Cholelithiasis, Hepatic failure, Erythema, Hemolytic anemia OMIM:177000
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Orthostatic Hypotensive Disorder, Streeten Type
Facial erythema, Bruising susceptibility OMIM:143850
Hemoglobin H Disease
HbH hemoglobin, Hemolytic anemia, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly OMIM:613978
Congenital Atransferrinemia
Arthritis, Abnormality of the pancreas, Anemia ORPHA:1195
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal hemoglobin, Anemia, Thrombocytopenia, Splenomegaly ORPHA:231393
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM, Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Splenomegaly, Anemia OMIM:602079
Cutaneous Collagenous Vasculopathy
Erythema, Diffuse telangiectasia, Bruising susceptibility, Petechiae, Vascular skin abnormality, ... ORPHA:280779
Autoimmune Lymphoproliferative Syndrome
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:601859
Rosaï-Dorfman Disease
Erythema, Anemia ORPHA:158014
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Rheumatoid factor positive, Hepatomegaly, Microcytic anemia, Lymphadenopat... OMIM:618852
Hyperbilirubinemia, Shunt, Primary
Jaundice, Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Erythroid hyperplasia, ... OMIM:237800
Tuberculosis
Weight loss ORPHA:3389
Hemoglobin D Disease
Abnormal hemoglobin, Anemia, Decreased mean corpuscular volume, HbS hemoglobin, Decreased mean co... ORPHA:90039
Ras-Associated Autoimmune Leukoproliferative Disorder
Autoimmunity, Hemolytic anemia, Increased circulating antibody level, Leukemia, Autoimmune thromb... OMIM:614470
Immunodeficiency 104
Hepatomegaly, T lymphocytopenia, Recurrent otitis media, Lymphadenopathy, Pneumonia, Eczema, Otit... OMIM:608971
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Splenomegaly, Anemia ORPHA:46532
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Tempi Syndrome
Facial erythema, Increased hematocrit, Polycythemia, Telangiectasia ORPHA:284227
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia OMIM:250800
Pulmonary Blastoma
Weight loss ORPHA:64741
Immunodeficiency 50
Eczema, Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Cutaneous Photosensitivity And Colitis, Lethal
Erythema, Early cutaneous photosensitivity OMIM:219095
Anemia, Congenital Dyserythropoietic, Type Ib
Anisocytosis, Jaundice, Reticulocytosis, Anemia, Hepatomegaly, Anemia of inadequate production, P... OMIM:615631
Progressive Symmetric Erythrokeratodermia
Erythema ORPHA:316
Peeling Skin Syndrome 3
Erythema, White scaling skin OMIM:616265
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Increased circulating antibody level, Enlarged ... OMIM:615285
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:228312
Keratolytic Winter Erythema
Erythema OMIM:148370
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Nonspherocytic hemolytic anemia, Splenomegaly, Jaundice OMIM:206400
Erythema Palmare Hereditarium
Erythema OMIM:133000
Erythema Of Acral Regions
Erythema OMIM:227000
Benign Chronic Pemphigus
Erythema OMIM:169600
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema
Erythema migrans OMIM:609352
Annular Erythema
Erythema OMIM:106500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Neutropenia in presence of anti-neutropil antibodies, Autoimmune thrombocytopenia, Autoimmune hem... OMIM:619220
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Hepatosplenomegaly, Sterile abscess, Cystic acne, Knee flexion contracture, Colitis, Sterile arth... OMIM:604416
Erythema Nodosum, Familial
Erythema OMIM:132990
Specific Granule Deficiency 1
Hyposegmentation of neutrophil nuclei, Absent neutrophil specific granules, Increased neutrophil ... OMIM:245480
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema, Vasculitis in the skin ORPHA:90159
Beta-Thalassemia, Dominant Inclusion Body Type
Erythrocyte inclusion bodies, Persistence of hemoglobin F, Hepatomegaly, Microcytic anemia, Incre... OMIM:603902
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly, Skin rash OMIM:619175
Classic Mycosis Fungoides
Erythema, Dry skin, Abnormal lymphocyte morphology, Hepatomegaly, Splenomegaly, Skin ulcer ORPHA:2584
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Hepatomegaly, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myel... OMIM:133180
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Glomerulonephritis, Anti-dsDNA antibody po... OMIM:619375
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90160
Cutaneous Small Vessel Vasculitis
Urticaria, Purpura, Cutis marmorata, Erythema ORPHA:889
Non-Epidermolytic Palmoplantar Keratoderma
Erythema, Skin ulcer ORPHA:2337
Erythrokeratodermia Variabilis Et Progressiva 2
Erythema OMIM:617524
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 64 With Lymphoproliferation
Hepatosplenomegaly, Increased circulating IgA level, Cervical lymphadenopathy, Autoimmune thrombo... OMIM:618534
Immunodeficiency 48
Eczematoid dermatitis, Hepatomegaly, Splenomegaly, Panhypogammaglobulinemia, Pneumonia, Absence o... OMIM:269840
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Bruising susceptibility, Reduced platelet alpha granules, Incr... OMIM:314050
Erosive Pustular Dermatosis Of The Scalp
Erythema ORPHA:222
Immunodeficiency 69
Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Pancytopenia, Thrombocytosis, Splenomegaly OMIM:618963
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Erythema ORPHA:90157
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Neutropenia in presence of anti-neutropil antibodies, Autoimmunity, Autoimmune hemolytic anemia, ... ORPHA:231154
Immunodeficiency 16
Pancytopenia, Splenomegaly, Coombs-positive hemolytic anemia OMIM:615593
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Increased circulating antibody level, Anemia, Neutropenia, Eosinophilia... OMIM:202700
Immunodeficiency 52
Autoimmune thrombocytopenia, Increased proportion of gamma-delta T cells, Lymphopenia, Recurrent ... OMIM:617514
Dermatitis Herpetiformis
Urticaria, Erythema, Skin vesicle, Microcytic anemia ORPHA:1656
Peeling Skin Syndrome 2
Scaling skin, Erythema OMIM:609796
Abcd Syndrome
Polycythemia, Neonatal death OMIM:600501
Maculopapular Cutaneous Mastocytosis
Erythema, Dermatographic urticaria, Darier's sign, Flushing, Generalized abnormality of skin ORPHA:79457
Erythrocytosis, Familial, 2
