Not currently registered for phenotyping at IMPC

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

Gene Summary

tumor suppressor 2, mitochondrial calcium regulator
Fus1,  1190001E22Rik,  Pdap2

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 Tusc2 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 Tusc2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Podocyte foot process effacement, Proteinuria, Autoimmunity, Increased CD4:CD8 ratio, Impaired ly... OMIM:617006
Complement Component 4A Deficiency
Glomerulonephritis, Systemic lupus erythematosus, Vasculitis OMIM:614380
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic anemia, Systemic... OMIM:619375
Vexas Syndrome
Chondritis of pinna, Myelodysplasia, Inflammatory abnormality of the skin, Arteritis, Neutrophili... OMIM:301054
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis, Abnormality of connective tissue OMIM:228550
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Pn... OMIM:247800
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Non-Hodgkin lymphoma, Abnormal proportion of CD4-positive T cells, Abnormal serum ... ORPHA:3261
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgG level, Increased B cell count, Eosinophilia, Iron deficiency anemia, In... OMIM:603909
C1Q Deficiency
Autoimmunity, Membranoproliferative glomerulonephritis, Systemic lupus erythematosus OMIM:613652
Combined Immunodeficiency Due To Dock8 Deficiency
Anal canal squamous carcinoma, T lymphocytopenia, Atopic dermatitis, Increased circulating IgE le... ORPHA:217390
Chilblain Lupus
Skin rash, Systemic lupus erythematosus, Discoid lupus rash, Chronic myelomonocytic leukemia, Rhe... ORPHA:90280
Nephrotic Syndrome, Type 7
Hemolytic anemia, Acute kidney injury, Thrombocytopenia, Glomerulonephritis, Hemolytic-uremic syn... OMIM:615008
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Myelodysplasia, Systemic lupus erythematosus, Monocytosis, Lymphoma, Acute myeloid leukemia, Leuk... OMIM:616871
Systemic Lupus Erythematosus
Nephritis, Systemic lupus erythematosus, Hemolytic anemia, Pericarditis, Thrombocytopenia, Lupus ... OMIM:152700
Extracranial Carotid Artery Aneurysm
Arterial fibromuscular dysplasia, Arteritis, Autoimmunity, Subarachnoid hemorrhage, Arteriosclero... ORPHA:494424
Pauci-Immune Glomerulonephritis
Pulmonary hemorrhage, Arteritis, Acute kidney injury, Scleritis, Small vessel vasculitis, Nephrot... ORPHA:93126
Primary Erythromelalgia
Vasculitis, Leukemia ORPHA:90026
Complement Component 3 Deficiency, Autosomal Recessive
Membranoproliferative glomerulonephritis, Renal insufficiency, Systemic lupus erythematosus, Neph... OMIM:613779
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Lymphoproliferative disorder, Monocytosis, Hemolytic anemia, Autoimmune thrombocyt... OMIM:614470
Erythroleukemia, Familial, Susceptibility To
Refractory anemia with ringed sideroblasts, Erythroid hyperplasia, Thrombocytopenia, Acute myeloi... OMIM:133180
Cutaneous abscess, Bronchiectasis, Decreased proportion of CD4-positive helper T cells, Vasculiti... ORPHA:443811
Igg4-Related Kidney Disease
Increased circulating IgG1 level, Hematuria, Pericarditis, Acute kidney injury, Interstitial pneu... ORPHA:449395
Li-Fraumeni Syndrome
Non-Hodgkin lymphoma, Ovarian neoplasm, Neoplasm, Colorectal polyposis, Hodgkin lymphoma, Breast ... ORPHA:524
Anti-Glomerular Basement Membrane Disease
Hematuria, Autoimmunity, Glomerulopathy, Arthritis, Anemia, Renal insufficiency, Vasculitis, Prot... ORPHA:375
Schnitzler Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Lymphoma, Anemia, Splenomegaly, Vasculi... ORPHA:37748
Lymphoproliferative Syndrome 3
Partial absence of specific antibody response to tetanus vaccine, Lymphoproliferative disorder, D... OMIM:618261
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Decreased circulating antibody ... OMIM:308240
Milroy Disease
Angiosarcoma, Cellulitis, Erysipelas, Abnormal venous morphology, Varicose veins, Neoplasm of the... ORPHA:79452
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Impaired lymphocyte transformation with phytohemagglutinin, Leukemia, Monoclonal immunoglobulin M... OMIM:153600
C3 Glomerulopathy
Hematuria, Acute kidney injury, Autoimmunity, Lipodystrophy, Hypertension, Membranoproliferative ... ORPHA:329918
Acquired Ichthyosis
Multiple myeloma, Autoimmunity, Lymphoma, Neoplasm, Sarcoma, Renal insufficiency, Recurrent skin ... ORPHA:454
