Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
Mediterranean fever
Synonyms:
marenostrin,  pyrin,  TRIM20,  FMF

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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 Mefv mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Bacterial Susceptibility Due To Tlr Signaling Pathway Deficiency
Fever, Recurrent bacterial skin infections ORPHA:183713
Multicentric Reticulohistiocytosis
Arthritis, Cachexia, Histiocytosis ORPHA:139436
Acne Inversa, Familial, 3
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613737
Macrophage Activation Syndrome
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... ORPHA:158061
Aicardi-Goutieres Syndrome 5
Arthropathy, Chilblains, Flexion contracture, Increased circulating interferon-gamma concentratio... OMIM:612952
Immunodeficiency 15B
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Chronic oral candidiasis, ... OMIM:615592
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating interleukin 6 concentration, Increased circulating interferon-gamma concent... ORPHA:540
Lymphoproliferative Syndrome, X-Linked, 2
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Acne, Recurrent skin infections, Aplastic anemi... OMIM:300635
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Skin rash, Recurrent pn... OMIM:617585
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia... OMIM:614470
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Recurrent pneumonia, Decreased circulating total IgM, Inflammation of... OMIM:619281
Immunodeficiency 51
Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic mucocutaneous candidiasis, Recurre... OMIM:613953
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphopenia, Psoriasiform lesion, Eosinophilia, Increased circulating IgA level, Autoimmune throm... ORPHA:169154
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Abnormality of the to... ORPHA:47
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Skin rash, Histiocytosis ORPHA:157997
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Failure to thrive in infa... OMIM:606367
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Short stature, Cachexia, Joint stiffness ORPHA:1144
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Lymphopenia, Pneumonia, Eosinophilia, Recurrent pneumonia, Hepatitis, H... ORPHA:169160
Glycoprotein Storage Disease
Splenomegaly, Gout OMIM:232900
Immunodeficiency 85 And Autoimmunity
Lymphopenia, Failure to thrive in infancy, Eczema, Oligoarthritis, Growth delay, Decreased circul... OMIM:619510
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Generalized lymphadenopathy, Uveitis, Inflammation of the large intestine, Co... OMIM:614700
Fever, Familial Lifelong Persistent
Fever OMIM:228400
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Schnitzler Syndrome
Hepatomegaly, Increased bone mineral density, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Ly... ORPHA:37748
Mannose-Binding Lectin Deficiency
Failure to thrive, Recurrent skin infections OMIM:614372
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... OMIM:202700
Immunodeficiency 91 And Hyperinflammation
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Membranoproliferative glomeru... OMIM:619644
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Generalized lymphadenopathy, El... OMIM:615559
Mulibrey Nanism
Intrauterine growth retardation, Short stature, Cachexia ORPHA:2576
Kerion Celsi
Fever, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ski... ORPHA:499
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia, Increase... OMIM:304790
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Recurrent aphthous stoma... ORPHA:2688
Activated Pi3K-Delta Syndrome
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent tonsillitis, Bronchiectasis, Decreased circulati... ORPHA:397596
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... OMIM:601457
Immunodeficiency 8 With Lymphoproliferation
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:615401
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatit... ORPHA:444463
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Colitis, Decreased circulating Ig... OMIM:619802
Peeling Skin Syndrome 1
Short stature, Eosinophilia, Pruritus, Increased circulating IgE level, Scaling skin, Erythroderma OMIM:270300
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Acne, Increased bone mineral density, Cachex... ORPHA:77297
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia, Joint stiffness ORPHA:1216
Immunodeficiency 104
Hepatomegaly, Pneumonia, Eczema, Splenomegaly, Chronic mucocutaneous candidiasis, Lymphadenopathy... OMIM:608971
Graft Versus Host Disease
Fasciitis, Myositis, Limited elbow movement, Gastrointestinal inflammation, Scaling skin, Stiff i... ORPHA:39812
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Pancytopenia, Skin rash,... OMIM:619924
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthrit... OMIM:607850
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Lymphopenia, Autoimmune thrombocytopenia, Splenomeg... OMIM:617514
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Lymphopenia, Inflammatory abnormality of the skin, Sinusitis, Absence of lymph node germinal cent... ORPHA:277
Chilblain Lupus 2
Chilblains OMIM:614415
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Leukopenia, Decreased circulating IgG level, H... OMIM:301082
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Acne, Thrombocytosis, Microcytic anemia, Elbow flexion contracture, Sterile arthrit... OMIM:604416
Reticular Dysgenesis
Skin rash, Abnormality of neutrophils, Skin ulcer, Weight loss, Decreased circulating antibody le... ORPHA:33355
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Recurrent skin infections, Increased circulati... OMIM:618944
Autosomal Agammaglobulinemia
Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepatitis, Agamma... ORPHA:33110
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... OMIM:615897
Angel-Shaped Phalangoepiphyseal Dysplasia
Hyperextensibility of the finger joints, Short stature, Premature osteoarthritis, Delayed ossific... OMIM:105835
Osteochondrosis Of The Tarsal Bone
Arthritis, Tarsal sclerosis, Tarsal stippling, Chondritis, Abnormal tarsal ossification, Osteocho... ORPHA:563991
Immunodeficiency 32B
Hepatomegaly, Sinusitis, Neutrophilia, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, B... OMIM:226990
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Bronchiectasis, Decreased proportion of class-switched memory B cells, Lymphadenopa... OMIM:615513
Immunodeficiency 50
Lymphopenia, Neutropenia, Eczema, Decreased circulating antibody level OMIM:300988
Familial Cold Autoinflammatory Syndrome 4
Fever OMIM:616115
Linear Atrophoderma Of Moulin
Pruritus, Inflammatory abnormality of the skin ORPHA:140933
Sézary Syndrome
Hepatomegaly, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Lymphadenopathy, Erythroderm... ORPHA:3162
Anhidrosis, Isolated, With Normal Sweat Glands
Heat intolerance OMIM:106190
Immunodeficiency 27A
Increased inflammatory response, Pneumonia, Splenomegaly, Leukocytosis, Weight loss, Hepatospleno... OMIM:209950