Plethora, Increased hematocrit, Increased hemoglobin, Increased red blood cell mass OMIM:263400
Primary Erythromelalgia
Leukemia, Erythema ORPHA:90026
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Necrobiosis Lipoidica
Erythema, Abnormality of neutrophil physiology, Telangiectasia of the skin, Skin ulcer, Fragile skin ORPHA:542592
Hemophagocytic Lymphohistiocytosis, Familial, 4
Jaundice, Hemophagocytosis, Anemia, Skin rash, Hepatomegaly, Thrombocytopenia, Lymphadenopathy, C... OMIM:603552
Immunodeficiency 42
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Hepatomegaly, Chronic oral candidiasis, ... OMIM:616622
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Decreased proportion of class-switched memory B cells, Decreased circulating IgG2 level, Decrease... OMIM:615513
Dermatofibrosarcoma Protuberans
Erythema, Skin ulcer ORPHA:31112
Immunodeficiency, Common Variable, 1
Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of class-switched memo... OMIM:607594
Dehydrated Hereditary Stomatocytosis 2
Jaundice, Anisopoikilocytosis, Reticulocytosis, Increased mean corpuscular hemoglobin concentrati... OMIM:616689
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Leukocytosis, Inflammation of the large intestine, Polyarticular... OMIM:619281
Hypermanganesemia With Dystonia 1
Polycythemia, Hepatomegaly, Elevated hepatic transaminase, Cirrhosis, Decreased liver function OMIM:613280
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased proportion of HLA DR+ T cells, Rheumatoid factor positive, Hepatomegaly, Increased circ... OMIM:603909
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Reticulocytosis, Anemia, Abnormal erythrocy... ORPHA:766
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased circulating IgA level, Decreased specific antibody res... OMIM:616452
Erythrokeratodermia Variabilis Et Progressiva 4
Erythema OMIM:617526
Mu-Heavy Chain Disease
Abnormal B cell count, Osteolysis, Increased circulating antibody level, Anemia, Osteoporosis, He... ORPHA:100024
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thr... OMIM:187950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmunity, Hepatomegaly, Reduced natural killer cell activity, Anticardiolipin IgG antibody po... OMIM:615559
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Keratolytic Winter Erythema
Erythema ORPHA:50943
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Immunodeficiency 27A
Hepatosplenomegaly, Leukocytosis, Anemia, Rheumatoid factor positive, Salmonella osteomyelitis, H... OMIM:209950
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Reticulocytosis, Anemia of inadequate production, Cholelithiasis, Splenomegaly OMIM:224100
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Hypogonadism, Obesity OMIM:614962
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Jaundice, Reticulocytosis, Intrauterine growth retardatio... OMIM:266200
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Limitation of joint mobility, Lymphopenia, Arthritis, Eosinophilia ORPHA:2582
Carcinoma Of Esophagus
Weight loss, Obesity ORPHA:70482
Quinquaud Folliculitis Decalvans
Erythema ORPHA:346
Cutaneous Mastocytoma
Erythema, Dermatographic urticaria, Darier's sign, Angioedema, Scaling skin, Flushing, Telangiect... ORPHA:79455
Keratosis Pilaris Atrophicans
Erythema OMIM:604093
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Palmoplantar scaling skin, Dry skin, Erythema, Scaling skin ORPHA:530838
Immunodeficiency 84
Perianal abscess, B lymphocytopenia, Splenomegaly OMIM:619437
Tyrosinemia Type 1
Hepatocellular carcinoma, Rickets of the lower limbs, Hepatomegaly, Splenomegaly ORPHA:882
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Hepatomegaly, Abnormal circulating IgG level, Eosinophilia, Sin... OMIM:226990
Insulin Autoimmune Syndrome
Insulin-resistant diabetes mellitus, Hyperinsulinemic hypoglycemia, Weight loss ORPHA:411593
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Hepatomegaly, Splenomegaly, Eosinophilia OMIM:607685
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Colitis, Abnormal natural killer cell physiology, T... OMIM:613101
Schnitzler Syndrome
Increased bone mineral density, Leukocytosis, Anemia, Skin rash, Hepatomegaly, Arthritis, Increas... ORPHA:37748
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Reticulocytosis, Splenomegaly OMIM:179700
Immunodeficiency 76
Colitis, Lymphopenia, Recurrent pneumonia, Lymphadenopathy, B lymphocytopenia, Splenomegaly, T ly... OMIM:619164
Acral Self-Healing Collodion Baby
Palmoplantar scaling skin, Erythema, Lack of skin elasticity ORPHA:281127
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abscess, Recurrent aphthous stomatitis, Neutropenia, Chronic oral ... OMIM:150550
Multicentric Reticulohistiocytosis
Arthritis, Histiocytosis ORPHA:139436
Livedoid Vasculopathy
Leukocytosis, Polycythemia, Poor wound healing, Anemia, Ecchymosis, Pancytopenia, Macular purpura... ORPHA:542643
Spherocytosis, Type 5
Jaundice, Reticulocytosis, Hemolytic anemia, Abnormal platelet count, Abnormal leukocyte count, S... OMIM:612690
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Aplastic anemia, Hemophagocytosis, Hepatomegaly, Colitis, He... OMIM:300635
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased CD4:CD8 ratio, Decreased specific anti-polysaccharide antibody level, Mediastinal lymph... OMIM:300853
Immunodeficiency 7
Hypereosinophilia, Autoimmunity, Autoimmune hemolytic anemia, Hepatomegaly, Chronic oral candidia... OMIM:615387
Immunodeficiency, Common Variable, 2
Autoimmunity, Decreased circulating IgA level, Hepatomegaly, Impaired T cell function, Follicular... OMIM:240500
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Skin rash, Recurrent aphthous stomatitis, Arthritis, Lymphadenopathy, Splenomegaly,... OMIM:611762
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Recurrent aphthous stomatitis, Bone marrow hypocellularity, Autoimmune hemolyti... OMIM:301078
Ichthyosis, Congenital, Autosomal Recessive 14
Scaling skin, Erythema OMIM:617571
Idiopathic Achalasia
Weight loss ORPHA:930
Systemic Lupus Erythematosus
Malar rash, Leukopenia, Hemolytic anemia, Nephritis, Lupus nephritis, Arthritis, Thrombocytopenia... OMIM:152700
Acral Peeling Skin Syndrome
Excessive wrinkling of palmar skin, Scaling skin, Erythema ORPHA:263534
