Gene Summary

Name:
zinc finger protein 36
Synonyms:
Ttp,  Tristetraprolin,  Nup475,  Tis11,  Zfp-36

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased mean corpuscular volume Zfp36tm1(KOMP)Vlcg HET Early adult 5.64×10-10
increased fasting circulating glucose level Zfp36tm1(KOMP)Vlcg HET Early adult 2.21×10-07
increased leukocyte cell number Zfp36tm1(KOMP)Vlcg HET Early adult 9.69×10-05

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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 Zfp36 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 Zfp36 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Complement Component 4, Partial Deficiency Of
Systemic lupus erythematosus OMIM:120790
Kerion Celsi
Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur... ORPHA:499
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Decreased circulating IgG level, Inflammation of the large intestine, Recurrent pne... OMIM:619281
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Deep dermal perivascular inflamm... ORPHA:90283
Atr-16 syndrome
Abnormal erythrocyte morphology DECIPHER:65
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Increased circulating antib... OMIM:202700
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ... OMIM:603552
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Lympha... ORPHA:444463
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Nephritis, Autoimmunity, Arthritis OMIM:216950
Glycoprotein Storage Disease
Gout, Splenomegaly OMIM:232900
Tn Polyagglutination Syndrome
Autoimmunity OMIM:300622
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Anti-dsDNA antibody positivity, Antinuclear antibody positivity, Lu... OMIM:614420
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Failure to thrive, Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thromboc... OMIM:615285
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Microcytic anemia, Elbow flexion contracture, Hepatosplenomegaly, Pancytopenia, Knee flexion cont... OMIM:604416
Immunodeficiency 42
Recurrent aphthous stomatitis, Splenomegaly, Recurrent cutaneous fungal infections, Hypoplasia of... OMIM:616622
Thrombocythemia 3
Ischemic stroke, Thrombocytosis OMIM:614521
X-Linked Agammaglobulinemia
Cellulitis, Alopecia, Recurrent pneumonia, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash... ORPHA:47
Immunodeficiency 15B
Reduced natural killer cell count, Agammaglobulinemia, Monocytosis, Decreased circulating antibod... OMIM:615592
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis, Systemic lupus erythematosus OMIM:613791
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Conjunctivitis, Lymphadenopathy, Arthritis OMIM:617772
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia OMIM:620534
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Bone marrow hypocellularity, Megaloblastic erythroid hyperplasia, Hypochromic ... ORPHA:75564
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Eczematoid dermatitis, Hypersegmentation of neutrophil nuclei, Lymphopenia, ... OMIM:617780
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad... ORPHA:3392
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Aplastic anemia, Hepatitis, Hemophagocytosis, ... OMIM:300635
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis OMIM:618795
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Complement Component 8 Deficiency, Type I
Systemic lupus erythematosus OMIM:613790
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Type I diabetes mellitus, Eczematoid dermatitis, Hepatitis, Failure to thrive, Decrease... OMIM:304790
Complement Component C1S Deficiency
Hashimoto thyroiditis, Hepatitis, Systemic lupus erythematosus OMIM:613783
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Leukopenia, Acute myeloid leukemia, Monocytos... OMIM:616871
Omenn Syndrome
Pneumonia, Alopecia, Failure to thrive, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal... ORPHA:39041
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Splenomegaly, Increased circulating antibody level, Lymphocytosis, Neutropenia, Mon... OMIM:614470
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Nephrotic syndrome, Camptodactyly of finger, Recurrent aphthous stomatit... ORPHA:575
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Otitis media, ... OMIM:601457
Proteasome-Associated Autoinflammatory Syndrome 3
Elevated circulating hepatic transaminase concentration, Failure to thrive, Lymphopenia, Skin ras... OMIM:617591
C1Q Deficiency 1
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Immunodeficiency, Common Variable, 1
Pneumonia, Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Immunodeficiency 104
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Failure to thrive secondary ... OMIM:608971
Omenn Syndrome
Pneumonia, Alopecia, Failure to thrive, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Ane... OMIM:603554
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Failure to thrive, Skin rash, Hypoplasia of the thymus, Impaired ... OMIM:300400
Immunodeficiency 27A
Pneumonia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased inflammatory response, Salmo... OMIM:209950
Immunodeficiency 53
Recurrent pneumonia, Recurrent otitis media, Skin rash, Impaired lymphocyte transformation with p... OMIM:617585
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Failure to thrive, Kayser-Fle... ORPHA:905
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Abnormal T cell count, Recurrent otitis media, Follicular hyperplasia, Recur... OMIM:240500
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Adult Idiopathic Neutropenia
Lymphopenia, Recurrent aphthous stomatitis, Neutropenia, Monocytosis, Monocytopenia, Increased ci... ORPHA:2688
Isolated Agammaglobulinemia
Pneumonia, Cellulitis, Failure to thrive, Abnormal lymphocyte morphology, Otitis media, Skin rash... ORPHA:229717
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormal neutrophil morphology, Leukopenia, Abnormal erythrocyte mor... ORPHA:86841
Classic Mycosis Fungoides
Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Abnorma... ORPHA:2584
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Immunodeficiency 46
Failure to thrive, Intermittent thrombocytopenia, Neutropenia, Anemia, Conjunctivitis, Chronic or... OMIM:616740
Juvenile Temporal Arteritis
Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis ORPHA:26137
Dysplasia Of Head Of Femur, Meyer Type
Congenital hip dislocation, Limited hip movement, Leukocytosis, Multicentric femoral head ossific... ORPHA:168621
Autosomal Agammaglobulinemia
Cellulitis, Bronchiectasis, Hepatitis, Failure to thrive, Osteomyelitis, Skin rash, Epicanthus, A... ORPHA:33110
Schnitzler Syndrome
Vasculitis, Leukocytosis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Anem... ORPHA:37748
Immunodeficiency 51