Necrobiosis Lipoidica
Atrophic scars, Granuloma, Telangiectasia of the skin, Abnormality of neutrophil physiology, Squa... ORPHA:542592
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess formation, Acne inversa, Squa... OMIM:613736
Cerebral Sarcoma
Neoplasm, Fibrosarcoma OMIM:117600
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Sarcoma, Oropharyngeal squamous cell carcinoma, Squamous cell... OMIM:606719
Idiopathic Non-Lupus Full-House Nephropathy
Skin rash, Acute kidney injury, Synovitis, Hypertension, Abnormal glomerular mesangium morphology... ORPHA:567544
Immunodeficiency, Common Variable, 6
Autoimmune thrombocytopenia, Enlarged kidney, Nephrotic range proteinuria, Mesangial Immune compl... OMIM:613496
Fanconi Anemia, Complementation Group G
Myelodysplasia, Neutropenia, Thrombocytopenia, Anemia, Leukemia OMIM:614082
Nephrotic Syndrome, Type 23
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Focal segmental glomerulo... OMIM:619201
Pericarditis, Intrarenal abscess, Pneumonia, Weight loss, Increased circulating IgG level, Small ... ORPHA:1304
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Neoplasm, Oropharyngeal squamous cell carcinom... ORPHA:443167
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Autoimmunity, Leukocytosis, Acute myeloid leukemia, Multiple lineage myelodysplasia ORPHA:98827
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Skin rash, Lymphoproliferative disorder, Chronic oral candidiasis, Decreased proportion of CD3-po... ORPHA:276
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Hematuria, Loss of subcutaneous adipose tissue from upper limbs, Lipodystrophy, Membranoprolifera... OMIM:613913
X-Linked Lymphoproliferative Disease
Lymphocytosis, Burkitt lymphoma, B-cell lymphoma, Pancytopenia, Histiocytosis, Increased B cell c... ORPHA:2442
N Syndrome
Neoplasm, Hypospadias, Leukemia OMIM:310465
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Myelodysplasia, Acute monocytic leukemia, Prolonged bleeding time,... OMIM:601399
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Glomerulonephritis, Renal insufficiency, Glomerular deposits, Nephrotic syndrome ORPHA:69063
Li-Fraumeni Syndrome
Prostate cancer, Prostate neoplasm, Soft tissue sarcoma, Lung adenocarcinoma, Nephroblastoma, Ost... OMIM:151623
Li-Fraumeni Syndrome 2
Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma OMIM:609265
Autosomal Dominant Severe Congenital Neutropenia
Hemangioma, Myelodysplasia, Monocytosis, Cellulitis, Antineutrophil antibody positivity, Lymphope... ORPHA:486
Nephrotic Syndrome, Type 10
Podocyte foot process effacement, Steroid-resistant nephrotic syndrome, Minimal change glomerulon... OMIM:615861
Primary Sjögren Syndrome
Thyroiditis, Decreased proportion of CD4-positive helper T cells, Optic neuritis, Chronic hepatit... ORPHA:289390
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Schimke Immuno-Osseous Dysplasia
Non-Hodgkin lymphoma, Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8... ORPHA:1830
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Malignant eosinophil proliferation, Eosinophilia OMIM:131440
Xeroderma Pigmentosum Variant
Basal cell carcinoma, Squamous cell carcinoma, Keratitis, Telangiectasia, Melanoma ORPHA:90342
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia, Maculopapular exanthema ORPHA:157991
Acquired Idiopathic Sideroblastic Anemia
Myelodysplasia, Hypochromic anemia, Thrombocytosis, Leukocytosis, Refractory anemia with ringed s... ORPHA:75564
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias OMIM:247640
Takayasu Arteritis
Increased inflammatory response, Hypertensive crisis, Weight loss, Vascular dilatation, Hypertens... ORPHA:3287
Immunodeficiency 59 And Hypoglycemia
Hypochromic anemia, Arteritis, Leukocytosis, Decreased circulating antibody level, Stomatitis, Th... OMIM:233600
Immunodeficiency 57 With Autoinflammation
Partial absence of specific antibody response to tetanus vaccine, T lymphocytopenia, Inflammation... OMIM:618108
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Hematuria, Membranoproliferative glomerulon... OMIM:608709
Sweet Syndrome
Abnormal serum interleukin level, Abnormality of tumor necrosis factor secretion, Neoplasm, Breas... ORPHA:3243
Lupus Erythematosus Tumidus
Anti-dsDNA antibody positivity, Anti-La/SS-B antibody positivity, Autoimmune antibody positivity,... ORPHA:90283
Aicardi-Goutieres Syndrome 7