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Bone ... ORPHA:75564
Granulomatous Slack Skin
Erythema, Redundant skin, Cutis laxa ORPHA:33111
Acquired Ichthyosis
Dry skin, Erythema ORPHA:454
Overhydrated Hereditary Stomatocytosis
Anisocytosis, Reticulocytosis, Intermittent jaundice, Hemolytic anemia, Abnormal mean corpuscular... ORPHA:3203
Ulerythema Ophryogenesis
Dry skin, Facial erythema ORPHA:3406
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Ataxia-Pancytopenia Syndrome
Abnormal macrophage morphology, Abnormal platelet function, Abnormality of neutrophils, Hypoplast... ORPHA:2585
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating total IgM, Chronic sinusitis, Abnormal T cell morphology, Decreased circula... OMIM:613502
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Glutamate-Cysteine Ligase Deficiency
Hepatosplenomegaly, Jaundice, Reticulocytosis, Hemolytic anemia ORPHA:33574
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Scaling skin, Erythema ORPHA:90158
Maturity-Onset Diabetes Of The Young, Type 13
Maternal diabetes, Diabetes mellitus, Hyperglycemia, Abnormality of body mass index, Maturity-ons... OMIM:616329
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Farber Lipogranulomatosis
Ulnar deviation of the wrist, Osteolysis involving bones of the feet, Joint swelling, Hyperextens... OMIM:228000
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Agammaglobulinemia, Erythema nodosum... OMIM:615214
Sea-Blue Histiocyte Disease
Cirrhosis, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Chondrocalcinosis 2
Arthropathy, Osteoarthritis, Polyarticular chondrocalcinosis OMIM:118600
Gamma-Heavy Chain Disease
Osteolysis, Autoimmunity, Anemia, Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic an... ORPHA:100026
Sjögren-Larsson Syndrome
Urticaria, Dry skin, Erythema ORPHA:816
Systemic-Onset Juvenile Idiopathic Arthritis
Autoimmunity, Joint swelling, Skin rash, Juvenile rheumatoid arthritis, Hepatomegaly, Lymphadenop... ORPHA:85414
Palmoplantar Keratoderma And Congenital Alopecia 2
Dry skin, Facial erythema OMIM:212360
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmunity, Decreased CD4:CD8 ratio, Autoimmune hemolytic anemia, Hepatomegaly, Lymphocytic int... OMIM:618495
Felty Syndrome
Chronic otitis media, Abnormal joint morphology, Osteolysis, Autoimmunity, Anemia, Bone marrow hy... ORPHA:47612
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hyperthyroidism, Decreased thyroid-stimulating hormone level, Increased circulating T4 co... OMIM:613239
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Hepatomegaly, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Sydenham Chorea
Erythema ORPHA:306731
Mal De Meleda
Perioral erythema OMIM:248300
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Decreased circulating IgA level, Decreased circulating Ig... OMIM:606843
Indolent Systemic Mastocytosis
Maculopapular exanthema, Skin rash, Osteoporosis, Abnormal mast cell morphology, Hepatomegaly, Ly... ORPHA:98848
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Jaundice, Reticulocytosis, Normocytic anemia, Normochromic anemia, Cholecystitis, Nonspherocytic ... OMIM:235700
Obesity Due To Congenital Leptin Deficiency
Hypoplasia of the ovary, Obesity, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased ser... ORPHA:66628
Body Mass Index Quantitative Trait Locus 19
Increased serum leptin, Hyperinsulinemia, Obesity OMIM:617885
Mal De Meleda
Erythema ORPHA:87503
Cidec-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Decreased serum leptin, Loss of facia... ORPHA:435651
Atrophoderma Vermiculata
Erythema ORPHA:79100
Erythrokeratodermia Variabilis
Dry skin, Erythema, Cutaneous photosensitivity ORPHA:317
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Autoimmunity, Anemia, Skin rash, Abnormality of neutrophil... ORPHA:229717
Proteasome-Associated Autoinflammatory Syndrome 4
Erythema, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly OMIM:619183
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Autoimmune thrombocytopenia, Eczema, Autoimmune hemolytic anemia... OMIM:616100
Bullous Impetigo
Erythema ORPHA:36237
Familial Cold Autoinflammatory Syndrome 3
Cold urticaria, Erythema, Dermatographic urticaria, Angioedema OMIM:614468
Adult Idiopathic Neutropenia
Recurrent aphthous stomatitis, Antineutrophil antibody positivity, Lymphopenia, Increased circula... ORPHA:2688
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Bone marrow hypocellularity, Neutropenia, Increased mean corpuscular volume, Thrombocytop... OMIM:619041
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Epidermodysplasia Verruciformis, Susceptibility To, 4
Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Neutrophilic Dermatosis, Acute Febrile
Pyoderma gangrenosum, Erythema, Anemia OMIM:608068
Lipodystrophy, Familial Partial, Type 5
Diabetic ketoacidosis, Lipodystrophy, Decreased serum leptin, Decreased adiponectin level OMIM:615238
Dermatitis, Atopic
Dry skin, Facial erythema, Pallor OMIM:603165
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Granuloma, Colitis, Hepatosplenomegaly, Lymphopenia, Thrombocytopenia, Elevated... OMIM:619802
Isaacs Syndrome
Weight loss ORPHA:84142
Obesity Due To Leptin Receptor Gene Deficiency
Hypoplasia of the ovary, Obesity, Hyperinsulinemia, Hypergonadotropic hypogonadism, Decreased ser... ORPHA:179494
Chronic Hiccup
Weight loss ORPHA:396
Caspase 8 Deficiency
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:607271
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, Asplenia, Persistence of hemoglobin F, HbS hemoglobin, Hypochromic microcytic an... ORPHA:251380
Akt2-Related Familial Partial Lipodystrophy
Lipodystrophy, Decreased serum leptin, Increased intraabdominal fat, Decreased adiponectin level,... ORPHA:79085
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Leukopenia, Anemia, Lymphopenia, Telangiectasia, Livedo reticularis, Thrombocytosis, Cu... OMIM:615934
Immunodeficiency 60 And Autoimmunity
Decreased proportion of memory B cells, Decreased circulating total IgM, Perinuclear antineutroph... OMIM:618394
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Arthritis, Purulent rhinitis, Panhypogammaglobulinemia, B lymphocytopenia, Pneumonia, Conjunctivi... OMIM:601457
Lipe-Related Familial Partial Lipodystrophy