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... OMIM:613953
Essential Thrombocythemia
Acute leukemia, Abnormality of thrombocytes, Abnormal cerebral vascular morphology, Transient isc... ORPHA:3318
Adult-Onset Still Disease
Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio... ORPHA:829
Familial Cold Autoinflammatory Syndrome 2
Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Lymphadenopathy, Arthritis,... OMIM:611762
Sézary Syndrome
Alopecia, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly, Hepatomegaly, Erythroderm... ORPHA:3162
Drug Reaction With Eosinophilia And Systemic Symptoms
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters... ORPHA:139402
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Eczematoid dermatitis, Failure to thrive in infancy, Decreased proportion of CD8-positive T cells... OMIM:617241
Muckle-Wells Syndrome
Polyarticular arthritis, Recurrent aphthous stomatitis, Renal insufficiency, Leukocytosis, Conjun... OMIM:191900
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto... OMIM:614700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Immunodeficiency 92
Pneumonia, Decreased circulating IgG level, Partial absence of specific antibody response to teta... OMIM:619652
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Erysipelas, Polyarticular arthritis, Hepatic amyloidosis, Cervical l... OMIM:142680
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Splenomegaly, Skin rash, Hepatomegaly OMIM:619175
Poikiloderma With Neutropenia
Sparse eyebrow, Recurrent pneumonia, Increased circulating lactate dehydrogenase concentration, S... OMIM:604173
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Immunodeficiency 50
Lymphopenia, Decreased circulating antibody level, Eczematoid dermatitis, Neutropenia OMIM:300988
Primary Myelofibrosis
Increased circulating lactate dehydrogenase concentration, Extramedullary hematopoiesis, Hepatosp... ORPHA:824
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Cellulitis, Alopecia universalis, Decreased proportion of CD4+CD25+ regulatory T cells, Type I di... OMIM:606367
Congenital Atransferrinemia
Anemia, Hypothyroidism, Abnormality of the pancreas, Arthritis ORPHA:1195
Griscelli Syndrome
Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Hepatitis, White hair, Prem... ORPHA:381
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial
Perifolliculitis, Alopecia, Alopecia of scalp OMIM:260910
Vexas Syndrome
Inflammatory abnormality of the skin, Arteritis, Neutrophilic infiltration of the skin, Macrocyti... OMIM:301054
Thrombocythemia 1
Impaired ADP-induced platelet aggregation, Splenomegaly, Thrombocytosis, Impaired collagen-induce... OMIM:187950
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Alopecia, Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatospl... ORPHA:169154
Thrombocythemia 2
Thrombocytosis OMIM:601977
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Failure to thrive, Cherry red spot of the macula, Splenom... OMIM:228000
Dominant Beta-Thalassemia
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231226
Clouston Syndrome
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail d... OMIM:129500
Chondrocalcinosis 2
Polyarticular chondrocalcinosis, Osteoarthritis, Arthropathy OMIM:118600
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Ecze... OMIM:615895
Pfapa Syndrome
Splenomegaly, Infectious encephalitis, Weight loss, Lymphadenopathy, Arthritis, Hepatomegaly ORPHA:42642
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Candidiasis, Familial, 1
Alopecia, Chronic mucocutaneous candidiasis, Abnormality of the endocrine system OMIM:114580
Cinca Syndrome
Patellar overgrowth, Hepatosplenomegaly, Leukocytosis, Skin rash, Eosinophilia, Lymphadenopathy, ... OMIM:607115
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Anemia, Leukocytosis OMIM:619398
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, L... ORPHA:169160
Familial Cold Autoinflammatory Syndrome 1
Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Alpha-Heavy Chain Disease
Alopecia, Ascites, Splenomegaly, Hepatomegaly, Lymphadenopathy, Anemia, Growth delay ORPHA:100025
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Benign Cephalic Histiocytosis
Inflammatory abnormality of the skin, Histiocytosis, Skin rash ORPHA:157997
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Elevated red cell adenosine deaminase activity, Persistence of... OMIM:610629
Graft Versus Host Disease
Inflammatory abnormality of the skin, Hemophagocytosis, Hepatosplenomegaly, Elevated circulating ... ORPHA:39812
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Neutrophil Immunodeficiency Syndrome
Abnormality of neutrophil physiology, Leukocytosis ORPHA:183707
Hypocomplementemic Urticarial Vasculitis
Joint dislocation, Ascites, Episcleritis, Skin rash, Renal insufficiency, Splenomegaly, Hematuria... ORPHA:36412
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Aplastic anemia, Periodontitis, Lymphopenia, Recurrent aphthous stomatitis... ORPHA:486
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Immunodeficiency 8 With Lymphoproliferation
Recurrent otitis media, Lymphopenia, Complete or near-complete absence of specific antibody respo... OMIM:615401
Felty Syndrome
Cellulitis, Limitation of joint mobility, Abnormal joint morphology, Synovitis, Weight loss, Neut... ORPHA:47612
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Failure to thrive, Recurrent otitis media, Splenomegaly, Chroni... ORPHA:397596
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis ORPHA:169095
Oliver-Mcfarlane Syndrome
Severe short stature, Alopecia, Central heterochromia, Decreased response to growth hormone stimu... OMIM:275400
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Microcytic anemia, Osteomyelitis, Hepato... OMIM:609628
Mixed Connective Tissue Disease
Nephropathy, Alopecia, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Leukopenia, Join... ORPHA:809
Majeed Syndrome
Inflammatory abnormality of the skin, Failure to thrive, Osteomyelitis, Leukocytosis, Splenomegal... ORPHA:77297
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Systemic-Onset Juvenile Idiopathic Arthritis
Anterior uveitis, Skin rash, Splenomegaly, Joint swelling, Hepatomegaly, Lymphadenopathy, Arthrit... ORPHA:85414
Dermatitis, Atopic
Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Pruritus, Con... OMIM:603165
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, ... OMIM:602450
Sting-Associated Vasculopathy, Infantile-Onset
Pustular rash, Lymphopenia, Leukopenia, Malar rash, Joint stiffness, Skin rash, Telangiectasia, P... OMIM:615934
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Pruritus, Cholestasis, Predominantly der... ORPHA:293173
Systemic Lupus Erythematosus 17
Hypertensive crisis, Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Mitral regurgitatio... OMIM:301080