Immunodeficiency 48
Hepatomegaly, Pneumonia, Absence of CD8-positive T cells, Splenomegaly, Eczematoid dermatitis, Fa... OMIM:269840
Diarrhea 5, With Tufting Enteropathy, Congenital
Arthritis, Failure to thrive, Small for gestational age OMIM:613217
Brachydactylous Dwarfism, Mseleni Type
Osteopenia, Increased inflammatory response, Severe short stature, Protrusio acetabuli, Knee oste... ORPHA:2619
Eng-Strom Syndrome
Arthritis, Short stature, Camptodactyly of finger, Intrauterine growth retardation ORPHA:1937
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae ORPHA:50809
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Failure to thrive, Skin... OMIM:300400
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Refractory anemia, Eczema, Leukopenia, Monocytosis, Bone marrow hypocellu... OMIM:616871
Chronic Recurrent Multifocal Osteomyelitis 3
Fever, Palmoplantar pustulosis, Osteomyelitis OMIM:259680
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of naive T cells, Recurrent cutaneous fungal infections, Increased circulati... ORPHA:276
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Sweet Syndrome
Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Increased circula... ORPHA:3243
Pulmonary Blastoma
Recurrent pneumonia, Weight loss ORPHA:64741
Congenital Atransferrinemia
Arthritis, Anemia ORPHA:1195
Immunodeficiency With Hyper-Igm, Type 1
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepato... OMIM:308230
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Thromb... ORPHA:507
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Skin rash, Pneumonia, Abnormality of neutrophil... ORPHA:229717
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Iron deficiency anemia,... ORPHA:37042
Dracunculiasis
Recurrent cutaneous abscess formation, Skin rash, Pruritus, Flexion contracture, Limitation of jo... ORPHA:231
Histiocytosis, Familial Lipochrome
Increased alpha-globulin, Polyarticular arthritis, Increased circulating antibody level, Histiocy... OMIM:235900
Adult-Onset Still Disease
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Neutrophilia, Skin rash, Generalized l... ORPHA:829
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Thrombocytosis, Eczema, Anemia of inadequate production, Megalob... OMIM:617780
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... ORPHA:572
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Absent circulating B cells, Failure to thrive, Thro... OMIM:619693
Griscelli Syndrome
Hepatomegaly, Short stature, Abnormality of neutrophils, Splenomegaly, Jaundice, Hepatitis, Decre... ORPHA:381
Mu-Heavy Chain Disease
Hepatomegaly, Abnormal B cell count, Splenomegaly, Osteoporosis, Osteolysis, Weight loss, Lymphad... ORPHA:100024
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Increased circulating... OMIM:610163
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis OMIM:609655
Autosomal Dominant Severe Congenital Neutropenia
Osteopenia, Acute myeloid leukemia, Recurrent skin infections, Pneumonia, Aplastic anemia, Eosino... ORPHA:486
Immunodeficiency 58
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Allergic rhinitis, Seborrheic... OMIM:618131
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Lymphopenia, Atrophic gastritis, Psoriasiform dermatitis, Autoimmune hemolytic anemia, Eczema, He... OMIM:616100
Chondrocalcinosis 2
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis OMIM:118600
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Immunodeficiency 18
Recurrent otitis media, Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Lymphopenia, Hepatomegaly, Recurrent skin infections, Short stature, Joint sti... OMIM:620210
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated hepatic transaminase, Lymphopenia, Myositis, Sinusitis, Skin rash, Hypertriglyceridemia,... OMIM:617591
Familial Cold Autoinflammatory Syndrome 2
Skin rash, Elevated circulating C-reactive protein concentration, Erythema nodosum, Splenomegaly,... OMIM:611762
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Decreased serum iron, Increas... OMIM:212050
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Kienbock Disease
Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist ORPHA:97332
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Absent isohemagglutinin level, Absent circulating... OMIM:613501
Congenital Ichthyosiform Erythroderma
Short stature, Keratitis, Pruritus, Erythroderma, Failure to thrive ORPHA:79394
Proteasome-Associated Autoinflammatory Syndrome 5
Splenomegaly, Skin rash, Failure to thrive in infancy OMIM:619175
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Lymphopenia, Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Pneumonia, Eosinop... OMIM:602450
Immunodeficiency 15A
Decreased proportion of CD8-positive T cells, Decreased proportion of CD4-positive helper T cells... OMIM:618204
Majeed Syndrome
Inflammatory abnormality of the skin, Osteomyelitis, Skin rash, Anemia of inadequate production, ... OMIM:609628
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, G... OMIM:618986
Autoimmune Lymphoproliferative Syndrome
Uveitis, Increased circulating IgG level, Colitis, Lymphocytosis, Increased B cell count, Decreas... ORPHA:3261
Omenn Syndrome
Hepatomegaly, Failure to thrive, Pneumonia, Eosinophilia, Pruritus, Splenomegaly, Leukocytosis, T... ORPHA:39041
Immunodeficiency 57 With Autoinflammation
Skin rash, Gastritis, Perianal abscess, Bronchiectasis, Decreased circulating antibody level, T l... OMIM:618108
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Recurrent aspiration pneumonia, Hepatomegaly, Portal hypertension, Hepatosplen... ORPHA:79124
Ankylosing Vertebral Hyperostosis With Tylosis
Osteoarthritis, Obesity ORPHA:2206
Acute Generalized Exanthematous Pustulosis
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosino... ORPHA:293173
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Pruritus, Thrombocytopenia, S... ORPHA:905
Diffuse Cutaneous Mastocytosis
Hepatomegaly, Pruritus, Abnormality of the spleen, Lymphadenopathy, Abnormality of the liver, Lym... ORPHA:79456
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Thrombocytosis, Increased circulating l... ORPHA:824
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Generalized lymphadenopathy, Splenomegaly, Bronchiectasis, Re... OMIM:620282
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Knee osteoarthritis, A... ORPHA:566943
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Fever ORPHA:319600
Immunodeficiency, Common Variable, 1
Hepatomegaly, Pneumonia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropenia in presen... OMIM:607594
Immunodeficiency 69
Pancytopenia, Skin rash, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Thrombocytosis, Failure ... OMIM:618963
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent bacterial skin infections, Pneumonia, Increased circulating IgE level, Atopic dermatiti... ORPHA:217390
Cinca Syndrome
Skin rash, Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Pat... OMIM:607115
Moynahan Syndrome
Short stature, Cachexia ORPHA:2574