Lipodystrophy, Loss of gluteal subcutaneous adipose tissue, Increased adipose tissue around the n... ORPHA:435660
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Exocrine pancreatic insufficiency, Erythema, Anemia, Hepatomegal... OMIM:557000
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Exercise-induced hemolysis, Jaundice, Reticulocytosis, Increased mean corpuscular hemoglobin conc... OMIM:194380
Acquired Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:95626
Sickle Cell Anemia
Reticulocytosis, Leukocytosis, Hemolytic anemia, Pigment gallstones, Hypochromic anemia, Cholesta... ORPHA:232
Neutropenia, Severe Congenital, X-Linked
Eczema, Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Alpha-Thalassemia
Jaundice, Hemolytic anemia, Abnormal hemoglobin, Anemia, Microcytic anemia, Hypersplenism, Cholel... ORPHA:846
Diencephalic Syndrome
Decreased body weight, Cachexia, Abnormality of the hypothalamus-pituitary axis ORPHA:1672
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Urticaria, Erythema, Angioedema ORPHA:100057
Pfapa Syndrome
Hepatomegaly, Arthritis, Infectious encephalitis, Lymphadenopathy, Splenomegaly ORPHA:42642
Agammaglobulinemia 3, Autosomal Recessive
Absent isohemagglutinin level, Abnormal T cell morphology, Absent circulating B cells, Recurrent ... OMIM:613501
Neonatal Severe Primary Hyperparathyroidism
Hepatomegaly, Splenomegaly, Recurrent fractures ORPHA:417
Adult-Onset Still Disease
Erythema, Leukocytosis, Hepatomegaly, Elevated hepatic transaminase, Hepatitis, Neutrophilia, Spl... ORPHA:829
Hemoglobin E Disease
Increased red blood cell count, Abnormal hemoglobin, Decreased mean corpuscular volume, Hypochrom... ORPHA:2133
Lig4 Syndrome
Erythema, Leukocytosis, Acute leukemia, Hepatomegaly, Pancytopenia, Telangiectasia of the skin, C... ORPHA:99812
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Erythema, Eosinophilia OMIM:147060
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Recurrent s... OMIM:612840
Huntington Disease-Like 2
Weight loss ORPHA:98934
Mulibrey Nanism
Cachexia ORPHA:2576
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Cinca Syndrome
Hepatosplenomegaly, Leukocytosis, Anemia, Skin rash, Uveitis, Arthritis, Eosinophilia, Patellar o... OMIM:607115
Snakebite Envenomation
Erythema, Thrombocytopenia, Ecchymosis, Angioedema ORPHA:449285
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Intestinal Dysmotility Syndrome
Weight loss, Failure to thrive OMIM:620045
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Decreased circulating total IgM, Reduced bone mineral density, Leukopenia, Joint stiffness, Hepat... OMIM:620210
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Autoimmunity, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Eczema, Lymphopenia, ... OMIM:617780
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Graves Disease, Susceptibility To, 1
Graves disease, Goiter, Increased circulating free T3, Decreased thyroid-stimulating hormone leve... OMIM:275000
Immunodeficiency 46
Intermittent thrombocytopenia, Anemia, Chronic oral candidiasis, Decreased circulating antibody l... OMIM:616740
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Anemia of inadequate p... OMIM:224120
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Hepatomegaly, Splenomegaly, Fetal ascites OMIM:619462
Psoriasis 14, Pustular
Neutrophilia, Erythema, Leukocytosis, Cholangitis OMIM:614204
Spherocytosis, Type 2
Jaundice, Reticulocytosis, Hemolytic anemia, Acanthocytosis, Spherocytosis, Splenomegaly OMIM:616649
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Spherocytosis, Type 1
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Cholelithiasis, Splenomegaly OMIM:182900
Moynahan Syndrome
Cachexia, Hypogonadism ORPHA:2574
Aicardi-Goutieres Syndrome 1
Erythema, Hepatomegaly, Prolonged neonatal jaundice, Elevated hepatic transaminase, Purpura, Thro... OMIM:225750
Hereditary Central Diabetes Insipidus
Diabetes insipidus, Weight loss ORPHA:30925
Hepatocellular Carcinoma
Abnormality of the hepatic vasculature, Hemobilia, Jaundice, Polycythemia, Liver abscess, Anemia,... ORPHA:88673
Gcgr-Related Hyperglucagonemia
Neoplasm of the pancreas, Abnormal biliary tract morphology, Cholelithiasis, Necrolytic migratory... ORPHA:438274
Spherocytosis, Type 4
Jaundice, Reticulocytosis, Hemolytic anemia, Spherocytosis, Splenomegaly OMIM:612653
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Hepatomegaly, Reduced natural killer cell activity, Fulminant ... OMIM:308240
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hepatomegaly, Osteopenia, Hypersplenism, Thrombocytopenia, Splenomegaly OMIM:610539
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Jaundice, Heinz bodies, Leukocytosis, Reticuloc... OMIM:300908
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Knee osteoarthritis, Oligoarthritis, Joint swelling, Joint stiffness, Anemia,... ORPHA:85408
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hepatosplenomegaly, Recurrent tonsillitis, Hemolytic anemia, Impaired oxidative burst, Abscess, R... OMIM:618935
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Lymphoproliferative Syndrome 2
Hepatosplenomegaly, Aplastic anemia, Hemophagocytosis, Uveitis, Hepatomegaly, Recurrent pneumonia... OMIM:615122
Niemann-Pick Disease, Type B
Anemia, Bone-marrow foam cells, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:607616
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Anemia, Hepatomegaly, Thrombocytopenia, Petechiae, Splenomegaly OMIM:611490
Macrophage Activation Syndrome
Autoimmunity, Hemophagocytosis, Anemia, Juvenile rheumatoid arthritis, Hepatomegaly, Hepatitis, A... ORPHA:158061
Lymphoproliferative Syndrome 1
Autoimmunity, Leukopenia, Stomatitis, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly, Cutan... OMIM:618892
Alpha-Heavy Chain Disease
Anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy, Dysgammaglobulinemia, Ascites ORPHA:100025
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Generalized morning stiffness, Arthropathy, Arthritis, Congenital finger flexion contractures, Wr... OMIM:208250
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Erythema, Hepatomegaly, Purpura, Urticaria, Acrocyanosis ORPHA:343
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Lipodystrophy, Lipoatrophy, Cachexia, Reduced subcutaneous adipose tissue, Flexion contracture, T... ORPHA:1979