Osteoarthritis Susceptibility 2
Osteoarthritis, Heberden's node OMIM:140600
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Nail dystrophy, Sparse eyelashes, Na... OMIM:612843
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Failure to thrive, Erythroderma, Ectropion, Pruritus, Short stature, Abnorma... ORPHA:79394
Macrophage Activation Syndrome
Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased... ORPHA:158061
Zika Virus Disease
Myelitis, Ankle swelling, Wrist swelling, Pruritus, Intrauterine growth retardation, Skin rash, I... ORPHA:448237
Beta-Thalassemia Major
Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of hemoglobin F, Hypopituitarism,... ORPHA:231214
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hip osteoarthritis, Ankle swelling, Hepatosplenomegaly, Joint stiffness, Mild postnatal growth re... ORPHA:85408
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Melioidosis
Pneumonia, Cellulitis, Unusual skin infection, Brain abscess, Foot osteomyelitis, Cutaneous absce... ORPHA:31202
Immunodeficiency 18
Reduced natural killer cell count, Recurrent pneumonia, Recurrent otitis media, Lymphopenia, Abno... OMIM:615615
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic tra... OMIM:242150
Chondrocalcinosis 1
Chondrocalcinosis, Osteoarthritis OMIM:600668
Hypotrichosis Simplex
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair ORPHA:55654
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Eczematoid dermatitis,... OMIM:619510
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, S... ORPHA:848
Talo-Patello-Scaphoid Osteolysis
Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis, Enlarged joints ORPHA:50809
Osteopetrosis, Autosomal Recessive 2
Mandibular osteomyelitis, Extramedullary hematopoiesis, Osteomyelitis, Hepatosplenomegaly, Pancyt... OMIM:259710
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Keratoconjunctivitis, Iridocyclitis, Hypoparathyroidism, Female hypogonadism, Atrophic gastritis,... OMIM:240300
Autoinflammatory-Pancytopenia Syndrome
Cholestatic liver disease, Hepatic fibrosis, Type I diabetes mellitus, Granuloma, Failure to thri... OMIM:619858
Multicentric Reticulohistiocytosis
Histiocytosis, Arthritis ORPHA:139436
Eosinophilopenia
Allergic rhinitis, Autoimmunity OMIM:131430
Hypotrichosis 4
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair OMIM:146550
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Th... OMIM:619644
Mantle Cell Lymphoma
Weight loss, Splenomegaly, Lymphadenopathy ORPHA:52416
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Trimethylaminuria
Recurrent pneumonia, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Alopecia, Band keratopathy, Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exoc... OMIM:269200
Biotinidase Deficiency
Alopecia, Organic aciduria, Skin rash, Splenomegaly, Seborrheic dermatitis, Decreased circulating... OMIM:253260
Holocarboxylase Synthetase Deficiency
Perioral eczema, Alopecia, Eczematoid dermatitis, Organic aciduria, Keratoconjunctivitis, Weight ... ORPHA:79242
Alopecia Universalis Congenita
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair OMIM:203655
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Hepatitis, Fa... OMIM:613812
Graham Little-Piccardi-Lassueur Syndrome
Alopecia, Sparse pubic hair, Sparse axillary hair, Pruritus, Sparse scalp hair ORPHA:505
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Endocard... ORPHA:1304
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... ORPHA:91138
Neutrophilia, Hereditary
Splenomegaly, Elevated leukocyte alkaline phosphatase, Neutrophilia OMIM:162830
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Abnormal T cell morphology, Chronic sinusitis, B lym... OMIM:612692
Peeling Skin Syndrome 1
Nail dystrophy, Onycholysis, Eosinophilia, Erythroderma, Brittle hair, Short stature, Pruritus OMIM:270300
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Renal ar... OMIM:615688
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Immunodeficiency 7
Failure to thrive, Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic ... OMIM:615387
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Red urine, Absent eyebrow, Hepatomegaly, Jaundice, Osteopenia, Alo... OMIM:263700
Legionnaires Disease
Cellulitis, Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Renal insufficiency... ORPHA:549
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Conjunctival icterus, Increased mean corpuscular hemoglobin concentration, Hepati... OMIM:194380
Odonto-Onycho Dysplasia-Alopecia Syndrome
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... ORPHA:2722
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Splenomegaly, Hypogonadotropic ... OMIM:602390
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Immunodeficiency 11A
Decreased proportion of CD4+CD25+ regulatory T cells, Agammaglobulinemia, Reduced antigen-specifi... OMIM:615206
Fibrodysplasia Ossificans Progressiva
Synostosis of joints, Alopecia, Limitation of joint mobility, Failure to thrive, Ectopic ossifica... ORPHA:337
Cogan Syndrome
Aortic regurgitation, Vasculitis, Keratitis, Large vessel vasculitis, Leukocytosis, Episcleritis,... ORPHA:1467
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Failure to thrive, Abnormal B cell count, Splenomegaly, Impaire... OMIM:269840
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Congestive heart failure, Lymphopenia, O... ORPHA:247353
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Recurrent otitis media, Pyoderma, Decreased response to growth ... OMIM:307200
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Delayed puberty... OMIM:615704
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Hemophagocyto... ORPHA:540
Bile Acid Synthesis Defect, Congenital, 1
Giant cell hepatitis, Hepatic failure, Intrahepatic cholestasis, Elevated circulating hepatic tra... OMIM:607765
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Eczematoid dermatitis, Neutropenia OMIM:300299
Congenital Syphilis
Pneumonia, Cataract, Keratitis, Extramedullary hematopoiesis, Intrauterine growth retardation, He... ORPHA:499009
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyebrow, Folliculitis, Keratitis, Corneal dystrophy, Nail dystrophy, Sparse eyelashes, Dys... OMIM:308800
Hypotrichosis 11
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... OMIM:615059
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract, Splenomegaly, 3-Methylglutaconic aciduria OMIM:619813
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Anemia, Neutropen... OMIM:614172
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Cellulitis, Vasculitis, Uveitis, Erysipelas, Fasciitis, Leukocytosis, Skin rash, Splenomegaly, Or... ORPHA:32960
Fetal Cytomegalovirus Syndrome
Elevated circulating hepatic transaminase concentration, Hepatitis, Intrauterine growth retardati... ORPHA:294