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, T lymphocytopenia, Infectious encephalitis, Short stature, Autoimmune thrombocytopeni... ORPHA:391487
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated circulating C-reactiv... OMIM:308240
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
Agammaglobulinemia 8B, Autosomal Recessive
Failure to thrive, Pancytopenia, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Neutropenia, Chronic Familial
Neutropenia, Periodontitis, Increased circulating antibody level OMIM:162700
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Arthritis, Limitation of joint mobility, Eosinophilia ORPHA:2582
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Elevated circulating creatine kinase concentration, Increased cir... ORPHA:36234
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Psoriasis-Related Juvenile Idiopathic Arthritis
Anterior uveitis, Abnormality of the knee, Psoriasiform dermatitis, Skin rash, Psoriasiform lesio... ORPHA:85436
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Erythroderma ORPHA:312
Netherton Syndrome
Failure to thrive, Recurrent skin infections, Allergic rhinitis, Eczema, Increased circulating Ig... OMIM:256500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Mild postnatal growth retardation, Ankle swelling, Joint stiffness, Iridocyclitis, Knee osteoarth... ORPHA:85408
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Increased circulating IgG3 level, Recurrent viral ... OMIM:619773
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Failure to thrive in infancy, Cervical lymphadenopathy, Decreased circulating total IgM, B lympho... OMIM:618987
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Neutrophilic infiltration of the skin, Skin rash, Elevated circulating C... OMIM:618048
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma ORPHA:330064
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Bronchiectasi... OMIM:619220
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Anemia, Leukopenia, Increased circulati... OMIM:615285
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Joint stiffness, Arthritis, Progressive joint destruction, Chondritis, Os... ORPHA:564003
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Eosinophilia, Pustule, Myocardit... ORPHA:139402
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Symmetric polyarthritis, Elevated circulating C-reactive protein concentration, Limit... ORPHA:85435
Copper Deficiency, Familial Benign
Failure to thrive, Anemia, Seborrheic dermatitis OMIM:121270
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Pneumonia, Eosinophilia, Splenomegaly, Thrombocytopenia, ... OMIM:603554
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Pruritus, Abnormal sacroiliac joint morp... ORPHA:324964
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Chronic gastritis, Increased circulating interleukin 6 concentration, Skin rash, Elevated circula... OMIM:301074
Cernunnos-Xlf Deficiency
Thrombocytopenia, Decreased circulating antibody level, Growth delay, T lymphocytopenia, B lympho... ORPHA:169079
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co... OMIM:208250
Rat-Bite Fever
Abdominal aseptic abscess, Pericarditis, Maculopapular exanthema, Skin rash, Erythema nodosum, Ly... ORPHA:31205
Bone Marrow Failure Syndrome 4
Short stature, Eczema, Rhizomelia, Thrombocytopenia, Decreased circulating antibody level, Leukop... OMIM:618116
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Hip osteoarthritis, Osteoarthritis, Short stature OMIM:271600
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Fever, Arthritis, Conjunctivitis, Periodic fever OMIM:617772
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Peripheral Dysostosis
Osteoarthritis, Short stature, Joint stiffness ORPHA:1795
Autoinflammation With Arthritis And Dyskeratosis
Hepatomegaly, Failure to thrive, Autoimmune hemolytic anemia, Epidermal acanthosis, Elevated circ... OMIM:617388
Eosinophilic Fasciitis
Fasciitis, Abnormal eosinophil morphology, Myositis, Eosinophilia, Weight loss, Arthritis ORPHA:3165
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Glomerulonephritis, Pneumonia, Plasmacytosis, Increased circulating ... OMIM:247800
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Elevated hepatic transaminase, Pancytopenia, Hypertriglyceridemia, Elevat... ORPHA:158057
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive ORPHA:1954
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Decreased circu... OMIM:613101
Osteoarthritis With Mild Chondrodysplasia
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Hip osteoarthritis OMIM:604864
Bullous Impetigo
Pustule, Recurrent bacterial skin infections, Septic arthritis ORPHA:36237
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, T l... OMIM:619381
Hemochromatosis, Type 3
Elevated hepatic transaminase, Increased circulating ferritin concentration, Elevated transferrin... OMIM:604250
Chondrocalcinosis 1
Osteoarthritis, Chondrocalcinosis OMIM:600668
Tularemia
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Abnormal n... ORPHA:3392
Q Fever
Abnormality of the liver, Cholecystitis, Infectious encephalitis, Hepatomegaly, Maculopapular exa... ORPHA:781
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Chronic myelomon... ORPHA:90280
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Increased circulating IgE level, Bronchiectasis, Hepatosplenomegaly,... OMIM:618982
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Cholangitis, Biliary tract abnormality, Chronic mucocutaneous candidiasis, Agamm... OMIM:209920
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Generalized Pustular Psoriasis
Hyponatremia, Elevated hepatic transaminase, Elevated circulating C-reactive protein concentratio... ORPHA:247353
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Lymphopenia, Failure to thrive, Abnormal T cell count, Skin rash, ... ORPHA:331206
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... ORPHA:2137
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Limitation of joint mobility, Skin ulce... ORPHA:69126
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Hyperextensibility of the finger joints, Ulnar deviation ... OMIM:228000
Hypotrichosis Simplex Of The Scalp
Epidermal acanthosis, Allergic rhinitis, Pruritus, Increased circulating IgE level, Atopic dermat... ORPHA:90368
Immunodeficiency 98 With Autoinflammation, X-Linked
Chronic oral candidiasis, Autoimmune hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopath... OMIM:301078
Immunodeficiency 46
Chronic oral candidiasis, Neutropenia, Decreased circulating antibody level, Conjunctivitis, Inte... OMIM:616740
Agammaglobulinemia, X-Linked
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... OMIM:300755
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Elevated circulating creatine kinase concent... OMIM:615895
Ichthyosis With Confetti
Pruritus, Decreased body weight, Short stature, Erythroderma OMIM:609165
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Disproportionate short stature, Decreased circulating antibody level, Delayed ossif... OMIM:617425