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Thrombocytopenia, Splenomegaly OMIM:615010
Agammaglobulinemia 8B, Autosomal Recessive
Decreased circulating total IgM, Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, ... OMIM:619824
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Scaling skin, Erythema, Lack of facial subcutaneous fat ORPHA:90156
Familial Cold Urticaria
Urticaria, Erythema ORPHA:47045
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Hyperaldosteronism, Elevated serum 11-deoxyc... ORPHA:1501
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Jaundice, Anemia, Decreased mean corpuscular volume, Hypochromi... OMIM:616860
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Reduced erythrocyte adenosine triphosphate concentration, Stom... OMIM:301083
Deafness-Lymphedema-Leukemia Syndrome
Chronic otitis media, Myeloproliferative disorder, Leukocytosis, Bone marrow hypocellularity, Hep... ORPHA:3226
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Autoimmunity, Hemophagocytosis, Anemia, Pancytopenia, Splenomegaly, Panniculitis OMIM:618398
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Polycythemia, Abnormality of the liver, Hepatomegaly, Elevated hepatic transaminase, Po... ORPHA:309854
Cryohydrocytosis
Stomatocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:185020
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal hypertension, Hepatomegaly, Splenomegaly, Portal vein thrombosis OMIM:610293
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Telangiectasia, Erythema, Cutaneous photosensitivity, Fragile skin ORPHA:158673
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Hemolytic anemia, Anemia, Reduced hematocrit, ... OMIM:613673
Hypercalcemia, Infantile, 1
Decreased circulating parathyroid hormone level, Weight loss, Failure to thrive OMIM:143880
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Hepatosplenomegaly, Generalized lymphadenopathy, Leukopenia, Partial absence of specific antibody... OMIM:618986
Glutamine Deficiency, Congenital
Erythema, Neonatal death OMIM:610015
Overhydrated Hereditary Stomatocytosis
Jaundice, Reticulocytosis, Hemolytic anemia, Hepatomegaly, Prolonged neonatal jaundice, Increased... OMIM:185000
Bullous Pemphigoid
Urticaria, Erythema ORPHA:703
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Hepatomegaly, Splenomegaly, Hepatic steatosis OMIM:614480
Portal Hypertension, Noncirrhotic, 1
Portal hypertension, Hepatomegaly, Splenomegaly OMIM:617068
Immunodeficiency 21
Myeloid leukemia, Aplastic anemia, Anemia, Reduced natural killer cell count, Lymphopenia, B lymp... OMIM:614172
Congenital Bile Acid Synthesis Defect Type 1
Biliary tract abnormality, Jaundice, Neonatal cholestatic liver disease, Osteoporosis, Hepatomega... ORPHA:79301
Mednik Syndrome
Erythema, Cholestasis, Hepatic fibrosis, Cirrhosis, Neonatal death OMIM:609313
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Erythema, Angioedema, Elevated hepatic transaminase, Eosinophilia, Hepatit... ORPHA:139402
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Anemia, Autoimmune thrombocytopenia, Increased circulating IgE level, Neutrop... OMIM:304790
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Pigment gallstones, Spontaneous hemolytic crises, Impaired neutrophil bactericidal acti... OMIM:613470
Juvenile Idiopathic Arthritis
Abnormal joint morphology, Autoimmunity, Joint swelling, Joint stiffness, Skin rash, Uveitis, Hep... ORPHA:92
Hypotrichosis 6
Erythema OMIM:607903
Splenoportal Vascular Anomalies
Hepatic fibrosis, Cirrhosis, Anomalous splenoportal venous system, Splenomegaly, Ascites OMIM:271500
Autoinflammatory Disease, Systemic, X-Linked
Hepatosplenomegaly, Decreased circulating total IgM, Optic neuritis, Complete or near-complete ab... OMIM:301081
Ghosal Hematodiaphyseal Dysplasia
Splenomegaly, Anemia ORPHA:1802
Bone Marrow Failure Syndrome 6
Anemia, Bone marrow hypocellularity, Persistence of hemoglobin F, Lymphopenia, Osteopenia, Increa... OMIM:618849
Immunodeficiency 36 With Lymphoproliferation
Decreased proportion of naive CD8 T cells, Autoimmunity, Chronic lymphatic leukemia, Decreased ci... OMIM:616005
Non Rare In Europe: Oral Erosive Lichen
Dry skin, Erythema ORPHA:31142
Immunodeficiency 68
Abscess, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, Recurrent skin infe... OMIM:612260
Progressive Familial Intrahepatic Cholestasis
Reduced bone mineral density, Jaundice, Cholestasis, Hepatomegaly, Splenomegaly ORPHA:172
Polyarteritis Nodosa
Cutis marmorata, Erythema, Skin ulcer ORPHA:767
Sea-Blue Histiocytosis
Blepharitis, Hepatomegaly, Sea-blue histiocytosis, Thrombocytopenia, Mediastinal lymphadenopathy,... ORPHA:158029
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Weight loss, Failure to thrive OMIM:612075
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Generalized lymphadenopathy, Absent tonsils, Increased circulating IgE level, Hepatomegaly, Lymph... OMIM:602450
Nodular Non-Suppurative Panniculitis
Erythema, Hepatomegaly, Splenomegaly ORPHA:33577
Thymic Neuroendocrine Tumor
Pituitary prolactin cell adenoma, Increased circulating ACTH level, Increased circulating prolact... ORPHA:97289
Hereditary Elliptocytosis
Jaundice, Elliptocytosis, Reticulocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Cho... ORPHA:288
Autoimmune Hepatitis
Anti-liver cytosolic antigen type 1 antibody positivity, Fulminant hepatitis, Antinuclear antibod... ORPHA:2137
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint swelling, Osteoarthritis, Arthritis, Joint dislocation, Limitation of jo... ORPHA:1416
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Ichthyosis, Annular Epidermolytic, 2
Scaling skin, Erythema OMIM:620148
Medullary Thyroid Carcinoma
Elevated calcitonin, Nodular goiter, Pheochromocytoma, Medullary thyroid carcinoma, Primary hyper... ORPHA:1332
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased specific antibody response to vaccination, Colitis, B lymphocytopenia, Erythema nodosum... OMIM:614700
Osteopetrosis, Autosomal Dominant 3
Anemia, Hepatomegaly, Osteopenia, Recurrent fractures, Splenomegaly OMIM:618107
Telangiectasia, Hereditary Hemorrhagic, Type 2
Lip telangiectasia, Hepatic arteriovenous malformation, Polycythemia, Anemia, Fingerpad telangiec... OMIM:600376