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Rheumatoid arthritis... ORPHA:227990
Autoimmune Hepatitis
Inflammation of the large intestine, Elevated circulating hepatic transaminase concentration, Gas... ORPHA:2137
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Second degree atrioventricular block, Extramedullary hematopoi... OMIM:617021
Papa Syndrome
Type I diabetes mellitus, Limitation of joint mobility, Crohn's disease, Increased inflammatory r... ORPHA:69126
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Abnormality of the splee... ORPHA:79456
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Atherosclerosis, Cerebral ischemi... ORPHA:494424
Netherton Syndrome
Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Eczematoid dermatitis, Failure to thrive, ... OMIM:256500
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Failure to thrive, Lymphopenia,... OMIM:617514
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome
Alopecia universalis, Periodontitis, Sparse body hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:1008
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Failure to ... ORPHA:79301
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Polyarticular arthritis, Hypereosinophilia, Corneal neovascularization, Autoim... OMIM:617388
Shigellosis
Microangiopathic hemolytic anemia, Urethritis, Cholestasis, Abscess, Corneal ulceration, Acute ki... ORPHA:810
Trichohepatoenteric Syndrome 2
Sparse hair, Failure to thrive, Trichorrhexis nodosa, Intrauterine growth retardation, Chronic he... OMIM:614602
Alopecia Areata 2
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis OMIM:610753
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Hypertension, Coombs-positive hemolytic anemia... OMIM:614034
Alopecia Areata 1
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits OMIM:104000
Ichthyosis With Confetti
Hypertrichosis, Decreased body weight, Hypoplastic nipples, Erythroderma, Ectropion, Pruritus, Sh... OMIM:609165
Copper Deficiency, Familial Benign
Failure to thrive, Seborrheic dermatitis, Curly hair, Anemia, Early balding OMIM:121270
Eng-Strom Syndrome
Short stature, Intrauterine growth retardation, Arthritis, Camptodactyly of finger ORPHA:1937
Kid Syndrome
Trichilemmoma, Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Postnatal growth reta... ORPHA:477
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Abnormal circulating IgG level, Splenomegaly, Sinusitis, Eos... OMIM:226990
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Atopic dermatitis, Alopecia, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chron... OMIM:618282
Immunodeficiency 76
Recurrent pneumonia, Lymphopenia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Colitis, T ly... OMIM:619164
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Alopecia, Decreased response to growth hormone stimulation test, Hypogonadism, Long eyelashes, Cr... ORPHA:3363
Galactose Epimerase Deficiency
Aminoaciduria, Cataract, Splenomegaly, Weight loss, Hepatomegaly, Jaundice, Growth delay ORPHA:79238
Hemochromatosis, Type 3
Cardiomyopathy, Lymphopenia, Arthritis, Neutropenia, Anemia OMIM:604250
Autoimmune Polyendocrinopathy Type 3
Rheumatoid arthritis, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitial nephritis,... ORPHA:227982
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Decreased circulating IgG level, Aplastic anemia, Hemophagocyt... OMIM:308240
Erythrokeratodermia Variabilis
Cataract, Alopecia, Abnormal hair morphology, Skin rash, Generalized hirsutism, Weight loss, Abno... ORPHA:317
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai... OMIM:601705
Hepatitis Delta
Hepatic failure, Hepatitis, Elevated circulating aspartate aminotransferase concentration, Cirrho... ORPHA:402823
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Pneumonia, Plasmacytosis, Lymphopenia, Autoimmune hemolytic anemia, Increased circulating antibod... OMIM:247800
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis OMIM:615612
Hypertriglyceridemia, Transient Infantile
Elevated gamma-glutamyltransferase level, Hepatic fibrosis, Elevated circulating hepatic transami... OMIM:614480
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased mean corpuscular volume, Persistence of hemoglo... ORPHA:232
Immunodeficiency 59 And Hypoglycemia
Arteritis, Acne inversa, Herpes simplex encephalitis, Recurrent aphthous stomatitis, Decreased ci... OMIM:233600
Intrinsic Factor Deficiency
Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Increased mean corpuscular volume, Inc... OMIM:261000
Immunodeficiency 105
Decreased circulating IgG level, Reduced natural killer cell count, Lymphopenia, Hepatosplenomega... OMIM:619924
Immunodeficiency With Hyper-Igm, Type 1
Hepatitis, Failure to thrive, Absence of lymph node germinal center, Hemolytic anemia, Enterovira... OMIM:308230
Cholestasis, Progressive Familial Intrahepatic, 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Splenomegaly, Protein... OMIM:620010
Pachydermoperiostosis
Gastrointestinal hemorrhage, Limitation of joint mobility, Eczematoid dermatitis, Osteolysis, Abn... ORPHA:2796
Cholestasis, Progressive Familial Intrahepatic, 10
Elevated gamma-glutamyltransferase level, Portal fibrosis, Failure to thrive, Elevated circulatin... OMIM:619868
Q Fever
Hepatosplenomegaly, Hematuria, Weight loss, Hepatomegaly, Endocarditis, Vasculitis, Granuloma, Os... ORPHA:781
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Lymphopenia, Psoriasiform dermatitis, Leukocytosis, Autoimmune hemolytic anemia, In... OMIM:243150
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Malar rash, Lupus nephritis, Arthritis, Thrombocytopenia, Hemolytic anemia... OMIM:152700
Alopecia-Intellectual Disability Syndrome 4
Alopecia, Bilateral cryptorchidism, Erythroderma, Micropenis, Hypospadias OMIM:618840
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Decreased circulating IgG level, Recurrent ... OMIM:618986
Neutropenia, Chronic Familial
Periodontitis, Neutropenia, Increased circulating antibody level OMIM:162700
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Pneumonia, Abnormally low T cell receptor excision circle level, Reduced natural killer cell coun... ORPHA:276
Bullous Impetigo
Pustule, Septic arthritis, Recurrent bacterial skin infections, Abnormality of the lymphatic system ORPHA:36237
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Joint contracture of the hand, Failure to thrive, Intrauterine growth re... OMIM:214110
Centrifugal Lipodystrophy
Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduc... ORPHA:90156
Dracunculiasis
Cellulitis, Limitation of joint mobility, Skin rash, Arthritis, Flexion contracture, Pruritus, Re... ORPHA:231
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Recurrent pancreatitis, Splenomegaly OMIM:118830