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Hepatomegaly, Autoimmune hemolytic anemia, Lymphocytic interstitial pneumonia, Decreased CD4:CD8 ... OMIM:618495
Idiopathic Achalasia
Recurrent aspiration pneumonia, Weight loss ORPHA:930
Immunodeficiency 62
Autoimmune thrombocytopenia, Decreased proportion of memory B cells, Bronchiectasis, Decreased ci... OMIM:618459
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Skin rash, Increased circulating ferritin concentration, Thro... OMIM:603552
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Increased circulating IgG level, Leukopenia, T lymphocytopenia, Neutropen... ORPHA:443811
Agammaglobulinemia 7, Autosomal Recessive
Erythema nodosum, Agammaglobulinemia, Neutropenia, Reduced natural killer cell count, Panhypogamm... OMIM:615214
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, Agammaglobulinemia, B lymphocytopenia OMIM:616941
Pfapa Syndrome
Splenomegaly, Arthritis, Infectious encephalitis, Weight loss ORPHA:42642
Combined Immunodeficiency, X-Linked
Sinusitis, Pneumonia, Decreased proportion of CD8-positive T cells, Otitis media, Decreased propo... OMIM:312863
Felty Syndrome
Episcleritis, Hepatomegaly, Pericarditis, Sinusitis, Thrombocytopenia, Abnormal joint morphology,... ORPHA:47612
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Psoriasi... OMIM:243150
Inflammatory Skin And Bowel Disease, Neonatal, 1
Pustule, Failure to thrive, Blepharitis, Erythroderma OMIM:614328
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated circulating C-reactive protein concentration, Leukopenia, Hashimoto thyroiditis, Hepatom... OMIM:615688
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Pallor, Bone marrow hypoc... ORPHA:101096
Zika Virus Disease
Maculopapular exanthema, Skin rash, Ankle swelling, Pruritus, Wrist swelling, Thrombocytopenia, A... ORPHA:448237
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Sinusitis, Severe B lymphocytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Lymphopenia, Decr... OMIM:102700
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Recurrent bacterial skin infections, Viral hepatitis, Decreased ci... ORPHA:101330
Pityriasis Rubra Pilaris
Pruritus, Pustule, Eczema, Erythroderma ORPHA:2897
Congenital Muscular Dystrophy Due To Lmna Mutation
Joint hyperflexibility, Limitation of joint mobility, Flexion contracture, Cachexia ORPHA:157973
Immunodeficiency 61
Decreased circulating IgG4 level, Obesity, Agammaglobulinemia, Arthritis, Decreased circulating t... OMIM:300310
Mucopolysaccharidosis, Type Ix
Hyperextensibility at elbow, Acetabular erosions, Short stature, Periarticular soft-tissue mass, ... OMIM:601492
Persistent Polyclonal B-Cell Lymphocytosis
Splenomegaly, Decreased circulating total IgM, Lymphocytosis, Hepatomegaly OMIM:606445
C1Q Deficiency 2
Chilblains, Elevated circulating C-reactive protein concentration, Discoid lupus rash, Bronchiect... OMIM:620321
Krt1-Related Diffuse Nonepidermolytic Keratoderma
Erythema, Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Decreased movement range in... ORPHA:530838
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... OMIM:617241
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Failure to thrive, Eczema, Absent peripheral lymph nodes in presence of infection, Ab... ORPHA:98813
Immunodeficiency 76
Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Growth delay, T lymphocytopenia, Colitis, B l... OMIM:619164
Melorheostosis
Increased bone mineral density, Joint stiffness, Arthritis, Ectopic ossification in muscle tissue... ORPHA:2485
Malignant Hyperthermia, Susceptibility To, 4
Malignant hyperthermia OMIM:600467
Systemic Lupus Erythematosus
Hemolytic anemia, Pericarditis, Lupus nephritis, Arthritis, Leukopenia, Malar rash, Nephritis, Th... OMIM:152700
Agammaglobulinemia 2, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613500
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Hepatomegaly, Pancytopenia, Failure to thrive in infancy, Short stature, Portal hypertension, Hyp... OMIM:613385
Riddle Syndrome
Generalized lymphadenopathy, Short stature, Pneumonia, Elevated circulating alpha-fetoprotein con... ORPHA:420741
Familial Reactive Perforating Collagenosis
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... ORPHA:79147
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Ebola Hemorrhagic Fever
Acute pancreatitis, Maculopapular exanthema, Hepatitis, Leukopenia, Increased circulating antibod... ORPHA:319218
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatomegaly, Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia,... OMIM:612541
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Hyper-Igd Syndrome
Neutrophilia, Skin rash, Increased circulating IgA level, Lymphadenitis, Leukocytosis, Splenomega... OMIM:260920
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:612692
Epiphyseal Dysplasia, Multiple, 3
Abnormal hip joint morphology, Osteoarthritis, Delayed epiphyseal ossification, Limited knee exte... OMIM:600969
Familial Calcium Pyrophosphate Deposition
Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond... ORPHA:1416
Oligoarticular Juvenile Idiopathic Arthritis
Knee osteoarthritis, Oligoarthritis, Uveitis, Increased circulating interferon-gamma concentratio... ORPHA:85410
Immunodeficiency 68
Recurrent skin infections, Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Septic a... OMIM:612260
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Skin rash, Recurrent fractures, Craniosynostosis, Eosinophilia, Recurrent pneumonia, ... OMIM:147060
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Short stature, Pneumonia, Enteroviral hepatitis, Prostatitis, Epididymitis, Panhypogam... OMIM:307200
Immunodeficiency 36 With Lymphoproliferation
Lymphopenia, Short stature, Splenomegaly, Enlarged tonsils, Bronchiectasis, Chronic lymphatic leu... OMIM:616005
Brucellosis
Liver abscess, Elevated circulating C-reactive protein concentration, Knee osteoarthritis, Increa... ORPHA:1304
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis, Ulcerative colitis OMIM:619398
Immunodeficiency 11A
Agammaglobulinemia, Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Decrease... OMIM:615206
Multiple Epiphyseal Dysplasia Type 1
Abnormal acetabulum morphology, Joint stiffness, Osteoarthritis, Disproportionate short stature, ... ORPHA:93308
Agammaglobulinemia 10, Autosomal Dominant
Transient neutropenia, Agammaglobulinemia, Decreased circulating total IgM, Recurrent sinusitis, ... OMIM:619707
Verrucous Hemangioma
Inflammatory abnormality of the skin ORPHA:464318
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Atrophic gastritis, Pancytopenia, Skin rash, Pneumonia, Chilblains, Generalized... OMIM:615846
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated hepatic transaminase, Predominantly dermal neutrophilic infiltrate, Superficial dermal p... ORPHA:284426
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Iron deficiency anemia, Increased B cell count, Elevated proport... OMIM:603909
Hemophagocytic Syndrome Associated With An Infection
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:158048