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Thrombocytopenia, Osteopetrosis, Splenomegaly OMIM:615085
Hepatoportal Sclerosis
Hepatocellular carcinoma, Abnormality of the hepatic vasculature, Jaundice, Leukopenia, Abnormal ... ORPHA:64743
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased proportion of class-switched memory B cells, Erythema OMIM:614878
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Anemia, Skin rash, Myositis, Hepatomegaly, Lymphopenia, Art... OMIM:617591
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Fumarase Deficiency
Polycythemia, Intrahepatic cholestasis, Reduced subcutaneous adipose tissue, Hepatic failure, Pallor OMIM:606812
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Dry skin, Erythema, Scaling skin OMIM:614457
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Increased circulating antibody level, Anemia, Hepatom... ORPHA:507
Hemochromatosis, Type 3
Anemia, Lymphopenia, Arthritis, Cirrhosis, Neutropenia OMIM:604250
Cold Agglutinin Disease
Autoimmunity, Hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:56425
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Pruritic Urticarial Papules And Plaques Of Pregnancy
Palmoplantar erythema, Facial erythema, Skin vesicle, Striae distensae ORPHA:64745
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Prolidase Deficiency
Erythema, Dry skin, Hepatomegaly, Splenomegaly, Cutaneous photosensitivity, Skin ulcer ORPHA:742
Cholestasis-Lymphedema Syndrome
Jaundice, Neonatal cholestatic liver disease, Erysipelas, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:214900
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly ORPHA:721
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Chronic otitis media, Autoimmunity, Anemia, Skin rash, Art... ORPHA:47
Hereditary Spherocytosis
Jaundice, Reticulocytosis, Extramedullary hematopoiesis, Increased mean corpuscular hemoglobin co... ORPHA:822
Hemochromatosis, Type 2A
Arthritis, Hepatomegaly, Splenomegaly, Cirrhosis OMIM:602390
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Chronic hepatitis, Hepatomegaly, Chronic oral candidiasis, Increased circulatin... OMIM:308230
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Reduction of neutrophil motility, Impaired oxidative burst, Macrocytic anemia, Impa... OMIM:608203
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Autoimmunity, Skin rash, Decreased proportion of CD3-positive T cells, Hashimoto thyroiditis, Rec... ORPHA:275
Autoinflammation With Arthritis And Dyskeratosis
Increased circulating IgA level, Hypereosinophilia, Polyarticular arthritis, Uveitis, Autoimmune ... OMIM:617388
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perioral erythema, Dry skin, Hepatomegaly, Perianal erythema, Splenomegaly OMIM:201100
Amyloidosis, Familial Visceral
Cholestasis, Hepatomegaly, Splenomegaly, Skin rash OMIM:105200
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Skin rash, Hepatomegaly, Anemia of inadequate production, Osteopenia, Allergic rhinitis... OMIM:612714
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Increased circulating IgA level, Increased circulating antibody level, Decrea... ORPHA:169154
Hemochromatosis, Type 2B
Anemia, Hepatic fibrosis, Hepatomegaly, Cirrhosis, Splenomegaly OMIM:613313
Central Diabetes Insipidus
Diabetes insipidus, Weight loss, Failure to thrive ORPHA:178029
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Recurrent otitis media, Periodontitis, Pneumonia, Neutrophilia OMIM:266265
Xeroderma Pigmentosum, Complementation Group F
Erythema, Cutaneous photosensitivity OMIM:278760
Focal Myositis
Weight loss ORPHA:48918
Poems Syndrome
Polycythemia, Acrocyanosis, Thrombocytosis ORPHA:2905
Papa Syndrome
Increased inflammatory response, Increased circulating antibody level, Pustule, Arthritis, Acne, ... ORPHA:69126
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Hepatomegaly, Splenomegaly ORPHA:2204
Vulvovaginal Gingival Syndrome
Erythema ORPHA:83453
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hyperthyroidism, Weight loss OMIM:188580
Reticular Dysgenesis
Aplasia/Hypoplasia of the thymus, Weight loss, Failure to thrive ORPHA:33355
Immunodeficiency 23
Erythema, Hemolytic anemia, Lymphopenia, Eosinophilia, Vasculitis in the skin, Neutropenia OMIM:615816
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hepatomegaly, Portal hype... ORPHA:824
Mycosis Fungoides
Erythema OMIM:254400
Majeed Syndrome
Abnormal inflammatory response, Increased bone mineral density, Leukocytosis, Inflammatory abnorm... ORPHA:77297
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Jaundice, Reticulocytosis, Hemolytic anemia, Hypochromia, Intra... ORPHA:71275
Glut1 Deficiency Syndrome 2
Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612126
Autoimmune Lymphoproliferative Syndrome
Autoimmunity, Decreased specific anti-polysaccharide antibody level, Rheumatoid factor positive, ... ORPHA:3261
Omenn Syndrome
Leukocytosis, Autoimmunity, Anemia, Abnormal lymphocyte morphology, Hepatomegaly, Erythroderma, E... ORPHA:39041
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hepatosplenomegaly, Reticulocytosis, Hemolytic anemia, Decreased mean corpuscular volume, Pallor OMIM:611590
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Anemia, Hepatomegaly, Pericarditis, Splenomegaly ORPHA:163596
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Omenn Syndrome
Hypoplasia of the thymus, Anemia, Severe B lymphocytopenia, Hepatomegaly, Erythroderma, Eosinophi... OMIM:603554
Fountain Syndrome
Cutis marmorata, Erythema, Spina bifida occulta, Spina bifida ORPHA:3219
Selective Igm Deficiency
Chronic sinusitis, Autoimmunity, Decreased specific antibody response to vaccination, Decreased p... ORPHA:331235
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Hepatic hemangioma, Polycythemia, Pancreatic cysts OMIM:193300
Beta-Thalassemia
Reduced bone mineral density, Abnormal hemoglobin, Anemia, Hepatomegaly, Microcytic anemia, Hepat... ORPHA:848
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Osteolysis, Joint swelling, Stomatitis, Skin rash, Abscess, Hepatomegaly, Fused cervical vertebra... OMIM:612852
Fixed Drug Eruption
Erythema, Generalized abnormality of skin ORPHA:293812
Cinca Syndrome
Abnormal joint morphology, Reduced bone mineral density, Leukocytosis, Anemia, Abnormal granulocy... ORPHA:1451