Osteoarthritis Susceptibility 1
Hip osteoarthritis OMIM:165720
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Atrophic gastritis, Eczematoid dermatitis, Lymphopenia, Psoriasiform dermatitis, Autoimmune hemol... OMIM:616100
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Eczematoid dermatitis,... OMIM:242700
Angel-Shaped Phalangoepiphyseal Dysplasia
Delayed ossification of carpal bones, Hip osteoarthritis, Premature osteoarthritis, Hyperextensib... OMIM:105835
Specific Granule Deficiency 1
Recurrent pneumonia, Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent ne... OMIM:245480
Mu-Heavy Chain Disease
Nephropathy, Bence Jones Proteinuria, Abnormal B cell count, Splenomegaly, Hepatomegaly, Weight l... ORPHA:100024
Coronary Artery Disease, Autosomal Dominant 2
Premature coronary artery atherosclerosis, Gout, Hypertension, Osteoporosis, Sudden cardiac death... OMIM:610947
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells... OMIM:619126
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Erythroderma, Patellar dislocation, Hip dislocation, Abnormality of the nail, C... ORPHA:35173
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Type I diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis OMIM:618858
Syndromic Diarrhea
Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Polycystic kidney dysplasia, ... ORPHA:84064
Sandhoff Disease
Failure to thrive, Congestive heart failure, Cherry red spot of the macula, Splenomegaly, Hepatom... ORPHA:796
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Joint dislocation, Postnatal growth retardation, Lymphopenia, Leukopenia, Joint stiffness, Spleno... OMIM:620210
Autoinflammatory Disease, Systemic, With Vasculitis
Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Elevated circulating a... OMIM:620376
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Minimal change glomerulonephritis, Eczematoid dermatitis, Hepatitis, ... OMIM:620565
Hurler-Scheie Syndrome
Limitation of joint mobility, Cardiomyopathy, Splenomegaly, Generalized hirsutism, Hernia, Hepato... ORPHA:93476
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Neutropenia, Hepatomegaly,... OMIM:612541
Slipped Femoral Capital Epiphyses
Hip osteoarthritis OMIM:182260
Agammaglobulinemia 7, Autosomal Recessive
Reduced natural killer cell count, Panhypogammaglobulinemia, Abnormal T cell morphology, Agammagl... OMIM:615214
Indolent Systemic Mastocytosis
Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,... ORPHA:98848
Mueller-Weiss Syndrome
Joint subluxation, Sclerosis of foot bone, Joint stiffness, Chondritis, Limitation of movement at... ORPHA:566943
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent pneumonia, Inflammatory abnormality of the skin, Failure to thrive, Absence of lymph no... ORPHA:277
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Sp... OMIM:607626
Immunodeficiency 84
Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Acrodermatitis Enteropathica
Alopecia, Ridged fingernail, Blepharitis, Failure to thrive, Abnormal eyebrow morphology, Ridged ... ORPHA:37
Kawasaki Disease
Vasculitis, Hepatitis, Abnormality of nail color, Sterile pyuria, Cervical lymphadenopathy, Conge... ORPHA:2331
Cronkhite-Canada Syndrome
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Splenom... ORPHA:2930
Porphyria Cutanea Tarda
Portal inflammation, Hepatic steatosis, Cutaneous abscess, Increased urinary porphobilinogen, Abn... ORPHA:101330
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Arterial stenosis, Cerebral ischemi... ORPHA:3287
Sjogren Syndrome
Tubulointerstitial nephritis, Rheumatoid arthritis, Autoimmunity, Keratoconjunctivitis sicca OMIM:270150
Quinquaud Folliculitis Decalvans
Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Scarring, Recurre... ORPHA:346
Rat-Bite Fever
Lymphadenitis, Parotitis, Morbilliform rash, Abdominal aseptic abscess, Skin rash, Pustule, Myoca... ORPHA:31205
Onychotrichodysplasia And Neutropenia
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... OMIM:258360
Combined Immunodeficiency-Enteropathy Spectrum
Peritoneal abscess, Type I diabetes mellitus, Hepatitis, Rectal abscess, Intrauterine growth reta... ORPHA:436252
Listeriosis
Arteritis, Abscess, Pustule, Endocarditis, Osteomyelitis, Peritonitis, Hepatic granulomatosis, Gr... ORPHA:533
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased CD4:CD8 ratio, Splenomegaly, Lymph... OMIM:607271
Wiskott-Aldrich Syndrome
Nephropathy, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leukemia,... ORPHA:906
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Cellulitis, Splenomegaly, Increased proportion of transitional B cells, Lymphadenopathy, Decrease... OMIM:615513
Immunodeficiency 9
Failure to thrive, Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogen... OMIM:612782
Primary Sjögren Syndrome
Arteritis, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helper T cells, L... ORPHA:289390
Systemic Lupus Erythematosus, Susceptibility To, 6
Systemic lupus erythematosus, Malar rash, Antinuclear antibody positivity, Arthritis, Pericarditis OMIM:609939
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Alopecia, Atrophic scars, Corneal scarring, Nail dystrophy, Nail dysplasia, Enamel hypo... OMIM:226600
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism, Acne OMIM:604931
Reticuloendotheliosis, X-Linked
Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Recurrent otitis media, Pyoderma, Lymph node hypoplasia, Rec... OMIM:300755
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Abnormal hair morphology, Tricho... ORPHA:634
C1Q Deficiency 2
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vasculitis in the ... OMIM:620321
Interstitial Granulomatous Dermatitis With Arthritis
Inflammatory abnormality of the skin, Rheumatoid arthritis, Rheumatoid factor positive ORPHA:79099
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Alopecia, Toenail dysplasia, Ectopia lentis, Abnormal fingernail morphology, Fingernail dysplasia... ORPHA:2325
Hemochromatosis, Type 1
Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive hea... OMIM:235200
Progressive Familial Intrahepatic Cholestasis
Failure to thrive, Cholestasis, Splenomegaly, Hepatomegaly, Short stature, Jaundice, Reduced bone... ORPHA:172
Congenital Enterovirus Infection
Hepatic failure, Hypotension, Fetal ascites, Hepatitis, Cardiomyopathy, Cholestasis, Leukopenia, ... ORPHA:292
Immunodeficiency, Common Variable, 12, With Autoimmunity
Atrophic gastritis, Alopecia, Recurrent pneumonia, Autoimmune hemolytic anemia, Recurrent sinusit... OMIM:616576
Pili Torti-Onychodysplasia Syndrome
Alopecia universalis, Alopecia, Keloids, Eczematoid dermatitis, Sparse body hair, Congenital onyc... ORPHA:2890
Neonatal Severe Primary Hyperparathyroidism