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Congenital Enterovirus Infection
Abnormal macrophage morphology, Skin rash, Fetal ascites, Myocarditis, Leukocytosis, Thrombocytop... ORPHA:292
Aspergillosis
Sinusitis, Osteomyelitis, Pneumonia, Eosinophilia, Keratitis, Increased circulating IgE level, Br... ORPHA:1163
Autoimmune Polyendocrinopathy Type 4
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... ORPHA:227990
Cranio-Osteoarthropathy
Abnormality of the knee, Eczema, Joint stiffness, Osteoarthritis, Arthritis, Joint swelling ORPHA:1525
Heme Oxygenase 1 Deficiency
Hemolytic anemia, Increased circulating interleukin 6 concentration, Hepatomegaly, Increased circ... OMIM:614034
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pure red cell aplasia, Inflammation of the large intestine, Decreased circula... ORPHA:436159
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Hypersplenism, Thrombocyt... ORPHA:77259
Acute Radiation Syndrome
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Scaling skin, Granulo... ORPHA:454831
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Weight loss, Arthritis, Keratoconj... OMIM:617321
Inflammatory Bowel Disease (Crohn Disease) 1
Ulcerative colitis, Weight loss, Growth delay, Inflammation of the large intestine, Recurrent aph... OMIM:266600
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Pruritus, Recurrent pneumonia, In... OMIM:618282
Psoriasis 1, Susceptibility To
Arthritis, Psoriasiform dermatitis OMIM:177900
Sting-Associated Vasculopathy, Infantile-Onset
Lymphopenia, Myositis, Failure to thrive, Skin rash, Elevated circulating C-reactive protein conc... OMIM:615934
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Primary Sclerosing Cholangitis
Osteopenia, Acute hepatic failure, Abnormal eosinophil morphology, Uveitis, Hypoalbuminemia, Hepa... ORPHA:171
Immunodeficiency, Common Variable, 11
Decreased circulating IgG level, Increased circulating IgE level, Decreased proportion of class-s... OMIM:615767
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Atopic dermatitis, Pneumonia, Abnormally low T cell receptor excision circle l... OMIM:618806
Wolman Disease
Hepatomegaly, Cachexia, Bone-marrow foam cells, Splenomegaly, Growth delay, Hepatic failure, Asci... ORPHA:75233
Autoimmune Polyendocrinopathy Type 3
Osteopenia, Atrophic gastritis, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, He... ORPHA:227982
Roifman Syndrome
Hip contracture, Short stature, Eczema, Eosinophilia, Postnatal growth retardation, Delayed proxi... ORPHA:353298
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Arthropathy, Eczema, Craniosynostosis, Eosinophilia, Keratitis, Increased circulating IgE level, ... OMIM:618523
Cutaneous Mastocytoma
Maculopapular exanthema, Pruritus, Erythema, Lymphadenopathy, Scaling skin, Elevated total serum ... ORPHA:79455
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Juvenile Arthritis
Thrombocytosis, Leukocytosis, Skin rash OMIM:618795
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Leukocytosis, Uveitis, Arthritis, Conjunctivitis OMIM:120100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Recurrent skin infections, Recurrent pneumonia, Increased circulating IgE level, Ato... OMIM:619752
Alpha-Heavy Chain Disease
Hepatomegaly, Dysgammaglobulinemia, Splenomegaly, Lymphadenopathy, Growth delay, Hypocalcemia, As... ORPHA:100025
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa OMIM:613736
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Idiopathic Bronchiectasis
Acute infectious pneumonia, Bronchiectasis, Cachexia ORPHA:60033
Focal Myositis
Myositis, Limitation of joint mobility, Weight loss ORPHA:48918
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Weight loss ORPHA:141152
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... ORPHA:2585
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Skin rash, Failure to thrive in infancy, Elevated circulating C-reactive protein co... OMIM:617099
Mantle Cell Lymphoma
Splenomegaly, Weight loss ORPHA:52416
Lymphoproliferative Syndrome 2
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Recurrent pneumonia, EBV encephalitis,... OMIM:615122
Catastrophic Antiphospholipid Syndrome
Myocarditis, Skin ulcer, Arthritis, Coombs-positive hemolytic anemia, Microangiopathic hemolytic ... ORPHA:464343
Idiopathic Hypereosinophilic Syndrome
Generalized lymphadenopathy, Cholangitis, Colitis, Pallor, Neutrophilia, Ankle swelling, Leukocyt... ORPHA:3260
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Vulvovaginal Gingival Syndrome
Pruritus, Erythema, Epidermal acanthosis, Abnormality of tumor necrosis factor secretion ORPHA:83453
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Proportionate short stature ORPHA:93283
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Meta... ORPHA:2774
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased specific antibody response to polysaccharide vaccine, Splenomegaly, Decreased circulati... OMIM:616452
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Elevated leukocyte alkaline phosphatase OMIM:162830
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Anisocytosis, Hepatic fibrosis, Pallor, Osteoporosis, Skin ulcer, C... ORPHA:231226
Whipple Disease
Hyponatremia, Hepatomegaly, Myositis, Pericarditis, Cachexia, Myocarditis, Splenomegaly, Mediasti... ORPHA:3452
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Extramedullary hematopoiesis, ... ORPHA:79303
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Recurrent otitis media, Failure to thrive, Abnorma... OMIM:615617
Neutrophilic Dermatosis, Acute Febrile
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... OMIM:608068
Prolidase Deficiency
Hepatomegaly, Eczema, Elevated circulating aspartate aminotransferase concentration, Thrombocytop... OMIM:170100
Inflammatory Bowel Disease 28, Autosomal Recessive
Perianal abscess, Enterocolitis, Growth delay, Folliculitis, Pyoderma, Colitis, Crohn's disease OMIM:613148
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immunodeficiency 92
Hepatomegaly, Osteomyelitis, Pneumonia, Cholangitis, Leukocytosis, Decreased proportion of class-... OMIM:619652
Mevalonic Aciduria
Elevated hepatic transaminase, Normocytic hypoplastic anemia, Failure to thrive, Skin rash, Eleva... OMIM:610377
Idiopathic Localized Lipodystrophy
Pruritus, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90158
Tuberculosis
Weight loss ORPHA:3389
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Short stature, Cachexia ORPHA:1389
Rosaï-Dorfman Disease
Dysgammaglobulinemia, Erythema, Osteolysis, Lymphadenopathy, Anemia ORPHA:158014
Sudden Infant Death Syndrome
Malignant hyperthermia OMIM:272120
Boutonneuse Fever
Elevated hepatic transaminase, Skin rash, Maculopapular exanthema, Thrombocytopenia, Cervical lym... ORPHA:83313
Acral Peeling Skin Syndrome
Scaling skin, Erythema, Eczema, Excessive wrinkling of palmar skin ORPHA:263534
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia... OMIM:150550
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
Aggressive Systemic Mastocytosis