Inflammatory Skin And Bowel Disease, Neonatal, 1
Perianal erythema, Perioral erythema OMIM:614328
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Erythema migrans, Skin fragility with non-scarring blistering, Skin vesicle ORPHA:158681
Griscelli Syndrome Type 2
Jaundice, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Ichthyosis, Annular Epidermolytic, 1
Scaling skin, Erythema OMIM:607602
Mody
Neonatal hypoglycemia, Overweight, Glycosuria, Abnormal oral glucose tolerance, Hyperglycemia, Tr... ORPHA:552
Neonatal Lupus Erythematosus
Malar rash, Maculopapular exanthema, Aplastic anemia, Hemolytic anemia, Anemia, Cholestasis, Abno... ORPHA:398124
Familial Benign Chronic Pemphigus
Erythema, Skin vesicle ORPHA:2841
Autoimmune Polyendocrinopathy Type 4
Thymoma, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubul... ORPHA:227990
X-Linked Sideroblastic Anemia
Splenomegaly, Anemia ORPHA:75563
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Bone marrow hypocellularity, Macr... OMIM:300835
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Autoimmunity, Uveitis, Joint hypermobility, Rheumatoid arthr... ORPHA:85410
Alpha-1-Antitrypsin Deficiency
Hepatocellular carcinoma, Bronchiectasis, Splenomegaly, Cirrhosis OMIM:613490
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Pancreatitis, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Interstitial Granulomatous Dermatitis With Arthritis
Erythema ORPHA:79099
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Hepatic fibrosis, Hepatomegaly, Portal fibrosis, Portal hypertension, Iron deficiency a... OMIM:616278
Idiopathic Aplastic Anemia
Anemia, Bone marrow hypocellularity, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Autoimmun... ORPHA:88
Ichthyosis, Congenital, Autosomal Recessive 8
Erythema OMIM:613943
Microscopic Polyangiitis
Peritonitis, Erythema, Pancreatitis, Skin ulcer, Cutis marmorata, Subcutaneous hemorrhage ORPHA:727
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Hodgkin Lymphoma
Weight loss ORPHA:98293
Huntington Disease-Like 2
Weight loss OMIM:606438
Toxic Epidermal Necrolysis
Acute hepatic failure, Erythema, Anemia, Pancreatitis, Elevated hepatic transaminase, Thrombocyto... ORPHA:537
Elliptocytosis 1
Jaundice, Elliptocytosis, Splenomegaly, Hemolytic anemia OMIM:611804
Follicular Lymphoma
Mediastinal lymphadenopathy, Abnormality of the peritoneum, Lymphadenopathy, Splenomegaly ORPHA:545
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Hepatic bridging fibrosis, Hepatic fibrosis, Splenomegaly OMIM:619658
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Eosinophilic Fasciitis
Fasciitis, Cellulitis, Weight loss ORPHA:3165
Autoimmune Polyendocrinopathy Type 3
Thymoma, Autoimmunity, Leukopenia, Aplasia/Hypoplasia of the spleen, Hashimoto thyroiditis, Tubul... ORPHA:227982
Anemia, Hypochromic Microcytic, With Iron Overload 2
Anemia, Decreased mean corpuscular volume, Hypochromia, Hepatomegaly, Elevated hepatic iron conce... OMIM:615234
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Decreased circulating antibody level, Leukocytosis, Splenomegaly OMIM:618042
Hurler-Scheie Syndrome
Hepatomegaly, Abnormality of the tonsils, Limitation of joint mobility, Rhinitis, Splenomegaly ORPHA:93476
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Autoimmunity, Splenomegaly, Hemolytic anemia ORPHA:98375
Cholestasis-Lymphedema Syndrome
Biliary tract abnormality, Jaundice, Reduced bone mineral density, Neonatal cholestatic liver dis... ORPHA:1414
Pyoderma Gangrenosum
Inflammation of the large intestine, Myeloid leukemia, Increased circulating antibody level, Myos... ORPHA:48104
Gaucher Disease Type 1
Increased bone mineral density, Osteolysis, Leukopenia, Increased circulating antibody level, Ane... ORPHA:77259
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia ORPHA:157973
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, Fi... OMIM:619849
Vipoma
Erythema, Intermittent jaundice, Neoplasm of the liver, Intrahepatic cholestasis, Neoplasm of the... ORPHA:97282
Autoinflammation With Infantile Enterocolitis
Anemia, Skin rash, Reduced natural killer cell count, Reduced natural killer cell activity, Throm... OMIM:616050
Zollinger-Ellison Syndrome
Pituitary prolactin cell adenoma, Elevated circulating growth hormone concentration, Adrenocortic... ORPHA:913
Stevens-Johnson Syndrome
Acute hepatic failure, Erythema, Anemia, Abnormality of neutrophils, Pancreatitis, Elevated hepat... ORPHA:36426
Hennekam-Beemer Syndrome
Erythema, Urticaria, Skin vesicle, Telangiectasia of the skin, Mastocytosis ORPHA:2135
Beta-Thalassemia Intermedia
Hepatosplenomegaly, Hepatocellular carcinoma, Jaundice, Reduced bone mineral density, Leukocytosi... ORPHA:231222
Ogden Syndrome
Jaundice, Redundant neck skin, Polycythemia, Redundant skin, Umbilical hernia, Intrauterine growt... OMIM:300855
Classic Hodgkin Lymphoma
Osteolysis, Skin rash, Bone marrow hypocellularity, Hepatomegaly, Lymphadenopathy, Splenomegaly ORPHA:391
Erythrokeratodermia Variabilis Et Progressiva 3
Erythema OMIM:617525
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hepatocellular carcinoma, Hemophagocytosis, Anemia, Acute lymphoblastic leuke... ORPHA:158057
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Maculopapular exanthema, Hemophagocytosis, Hepatomegaly, Recurrent pneumonia,... OMIM:619644
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxidative burst, Recurrent bacteri... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxidative burst, Recurrent bacteri... OMIM:233710
Griscelli Syndrome
Jaundice, Leukopenia, Abnormality of neutrophils, Bone marrow hypocellularity, Hepatomegaly, Hepa... ORPHA:381
Muckle-Wells Syndrome
Camptodactyly of finger, Anemia, Recurrent aphthous stomatitis, Skin rash, Uveitis, Hepatomegaly,... ORPHA:575
Pituitary Adenoma 4, Acth-Secreting
Facial erythema, Bruising susceptibility, Poor wound healing, Ecchymosis, Striae distensae, Purpura OMIM:219090
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloproliferative disorder, Leukocytosis, Myeloid leukemia, Normocytic anemia, Chronic myelomono... ORPHA:98849
Secondary Non-Traumatic Avascular Necrosis
Autoimmunity, Systemic lupus erythematosus, Limitation of joint mobility, Rheumatoid arthritis ORPHA:399180