Aminoaciduria, Abnormal circulating calcium-phosphate regulating hormone concentration, Abnormali... ORPHA:417
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia ORPHA:90044
Osteochondrosis Of The Metatarsal Bone
Sclerosis of foot bone, Progressive joint destruction, Joint stiffness, Chondritis, Osteochondros... ORPHA:564003
Aicardi-Goutieres Syndrome 6
Intrauterine growth retardation, Splenomegaly, Chilblains, Thrombocytopenia, Hepatomegaly, Hemoly... OMIM:615010
Complement Component 2 Deficiency
Systemic lupus erythematosus OMIM:217000
Transcobalamin Deficiency
Decreased circulating IgG level, Lymphopenia, Pancytopenia, Decreased circulating IgA level, Thro... ORPHA:859
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Hepatomegaly, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Isolated Sedoheptulokinase Deficiency
Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficiency, Inguinal hernia, Portal h... ORPHA:440713
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Pancytopenia, Hypersplenism, P... OMIM:613385
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Pruritus, Erythroderma ORPHA:280785
Hepatocellular Carcinoma
Micronodular cirrhosis, Subacute progressive viral hepatitis, Hepatocellular carcinoma OMIM:114550
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Small nail, Fine hair, Trichorrhexis nodosa, Hypogonadism, Tiger tail band... OMIM:601675
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Elevated hemoglobin A1c, Maternal diabetes, Hyperglycemia OMIM:610582
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Myeloproliferative disorder, Hepatomegaly... OMIM:607685
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Reduced delayed hypersensitivity, Autoimmune hemolytic anemia, Splenomegaly, Elevated... OMIM:601859
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Lichen Planopilaris
Alopecia, Hepatitis, Abnormal fingernail morphology, Pterygium, Onycholysis, Pruritus ORPHA:525
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Type I diabetes mellitus, Hepatitis, Failure to thrive in infancy, Acute hepatic failure, Hepatos... ORPHA:228426
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myeloproliferative di... OMIM:254450
Nicolaides-Baraitser Syndrome
Severe short stature, Highly arched eyebrow, Alopecia, Short palpebral fissure, Joint dislocation... ORPHA:3051
Pseudoprogeria Syndrome
Alopecia, Sparse eyebrow, Failure to thrive, Joint stiffness, Decreased body weight, Absent eyela... ORPHA:2985
Scrub Typhus
Hypotension, Renal insufficiency, Skin rash, Splenomegaly, Infectious encephalitis, Lymphadenopat... ORPHA:83317
Ectodermal Dysplasia 6, Hair/Nail Type
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail OMIM:614928
Insulin Autoimmune Syndrome
Autoimmunity, Autoimmune antibody positivity, Arthralgia/arthritis, Systemic lupus erythematosus ORPHA:411593
Gaucher Disease Type 1
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematuria, Cirrhosis, Hepatomegaly, Osteopenia, ... ORPHA:77259
Agammaglobulinemia 4, Autosomal Recessive
Decreased circulating IgG level, Recurrent pneumonia, Recurrent otitis media, Decreased circulati... OMIM:613502
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly, Pruritus ORPHA:86893
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Intestinal lymphangiectasia, Budd-Chiari syndrome, Iron deficiency anemia, Th... OMIM:226300
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Yao Syndrome
Uveitis, Inflammatory abnormality of the skin, Skin rash, Nephrolithiasis, Keratoconjunctivitis s... OMIM:617321
Brachydactylous Dwarfism, Mseleni Type
Severe short stature, Hip osteoarthritis, Osteopenia, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Immunodeficiency 95
Lymphopenia, Decreased circulating IgG3 level, Recurrent viral pneumonia, Increased circulating I... OMIM:619773
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Renal insufficiency, Skin rash, Synovitis, Proteinuria, Hypertension, Glomer... ORPHA:567544
T-Cell Immunodeficiency With Thymic Aplasia
Pneumonia, Eczematoid dermatitis, Failure to thrive, Decreased proportion of naive T cells, Aplas... ORPHA:83471
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Elevated urinary delta-aminolevulinic acid, Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Pediatric Systemic Lupus Erythematosus
Discoid lupus rash, Nephritis, Alopecia, Increased circulating lactate dehydrogenase concentratio... ORPHA:93552
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Inflammation of the large intestine, Craniofacial osteosclerosis, Osteomyelitis, Psor... ORPHA:324964
Immunodeficiency 68
Lymphadenitis, Abscess, T lymphocytopenia, B lymphocytopenia, Septic arthritis, Abnormal natural ... OMIM:612260
Lymphoid Interstitial Pneumonia
Rheumatoid arthritis, Eczematoid dermatitis, Failure to thrive, Abnormality of connective tissue,... ORPHA:79128
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Fasciitis, Myositis, Eosinophilia, Arthritis, Acrocyanosis ORPHA:3165
Wolman Disease
Reduced lysosomal acid lipase activity, Failure to thrive, Acute hepatic failure, Adrenal calcifi... OMIM:620151
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Sparse eyebrow, Sparse body hair, Abnormal dental enamel morphology, Cholestasis, Portal hyperten... ORPHA:59303
Immunodeficiency 67
Abnormal T cell count, Increased circulating IgE level, Transient neutropenia, Abnormal B cell co... OMIM:607676
Ichthyosis, Hystrix-Like, With Deafness
Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Scarring alopecia of scal... OMIM:602540
Rheumatoid Factor-Positive Polyarticular Juvenile Idiopathic Arthritis
Osteopenia, Limitation of joint mobility, Polyarticular arthritis, Progressive joint destruction,... ORPHA:85435
Bacterial Toxic-Shock Syndrome
Cellulitis, Abscess, Glomerulonephritis, Tachycardia, Recurrent skin infections, Shock, Osteomyel... ORPHA:36234
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis, Decreased circulating parathyroid hormone level OMIM:610455
Cholestasis-Lymphedema Syndrome
Elevated circulating hepatic transaminase concentration, Erysipelas, Neonatal cholestatic liver d... OMIM:214900
Avian Influenza
Pneumonia, Myelitis, Acute kidney injury, Increased circulating lactate dehydrogenase concentrati... ORPHA:454836
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Decreased proportion of memory B cells, Reduced natural killer cell count, Inflammation of the la... OMIM:301074
Galactosemia Iii
Aminoaciduria, Galactosuria, Failure to thrive, Splenomegaly, Decreased beta-galactosidase activi... OMIM:230350
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Downslanted palpebral fissures, ... OMIM:616651
Proteasome-Associated Autoinflammatory Syndrome 1
Premature graying of hair, Recurrent otitis media, Microcytic anemia, Arrhythmia, Flexion contrac... OMIM:256040
Trichothiodystrophy