Neutropenia, Maculopapular exanthema, Portal hypertension, Leukocytosis, Osteoporosis, Hepatosple... ORPHA:98850
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Conj... ORPHA:567983
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eczema, Eosinophilic infiltration of the esophagus, Eosinophilia, Recurrent pneumonia, Increased ... OMIM:243700
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Chronic gastritis, Liver abscess, Cholangitis, Cholecystitis, Decreased circulating IgG level, Ps... ORPHA:183675
Primary Sjögren Syndrome
Normocytic anemia, Myositis, Chronic active hepatitis, Tubulointerstitial nephritis, Leukopenia, ... ORPHA:289390
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Failure to thrive, Skin rash, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidias... ORPHA:275
Autoimmune Lymphoproliferative Syndrome
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Chronic noninfectious lymphadenopathy, I... OMIM:601859
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, B... OMIM:614069
Ehlers-Danlos Syndrome, Hypermobility Type
Joint dislocation, Osteoarthritis, Joint hypermobility, Joint laxity OMIM:130020
Cholestasis, Progressive Familial Intrahepatic, 10
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:619868
Psoriasis 14, Pustular
Psoriasiform dermatitis, Epidermal acanthosis, Cholangitis, Elevated circulating C-reactive prote... OMIM:614204
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Sinusitis, Short stature, Pneumonia, Bronchiectasis, Increased circulating IgM level, T lymphocyt... OMIM:242860
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Patellar hypopla... ORPHA:477
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Glomerulonephritis, Synovitis, Arthritis, Serositis ORPHA:567544
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy, Decreased circulating antibody level, Partial absence of spe... OMIM:618261
Immunodeficiency 44
Elevated circulating alanine aminotransferase concentration, Decreased circulating total IgM, Abn... OMIM:616636
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Neutropenia, Bronchiectasis, Decreased proportion of class-switched memory B cells, Agammaglobuli... OMIM:619705
Purine Nucleoside Phosphorylase Deficiency
Lymphopenia, Autoimmune hemolytic anemia, Sinusitis, Hypouricemia, Pneumonia, Increased circulati... OMIM:613179
Albers-Schönberg Osteopetrosis
Joint dislocation, Abnormal leukocyte morphology, Osteomyelitis, Short stature, Recurrent fractur... ORPHA:53
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Skin rash, Short stature, Elevated circulating C-reactive protein concentration, In... OMIM:616050
Combined Oxidative Phosphorylation Deficiency 53
Osteomyelitis, Short stature, Hypochromic microcytic anemia, Arthritis, Septic arthritis, Failure... OMIM:619423
Idiopathic Chronic Eosinophilic Pneumonia
Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating IgE le... ORPHA:2902
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Epiphyseal Dysplasia, Multiple, 1
Severe short stature, Joint stiffness, Delayed epiphyseal ossification, Generalized joint laxity,... OMIM:132400
Immunodeficiency, Common Variable, 2
Hepatomegaly, Follicular hyperplasia, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Lymphade... OMIM:240500
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Monoclonal elevation of ... ORPHA:91139
Autoinflammatory Disease, Systemic, X-Linked
Anterior uveitis, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:301081
Immunodeficiency 21
Osteomyelitis, Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, ... OMIM:614172
Immunodeficiency 12
Skin rash, Abnormal lymphocyte count, Short stature, Osteoporosis, Cheilitis, Bronchiectasis, Gro... OMIM:615468
Autoinflammatory-Pancytopenia Syndrome
Arthropathy, Pancytopenia, Membranoproliferative glomerulonephritis, Intestinal inflammation, Chi... OMIM:619858
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Limited hip movement ORPHA:86820
Immunodeficiency 43
Hypoproteinemia, Decreased specific antibody response to polysaccharide vaccine, Lung abscess, Ab... OMIM:241600
Netherton Syndrome
Skin rash, Eczema, Short stature, Increased circulating IgE level, Decreased circulating antibody... ORPHA:634
Whim Syndrome 1
Decreased circulating IgG level, Neutropenia, Bronchiectasis, Decreased circulating antibody level OMIM:193670
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Eosinophilia, Increased circulating IgE level, Atopic dermatitis, Bronchiectasis, Ulce... OMIM:617638
Legionnaires Disease
Hyponatremia, Pericarditis, Myocarditis, Splenomegaly, Jaundice, Hepatitis, Endocarditis, Lymphad... ORPHA:549
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... OMIM:600802
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Reticulocytosis, Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Jaundi... OMIM:194380
Lupus Erythematosus Tumidus
Deep dermal perivascular inflammatory infiltrate, Scaling skin ORPHA:90283
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ... OMIM:615508
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Short stature, Eczema, Autoimmune thrombocytopenia, Neutropenia in p... OMIM:615952
Hereditary Spherocytosis
Reticulocytosis, Hepatomegaly, Extramedullary hematopoiesis, Maculopapular exanthema, Spontaneous... ORPHA:822
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Autoimmune hemolytic anemia, Recurrent skin infections, Recurrent pneumonia, ... OMIM:616576
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Hypocalcemic teta... ORPHA:83471
Bile Acid Synthesis Defect, Congenital, 3
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Hepatic bridging fib... OMIM:613812
Immunodeficiency 17
Autoimmune hemolytic anemia, Eczema, Decreased proportion of CD8-positive T cells, Chronic decrea... OMIM:615607
Classic Mycosis Fungoides
Hepatomegaly, Skin rash, Eczema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Lymphadenopathy, A... ORPHA:2584
Selective Igm Deficiency
Fasciitis, Lymphadenitis, Paraproteinemia, Recurrent cutaneous fungal infections, Decreased propo... ORPHA:331235
Insulin Autoimmune Syndrome
Arthralgia/arthritis, Increased circulating antibody level, Weight loss ORPHA:411593
Immunodeficiency, Common Variable, 7
Fever, Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially ... OMIM:614699
Hemochromatosis, Type 2A
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Arthritis, Increased se... OMIM:602390
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... OMIM:130060
Muckle-Wells Syndrome
Episcleritis, Hepatomegaly, Skin rash, Camptodactyly of finger, Short stature, Splenomegaly, Uvei... ORPHA:575
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Failure to thrive, Recurrent skin infections, Short stature, Decreased circulating antibody level... OMIM:617744
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Osteopenia, Hepatomegaly, Osteomyelitis, Skin rash, Epidermal acanthosis, Elevated circulating C-... OMIM:612852
Letterer-Siwe Disease
Seborrheic dermatitis, Thrombocytopenia, Jaundice, Hepatosplenomegaly, Pallor, Neutropenia, Stoma... OMIM:246400
Bile Acid Synthesis Defect, Congenital, 1