Telangiectasia, Hereditary Hemorrhagic, Type 1
Lip telangiectasia, Hepatic arteriovenous malformation, Polycythemia, Anemia, Fingerpad telangiec... OMIM:187300
Hyper-Igd Syndrome
Hepatosplenomegaly, Increased circulating IgA level, Leukocytosis, Skin rash, Lymphadenitis, Chro... OMIM:260920
Insulin-Resistance Syndrome Type B
Increased serum testosterone level, Abnormal circulating leptin concentration, Fasting hyperinsul... ORPHA:2298
Autoimmune Hemolytic Anemia, Warm Type
Jaundice, Autoimmunity, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Systemic lupus e... ORPHA:90033
Complex Regional Pain Syndrome
Dry skin, Erythema ORPHA:83452
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgA level, Leukocytosis, Joint swelling, Skin rash, Increased circulating I... OMIM:617099
Elliptocytosis 2
Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Familial Tumoral Calcinosis
Erythema, Hepatomegaly, Splenomegaly ORPHA:53715
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Sjogren Syndrome
Keratoconjunctivitis sicca, Autoimmunity, Tubulointerstitial nephritis, Rheumatoid arthritis OMIM:270150
Wilson Disease
Acute hepatitis, Jaundice, Joint swelling, Pathologic fracture, Anemia, Hepatomegaly, Cirrhosis, ... ORPHA:905
Familial Pseudohyperkalemia
Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Increased mean corpuscular volume ORPHA:90044
Glycogen Storage Disease Vii
Jaundice, Reticulocytosis, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate concentra... OMIM:232800
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Panniculitis, Weight loss ORPHA:86884
X-Linked Lymphoproliferative Disease
Myocarditis, Autoimmunity, Hemophagocytosis, Fulminant hepatitis, Colitis, Histiocytosis, Increas... ORPHA:2442
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Erythema OMIM:615821
Q Fever
Myocarditis, Maculopapular exanthema, Rheumatoid factor positive, Granuloma, Hepatomegaly, Antica... ORPHA:781
Letterer-Siwe Disease
Hepatosplenomegaly, Jaundice, Stomatitis, Anemia, Seborrheic dermatitis, Thrombocytopenia, Neutro... OMIM:246400
Mixed Connective Tissue Disease
Myocarditis, Osteolysis, Autoimmunity, Leukopenia, Hemolytic anemia, Joint swelling, Joint stiffn... ORPHA:809
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal lymph node morphology, Abnormality of the pancreas, Neutrophilia,... ORPHA:54251
Myasthenia Gravis
Hemolytic anemia, Hashimoto thyroiditis, Pure red cell aplasia, Anti-acetylcholine receptor antib... ORPHA:589
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Eczematoid dermatitis, Liver abscess, Granulomatosis, Impaired oxidative burst, Recurrent bacteri... OMIM:233690
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Lipoatrophy, Diabetes mellitus, Mini... ORPHA:280365
Perry Syndrome
Weight loss ORPHA:178509
Immunoglobulin A Vasculitis
Erythema, Bruising susceptibility, Angioedema, Purpura, Urticaria, Vascular skin abnormality, Ski... ORPHA:761
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Facial erythema, Leukemia, Intrauterine ... OMIM:210900
Nephronophthisis 19
Cholestasis, Bile duct proliferation, Hepatic fibrosis, Hepatomegaly, Splenomegaly, Malformation ... OMIM:616217
Subcorneal Pustular Dermatosis
Autoimmunity, Increased circulating antibody level, Systemic lupus erythematosus, Rheumatoid arth... ORPHA:48377
Skin fragility-woolly hair syndrome
Palmoplantar scaling skin, Palmoplantar erythema, Fragile skin OMIM:607655
Melioidosis
Lung abscess, Liver abscess, Osteoarthritis, Parotitis, Hepatitis, Septic arthritis, Foot osteomy... ORPHA:31202
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Goiter, Small for gestational age, Thyroid hyperplasia, Hyperthyroidism, Activating thyroid-stimu... ORPHA:424
Thymic Carcinoma
Neoplasm of the thymus, Weight loss ORPHA:99868
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Inflammatory abnormality of the skin, Hepatomegaly, B lymphocytopenia, Reduced red cell adenosine... OMIM:102700
Aredyld Syndrome
Lipoatrophy, Cachexia, Type II diabetes mellitus, Abnormal dental enamel morphology, Type I diabe... ORPHA:1133
Ichthyosis, Congenital, Autosomal Recessive 3
Erythema OMIM:606545
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Dry skin, Facial erythema OMIM:308800
Sunct Syndrome
Flushing, Facial erythema ORPHA:57145
Purine Nucleoside Phosphorylase Deficiency
Neutropenia in presence of anti-neutropil antibodies, Abnormality of B cell physiology, Pure red ... OMIM:613179
Sitosterolemia 1
Episodic hemolytic anemia, Reticulocytosis, Anemia, Arthritis, Giant platelets, Stomatocytosis, T... OMIM:210250
Palmoplantar Keratoderma And Congenital Alopecia 1
Palmoplantar erythema OMIM:104100
Superficial Epidermolytic Ichthyosis
Erythema ORPHA:455
Familial Hemophagocytic Lymphohistiocytosis
Jaundice, Cholestatic liver disease, Maculopapular exanthema, Hemophagocytosis, Anemia, Skin rash... ORPHA:540
Phosphoglycerate Kinase 1 Deficiency
Reticulocytosis, Erythroid hyperplasia, Hemolytic anemia OMIM:300653
Portal Hypertension, Noncirrhotic, 2
Hepatocellular carcinoma, Hepatomegaly, Portal hypertension, Thrombocytopenia, Nodular regenerati... OMIM:619463
Kikuchi-Fujimoto Disease
Cutaneous photosensitivity, Erythema, Leukopenia, Anemia, Hepatomegaly, Elevated hepatic transami... ORPHA:50918
Fetal Gaucher Disease
Hepatomegaly, Thrombocytopenia, Pancytopenia, Abnormality of the spleen, Flexion contracture, Art... ORPHA:85212
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly OMIM:614979
Von Hippel-Lindau Disease
Polycythemia, Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pallor ORPHA:892
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Pleural Mesothelioma
Weight loss ORPHA:50251
Urachal Cyst
Peritonitis, Erythema, Leukocytosis ORPHA:488
Alexander Disease Type I
Cachexia, Failure to thrive ORPHA:363717
Juvenile Huntington Disease
Weight loss ORPHA:248111
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Eczematoid dermatitis, Autoimmunity, Inflammatory abnormality of the skin, Insulin receptor antib... ORPHA:37042
Liposarcoma
Weight loss ORPHA:69078
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Cholestasis, Progressive Familial Intrahepatic, 1
Rickets, Jaundice, Intrahepatic cholestasis with episodic jaundice, Hepatomegaly, Cirrhosis, Oste... OMIM:211600
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2