Cryptorchidism, Epicanthus, Neutropenia, Brittle hair, Split nail, Osteopenia, Microcornea, Joint... ORPHA:33364
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating alkaline phosphatase concen... ORPHA:98850
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Acute m... ORPHA:71493
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Failure to thrive, Facial hirsutism, Elevated circula... OMIM:170100
Infantile Sialic Acid Storage Disease
Osteopenia, Fair hair, Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Cardio... OMIM:269920
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Parc Syndrome
Absent eyelashes, Alopecia, Absent eyebrow OMIM:600331
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Anemia, Congenital Dyserythropoietic, Type Ib
Small nail, Erythroid hyperplasia, Splenomegaly, Reticulocytosis, Anemia of inadequate production... OMIM:615631
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... OMIM:619313
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephalitis, Hepat... ORPHA:3386
Inflammatory Skin And Bowel Disease, Neonatal, 1
Paronychia, Failure to thrive, Pustule, Erythroderma, Blepharitis, Onychogryposis OMIM:614328
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent otitis media, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T ce... OMIM:300853
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Weight loss, Neutropenia, Hepatomegaly, Vasculitis, Alop... ORPHA:50918
H Syndrome
Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Hernia, Micropenis, Histiocytosis... ORPHA:168569
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti... OMIM:105200
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Intrauterine growth reta... OMIM:617056
Myasthenia Gravis
Rheumatoid arthritis, Glycosuria, Hepatitis, Primary adrenal insufficiency, Myositis, Hashimoto t... ORPHA:589
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Hepatic failure, Extramedullary hematopoiesis, Ascites, Hepatosplenomegaly, Pancytopen... OMIM:259720
Letterer-Siwe Disease
Hepatosplenomegaly, Seborrheic dermatitis, Neutropenia, Thrombocytopenia, Anemia, Jaundice, Stoma... OMIM:246400
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Ectropion, Flexion contracture, Sparse hair OMIM:242300
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Herpes simplex encephalitis, Recurrent otitis media, Molluscum contagiosum, Hepatosplenomegaly, L... OMIM:618982
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Lymphopenia, Hepatosplenomegaly, Autoimmune thrombocytopeni... ORPHA:391487
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Abnormal hemoglobin, Splenomegaly, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Lamellar Ichthyosis
Abnormality of the nail, Renal insufficiency, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Ec... ORPHA:313
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Refractory Anemia
Normocytic anemia, Bone marrow hypocellularity, Anemia of inadequate production, Macrocytic anemi... ORPHA:98826
Secondary Non-Traumatic Avascular Necrosis
Rheumatoid arthritis, Limitation of joint mobility, Autoimmunity, Systemic lupus erythematosus ORPHA:399180
Mucous Membrane Pemphigoid
Autoimmunity ORPHA:46486
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic anemia, Lymphadenopathy, N... OMIM:619220
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp OMIM:617294
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Elevated circulating hepatic ... OMIM:613404
Hemochromatosis, Type 4
Cataract, Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Osteoarthritis,... OMIM:606069
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczematoid dermatitis, Pustule, Erythroderma, Pruritus, Abnormality of ... ORPHA:2897
Microsporidiosis
Lymphadenitis, Urethritis, Abnormality of the spleen, Decreased proportion of CD4-positive helper... ORPHA:2552
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Reduced delayed hypersensitivity, Malar rash,... OMIM:603909
Crimean-Congo Hemorrhagic Fever
Morbilliform rash, Pancytopenia, Hematuria, Erythema nodosum, Neutrophilia, Hepatomegaly, Jaundic... ORPHA:99827
Aicardi-Goutieres Syndrome 7
Pancytopenia, Chilblains, Hepatic steatosis, Weight loss, Hepatomegaly, Nephrotic syndrome, Atrop... OMIM:615846
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Cholestasis, Decreased circulating T4 concentration, Epicanthus, Hepatomegaly, Polycystic kidney ... OMIM:610199
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Recurrent aphthous stomatitis, Splenomegaly, Abscess... OMIM:150550
Reticular Dysgenesis
Failure to thrive, Aplasia/Hypoplasia of the thymus, Leukopenia, Skin rash, Weight loss, Anemia, ... ORPHA:33355
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Extramedullary hematopoie... ORPHA:313855
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Allergic rhinitis, Osteopenia, Failure to thrive, Exocrine pancreatic insufficiency, Splenomegaly... OMIM:612714
Thumb Deformity And Alopecia
Short stature, Alopecia OMIM:188150
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Failure... OMIM:618534
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, Long palpebral ... OMIM:602562
Albers-Schönberg Osteopetrosis
Mandibular osteomyelitis, Joint dislocation, Osteomyelitis, Genu valgum, Abnormal leukocyte morph... ORPHA:53
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
Synovial lining hyperplasia, Arthropathy, Constrictive pericarditis, Generalized morning stiffnes... OMIM:208250
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Hepatic bridging fibrosis, Hepatic fibrosis, Cholestasis, Elevated circulating aspartate aminotra... OMIM:619658
Pigmented Nodular Adrenocortical Disease, Primary, 4
Osteopenia, Alopecia, Increased circulating cortisol level, Dorsocervical fat pad, Primary hyperc... OMIM:615830
Alopecia-Intellectual Disability Syndrome 1
Alopecia universalis, Alopecia OMIM:203650
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Giant cell hepatitis, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransf... OMIM:208085
Roifman Syndrome
Recurrent pneumonia, Prominent eyelashes, Eczematoid dermatitis, Recurrent otitis media, Postnata... ORPHA:353298
Agammaglobulinemia 9, Autosomal Recessive
Eczematoid dermatitis, Failure to thrive, Seborrheic dermatitis, Absent circulating B cells, Thro... OMIM:619693
Diabetes Mellitus, Permanent Neonatal, 1
Elevated hemoglobin A1c, Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Failure to thrive, Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemo... OMIM:618495
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Lymp... OMIM:618935
Familial Reactive Perforating Collagenosis
Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ... ORPHA:79147
Relapsing Polychondritis
Cataract, Alopecia, Uveitis, Keratitis, Hepatitis, Limitation of joint mobility, Recurrent aphtho... ORPHA:728