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Conjugated hyperbilirubinemia,... OMIM:607765
Inflammatory Skin And Bowel Disease, Neonatal, 2
Epidermal acanthosis, Pustule, Recurrent pneumonia, Increased circulating IgE level, Failure to t... OMIM:616069
Bullous Pemphigoid
Psoriasiform dermatitis, Eczema, Weight loss ORPHA:703
Sepsis In Premature Infants
Hepatomegaly, Increased circulating interleukin 6 concentration, Small for gestational age, Eleva... ORPHA:90051
Lymphangiectasia, Intestinal
Decreased circulating IgG level, Stillbirth, Intestinal lymphangiectasia, Lymphopenia, Neonatal h... OMIM:152800
Candidiasis, Familial, 8
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis OMIM:615527
Common Variable Immunodeficiency
Elevated hepatic transaminase, Hemolytic anemia, Failure to thrive in infancy, Pneumonia, Autoimm... ORPHA:1572
Immunodeficiency 60 And Autoimmunity
Pancytopenia, Splenomegaly, Bronchiectasis, Ulcerative colitis, Decreased circulating total IgM, ... OMIM:618394
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature, Neutropenia OMIM:610798
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Short stature, Bone-... OMIM:607616
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Joint hyperflexibility, Short stature ORPHA:63442
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Abnormal hemoglob... ORPHA:90039
Mcdonough Syndrome
Short stature, Cachexia ORPHA:2471
Avian Influenza
Elevated hepatic transaminase, Pneumonia, Elevated circulating creatine kinase concentration, Ele... ORPHA:454836
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Decreased circulating antibody level, Decreased circulating total IgM,... ORPHA:859
Ataxia-Telangiectasia
Elevated hepatic transaminase, Failure to thrive, Short stature, Decreased circulating antibody l... ORPHA:100
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Premature osteoarthritis, Short stature, Osteochondritis dissecans OMIM:165800
Panniculitis-Induced Localized Lipodystrophy
Inflammatory abnormality of the skin, Erythema, Abnormal immunoglobulin level ORPHA:90159
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Cachexia, Weight loss, Macrovesicular hepatic steatosis, Cirrhosis... ORPHA:298
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczema, Neutropenia OMIM:300299
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Immunodeficiency 56
Cholangitis, Hepatic failure, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis, Chronic h... OMIM:615207
Peripheral Dysostosis
Hip osteoarthritis OMIM:170700
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Weight loss, Acute leukemia,... ORPHA:3226
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Anemia, Neutropenia OMIM:602079
Complement Component C1S Deficiency
Hepatitis, Hashimoto thyroiditis OMIM:613783
Systemic Lupus Erythematosus, Susceptibility To, 6
Arthritis, Pericarditis, Malar rash OMIM:609939
Pneumocystosis
Abnormal neutrophil count, Weight loss, Acute infectious pneumonia, Interstitial pneumonitis, Inc... ORPHA:723
Pyoderma Gangrenosum
Myositis, Pustule, Skin ulcer, Inflammation of the large intestine, Increased circulating antibod... ORPHA:48104
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis... ORPHA:166002
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Failure to thrive in infancy, Cachexia, Intrauterine growth retardation OMIM:616801
Cryoglobulinemic Vasculitis
Viral hepatitis, Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Skin ulcer, Arthritis, ... ORPHA:91138
Primary Intestinal Lymphangiectasia
Lymphopenia, Peritoneal effusion, Decreased circulating antibody level, Weight loss, Decreased ci... ORPHA:90362
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Chilblains, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Cronkhite-Canada Syndrome
Anemia, Splenomegaly, Cachexia, Hepatomegaly ORPHA:2930
Hemochromatosis, Type 4
Hepatomegaly, Increased circulating ferritin concentration, Osteoarthritis, Elevated transferrin ... OMIM:606069
Desmoplastic Small Round Cell Tumor
Abnormal peritoneum morphology, Hepatomegaly, Neoplasm of the pancreas, Cachexia, Mediastinal lym... ORPHA:83469
Beukes Hip Dysplasia
Osteoarthritis, Shallow acetabular fossae OMIM:142669
Hip Dysplasia, Beukes Type
Abnormal ossification involving the femoral head and neck, Osteoarthritis, Abnormality of bone mi... ORPHA:2114
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Inflammatory abnormality of the skin, Macrocyti... ORPHA:398063
Recon Progeroid Syndrome
Joint laxity, Short stature, Thrombocytopenia, Growth delay, Keratoconjunctivitis sicca, Scaling ... OMIM:620370
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Hyperimmunoglobulinemia D With Periodic Fever
Hepatomegaly, Increased circulating IgA level, Peritonitis, Erythema, Limitation of joint mobilit... ORPHA:343
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... ORPHA:42
Spinocerebellar Ataxia 48
Cachexia OMIM:618093
Cystic Echinococcosis
Abnormal peritoneum morphology, Hepatomegaly, Elevated hepatic transaminase, Abscess, Eosinophili... ORPHA:400
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Membranoproliferative glomerulonephritis, Allergic rhinitis, Eczem... OMIM:615816
Macrocephaly/Autism Syndrome
Joint laxity, Hepatomegaly, Large for gestational age, Splenomegaly, Obesity, Decreased circulati... OMIM:605309
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Short stature, Elevated circulating creatinine concentration, Gout, Hyperuricemia, Neutropenia, I... OMIM:617056
Cinca Syndrome
Joint dislocation, Hepatomegaly, Elevated circulating C-reactive protein concentration, Delayed c... ORPHA:1451
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Pseudoachondroplasia
Joint laxity, Limited hip extension, Joint stiffness, Distal joint laxity, Osteoarthritis, Delaye... ORPHA:750
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Chilblains, Splenomegaly, Intrauterine growth retardation, Thromb... OMIM:615010
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Microvesicular hepatic steatosis, Vacuolated lymphocytes, Hepatic fibrosi... ORPHA:275761
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Elev... OMIM:611182
Christianson Syndrome
Joint hyperflexibility, Arthrogryposis multiplex congenita, Cachexia ORPHA:85278
Coronary Artery Disease, Autosomal Dominant 2
Osteoporosis, Gout OMIM:610947
Immunodeficiency, Common Variable, 3
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... OMIM:613493
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome
Osteoarthritis ORPHA:435804
Immunodeficiency, Common Variable, 13
Acute lymphoblastic leukemia, Pancytopenia, B lymphocytopenia, Decreased circulating antibody level OMIM:616873
Galactose Epimerase Deficiency
Growth delay, Splenomegaly, Weight loss ORPHA:79238
Mixed Connective Tissue Disease
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Hepatomegaly, Joint stiffness, My... ORPHA:809
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Elevated hepatic transaminase, Pruritus, Elevated circulating alkaline phosphatase concentration,... ORPHA:562639
Renpenning Syndrome
Growth delay, Severe short stature, Cachexia, Joint stiffness ORPHA:3242