Symptomatic Form Of Hfe-Related Hemochromatosis
Arrhythmia, Cirrhosis, Weight loss, Elevated jugular venous pressure, Hepatomegaly, Hypogonadotro... ORPHA:465508
Hepatoerythropoietic Porphyria
Facial hypertrichosis, Red urine, Scleritis, Keratoconjunctivitis, Corneal ulceration, Seborrhoei... ORPHA:95159
Lipodystrophy, Congenital Generalized, Type 3
Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Splenomegaly,... OMIM:612526
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Systemic lupus erythematosus, Malar ras... ORPHA:90280
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Skin rash, Splenomegaly, Weight loss, Lymphadenopathy, Hepatomegaly,... ORPHA:391
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... ORPHA:882
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Agammaglobulinemia, Absent circulating B cells, Neutropenia, Abnormal T c... OMIM:613501
Immunodeficiency By Defective Expression Of Mhc Class Ii
Abnormal CD4:CD8 ratio, Chronic mucocutaneous candidiasis, Failure to thrive, Pancytopenia, Decre... ORPHA:572
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Weight... ORPHA:171
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Ataxia-Telangiectasia
Failure to thrive, Leukemia, Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-p... OMIM:208900
Dyskeratosis Congenita, X-Linked
Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute myeloid leukemia... OMIM:305000
Psoriasis 14, Pustular
Polyarticular arthritis, Psoriasiform dermatitis, Leukocytosis, Nail dystrophy, Pustule, Oligoart... OMIM:614204
Immunodeficiency 115 With Autoinflammation
Eczematoid dermatitis, Intestinal lymphangiectasia, Postnatal growth retardation, Superficial der... OMIM:620632
Farber Disease
Cherry red spot of the macula, Hepatosplenomegaly, Abnormality of the knee, Abnormality of the el... ORPHA:333
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Postnatal growth retardation, Intrauterine ... OMIM:609981
Familial Cold Urticaria
Conjunctivitis, Pruritus, Arthritis ORPHA:47045
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
Pneumonia, Atopic dermatitis, Abnormally low T cell receptor excision circle level, Nail dystroph... OMIM:618806
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, Arrhy... ORPHA:1345
Alpha-Mannosidosis
Synostosis of joints, Cataract, Type II diabetes mellitus, Inguinal hernia, Splenomegaly, Arthrit... ORPHA:61
Vernal Keratoconjunctivitis
Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza... ORPHA:70476
Whipple Disease
Gastrointestinal hemorrhage, Hypotension, Splenomegaly, Infectious encephalitis, Myositis, Hepato... ORPHA:3452
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Eo... OMIM:618999
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutropenia, Anemia OMIM:618849
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Poikilocytosis, Oval macrocytosis, Anemia of inadequate production, Anisocytosis OMIM:603529
Bullous Dystrophy, Hereditary Macular Type
Severe short stature, Alopecia totalis, Abnormality of the nail OMIM:302000
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Impaired platelet adhesion, Abnormal erythrocyte morpholo... ORPHA:324636
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Splenomegaly, Joint contracture, H... OMIM:608540
Porphyria Cutanea Tarda
Alopecia, Facial hypertrichosis, Porphyrinuria, Onycholysis, Cirrhosis, Reduced uroporphyrinogen ... OMIM:176100
Complement Component 4B Deficiency
Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Chronic active hepatitis OMIM:614379
Crandall Syndrome
Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Pili torti, Abnormal testis mo... ORPHA:202
Hyper-Igd Syndrome
Neutrophilia, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Leukocytosis, Skin rash, ... OMIM:260920
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Nephrotic syndrome, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thriv... ORPHA:911
Zellweger-Like Syndrome Without Peroxisomal Anomalies
Alopecia, Failure to thrive, Intrauterine growth retardation, Upslanted palpebral fissure, Epican... ORPHA:50812
Immunodeficiency 102
Decreased circulating IgG level, Reduced natural killer cell count, Increased proportion of CD8-p... OMIM:301082
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an... OMIM:619375
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome
Alopecia totalis, Hypergonadotropic hypogonadism ORPHA:1014
Bleeding Disorder, Platelet-Type, 21
Alopecia, Eczematoid dermatitis, Psoriasiform dermatitis, Thrombocytopenia, Increased mean platel... OMIM:617443
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Alopecia, Generalized hypoplasia of dental enamel, Telecanthus, Severe post... OMIM:203550
Congenital Disorder Of Glycosylation, Type Iih
Failure to thrive in infancy, Elevated circulating aspartate aminotransferase concentration, Inte... OMIM:611182
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Subacute Cutaneous Lupus Erythematosus
Discoid lupus rash, Anti-Ro/SS-A antibody positivity, Anti-dsDNA antibody positivity, Malar rash,... ORPHA:163525
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Pruritus ORPHA:411777
Neonatal Lupus Erythematosus
Hepatic failure, Elevated circulating hepatic transaminase concentration, Aplastic anemia, Atriov... ORPHA:398124
Anti-Glomerular Basement Membrane Disease
Anemia, Vasculitis, Arthritis ORPHA:375
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Cataract, Chronic mucocutaneous candidiasis, Autoimmune hypoparathyroidi... ORPHA:36913
Pseudohypoparathyroidism Type 1B
Cataract, Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level... ORPHA:94089
Moynahan Syndrome
Alopecia, Hypogonadism, Cachexia, Short stature, Sparse hair ORPHA:2574
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased circulating IgG level, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Park... OMIM:619705
Zygomycosis
Cellulitis, Pustule, Acute infectious pneumonia, Neutropenia, Endocarditis, Gastrointestinal hemo... ORPHA:73263
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Inflammatory abnormality of the skin,... OMIM:102700
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Mucoepithelial Dysplasia, Hereditary
Pneumonia, Cataract, Alopecia, Coarse hair, Recurrent pneumonia, Chronic mucocutaneous candidiasi... OMIM:158310
Monosomy 22
Contractures of the large joints, Hepatosplenomegaly, Joint swelling, Epicanthus, Aplasia of the ... ORPHA:96123
Leishmaniasis
Elevated circulating hepatic transaminase concentration, Pancytopenia, Leukopenia, Abnormal macro... ORPHA:507
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Increased mean corpuscular volume, Macrocytic ane... OMIM:300946
Spondyloenchondrodysplasia
Pneumonia, Chronic kidney disease, Vasculitis, Granuloma, Hepatitis, Decreased response to growth... ORPHA:1855
Agel Amyloidosis