Igg4-Related Aortitis
Increased inflammatory response, Elevated circulating C-reactive protein concentration, Increased... ORPHA:449400
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Pancytopenia, Failure to thrive in infancy, Cholangitis, Portal hypertensi... ORPHA:228426
Ichthyosis Prematurity Syndrome
Pruritus, Allergic rhinitis, Erythroderma OMIM:608649
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the spleen, Nephritis, Infectious... ORPHA:2552
Takayasu Arteritis
Increased inflammatory response, Skin ulcer, Weight loss, Arthritis, Inflammatory abnormality of ... ORPHA:3287
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the knee, Hip contracture, Severe short stature, Short stature, Protrusio acetabul... ORPHA:99642
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Short stature, Osteoarthritis, Generalized joint laxity, Genu... ORPHA:85198
Cholestasis, Progressive Familial Intrahepatic, 12
Hepatomegaly, Short stature, Elevated circulating aspartate aminotransferase concentration, Pruri... OMIM:620010
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecze... ORPHA:83617
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Decreased circu... OMIM:242150
Rift Valley Fever
Elevated hepatic transaminase, Skin rash, Thrombocytopenia, Jaundice, Hepatitis, Uveitis, Increas... ORPHA:319251
Bazex Syndrome
Pruritus, Scaling skin, Anemia ORPHA:166113
Inflammatory Bowel Disease 11
Inflammation of the large intestine, Weight loss OMIM:191390
Castleman Disease
Increased circulating interleukin 6 concentration, Generalized lymphadenopathy, Abdominal mass, E... ORPHA:160
Melioidosis
Foot osteomyelitis, Unusual skin infection, Liver abscess, Brain abscess, Pneumonia, Lung abscess... ORPHA:31202
Congenital Disorder Of Glycosylation, Type If
Flexion contracture, Dry skin, Scaling skin, Erythroderma, Failure to thrive OMIM:609180
Gaucher Disease
Osteopenia, Joint dislocation, Increased bone mineral density, Osteomyelitis, Pancytopenia, Recur... ORPHA:355
X-Linked Dominant Chondrodysplasia Punctata
Abnormally ossified vertebrae, Short stature, Flexion contracture, Neonatal epiphyseal stippling,... ORPHA:35173
Combined Immunodeficiency Due To Zap70 Deficiency
Recurrent bacterial skin infections, Autoimmune hemolytic anemia, Skin rash, Pneumonia, Eosinophi... ORPHA:911
Sydenham Chorea
Septic arthritis, Endocarditis ORPHA:306731
Fusariosis
Brain abscess, Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis,... ORPHA:228119
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center, Increased circulating IgM level, Decreased circulating IgE... OMIM:606843
Intrahepatic Cholestasis Of Pregnancy
Elevated hepatic transaminase, Skin rash, Small for gestational age, Pruritus, Abnormality of the... ORPHA:69665
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Short stature, Eczema, Postnatal growth retardation, Thyroiditis, Delayed puberty OMIM:618985
Epiphyseal Dysplasia, Multiple, 5
Short stature, Premature osteoarthritis, Genu valgum, Delayed ossification of carpal bones, Delay... OMIM:607078
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Conjugated hyperb... OMIM:208085
Epidermodysplasia Verruciformis
Pustule, Recurrent skin infections, Seborrheic dermatitis ORPHA:302
Peeling Skin Syndrome 3
Pruritus, Erythema, White scaling skin OMIM:616265
Primary Biliary Cholangitis
Portal hypertension, Increased circulating IgA level, Pruritus, Conjugated hyperbilirubinemia, Ja... ORPHA:186
Ichthyosis, Congenital, Autosomal Recessive 5
Acanthocytosis, Epidermal acanthosis, White scaling skin, Erythroderma OMIM:604777
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Increased circulating interleukin 6 concentration, Brain abscess,... ORPHA:544482
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Thrombocytosis, Anemia of ... ORPHA:75564
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Macrocytic anemia, Short stature, Eczema, Postnatal growth retarda... OMIM:212750
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, Pruritus, Splenomegaly, Lymphadenopathy, Weight loss ORPHA:86893
Indolent Systemic Mastocytosis
Hepatomegaly, Maculopapular exanthema, Skin rash, Pruritus, Splenomegaly, Osteoporosis, Lymphaden... ORPHA:98848
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Elevated circulating creatine kinase c... OMIM:614576
Iga Pemphigus
Neutrophilic infiltration of the skin, Monoclonal elevation of circulating IgA, Eosinophilia, Aca... ORPHA:555905
Tetrasomy 12P
Joint hyperflexibility, Short stature, Cachexia ORPHA:884
Sapho Syndrome
Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Abno... ORPHA:793
T-Cell Immunodeficiency With Thymic Aplasia
Lymphopenia, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly, T ly... OMIM:242700
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Myositis, Skin rash, Discoid lupus rash, Lymphadenopathy, Arthritis, Leukopenia, Asc... ORPHA:93552
Bathing Suit Ichthyosis
Multiple joint contractures, Epidermal acanthosis, Palmoplantar scaling skin, Scaling skin, Eryth... ORPHA:100976
Centrifugal Lipodystrophy
Lymphadenitis, Inflammatory abnormality of the skin, Erythema, Scaling skin ORPHA:90156
Vexas Syndrome
Inflammatory abnormality of the skin, Macrocytic anemia, Neutrophilic infiltration of the skin, C... OMIM:301054
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Extramedullary hematopoiesis, Recurrent skin infections, Splenomegaly, Leukocytosis... OMIM:612840
Spondyloepiphyseal Dysplasia, Nishimura Type
Osteoarthritis, Delayed epiphyseal ossification, Disproportionate short-limb short stature OMIM:618618
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Failure to thrive, Macrocytic anemia, Hypercalcemia, Eosinophili... ORPHA:199299
Lamellar Ichthyosis
Chronic otitis media, Pruritus, Short stature, Erythroderma ORPHA:313
Fryns-Smeets-Thiry Syndrome
Short stature, Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility ORPHA:2058
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss ORPHA:1979
Isolated Sedoheptulokinase Deficiency
Short stature, Portal hypertension, Flexion contracture, Hepatitis, Hypochromic microcytic anemia... ORPHA:440713
Ichthyosis, Congenital, Autosomal Recessive 14
Pruritus, Erythema, Scaling skin OMIM:617571
Immunodeficiency 13
Lymphopenia, Recurrent pneumonia, Decreased proportion of CD4-positive helper T cells, Bronchiect... OMIM:615518
Alopecia-Intellectual Disability Syndrome 4
Erythroderma OMIM:618840
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Elevated circulating C-reactive protein concentrati... ORPHA:32960
Dowling-Degos Disease 4
Pruritus, Epidermal acanthosis OMIM:615696
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Osteomyelitis, Pigment gallstones, Increased circulating lacta... ORPHA:232
Aredyld Syndrome
Hepatomegaly, Short stature, Cachexia, Splenomegaly, Intrauterine growth retardation ORPHA:1133
Trichothiodystrophy 1, Photosensitive
Small for gestational age, Short stature, Flexion contracture, Dry skin, Keratoconjunctivitis sic... OMIM:601675
Erythema Nodosum, Familial
Erythema nodosum OMIM:132990
Agammaglobulinemia 1, Autosomal Recessive