Atopic dermatitis, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Nephroti... OMIM:615846
Autoimmune Hemolytic Anemia, Warm Type
Lymphoproliferative disorder, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune he... ORPHA:90033
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Renal insufficiency, Minimal ... OMIM:256020
Immunodeficiency 23
Increased circulating IgM level, Hemolytic anemia, Increased circulating IgE level, Bronchiectasi... OMIM:615816
Autoimmune Hepatitis
Inflammation of the large intestine, Acute hepatitis, Spider hemangioma, Antineutrophil antibody ... ORPHA:2137
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Neoplasm, Anemia, Sinusitis, Eczema, Otit... ORPHA:906
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Bronchiectasis, Thyroiditis, Oropharyngeal squamous cell carcinoma, Pulmonary arterial hypertensi... ORPHA:391487
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Meige Disease
Angiosarcoma, Cellulitis, Atypical scarring of skin, Recurrent bacterial skin infections, Varicos... ORPHA:90186
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity, Squamous cell carcinoma OMIM:613988
Alpha-Thalassemia-Myelodysplastic Syndrome
Myelodysplasia, Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, A... ORPHA:231401
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, E... OMIM:304790
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Hemolytic anemia, Autoimmune thrombocytopenia, Bronchiectasis, Dec... ORPHA:1572
Skin rash, Systemic lupus erythematosus, Hematuria, Autoimmune thrombocytopenia, Autoimmunity, Au... ORPHA:1855
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Apocrine hidrocystoma, Poroma, Squamous cell carcinoma OMIM:224750
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Schöpf-Schulz-Passarge Syndrome
Basal cell carcinoma, Facial telangiectasia, Ovarian neoplasm, Squamous cell carcinoma ORPHA:50944
Membranoproliferative Glomerulonephritis, X-Linked
Membranoproliferative glomerulonephritis, Cardiac shunt, Lipodystrophy OMIM:305800
Autoinflammation With Infantile Enterocolitis
Skin rash, Pancytopenia, Thrombocytopenia, Reduced natural killer cell count, Splenomegaly, Diffu... OMIM:616050
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Myelodysplasia, Cellulitis, Leukemia OMIM:614038
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Myelodysplasia, Increased mean corpuscular volume OMIM:252270
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Glomerulonephritis, Hematuria, Increased circulating IgA level OMIM:314000
Q Fever
Hematuria, Pericarditis, Anticardiolipin IgG antibody positivity, Antimitochondrial antibody posi... ORPHA:781
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Mesangial hypercellularity, Crescentic glomerulonephritis, Antinuclear anti... OMIM:616414
Igg4-Related Retroperitoneal Fibrosis
Hematuria, Acute kidney injury, Budd-Chiari syndrome, Weight loss, Renal insufficiency, Systemic ... ORPHA:49041
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Myelodysplasia, Thrombocytosis, Abnormal erythrocyte morphology, Acute myel... ORPHA:86841
Abnormal renal tubule morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Chondroc... ORPHA:732
Werner Syndrome
Ovarian neoplasm, Neoplasm, Breast carcinoma, Pulmonary artery stenosis, Melanoma, Acral lentigin... ORPHA:902
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Skin rash, Pancytopenia, Anemia, Leukopenia, Eczema, Recurrent otitis media, Panniculitis, Lupus ... OMIM:615688
C3 Glomerulopathy 3
Glomerulonephritis, Renal insufficiency, Hematuria, Stage 5 chronic kidney disease OMIM:614809
Eosinophilic Granulomatosis With Polyangiitis
Skin rash, Hematuria, Weight loss, Sinusitis, Myocarditis, Renal insufficiency, Myositis, Transie... ORPHA:183
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Myelodysplasia, Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Incr... OMIM:619041
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Internal hemorrhage, Weight lo... ORPHA:69077
Wt Limb-Blood Syndrome
Joint contracture of the 5th finger, Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Immunodeficiency 54
Reduced natural killer cell count, Lymphoproliferative disorder, Failure to thrive, Splenomegaly OMIM:609981
Tn Polyagglutination Syndrome
Autoimmunity, Abnormal erythrocyte morphology OMIM:300622
Tubulointerstitial Nephritis With Uveitis
Panuveitis, Reversible renal failure, Uveitis, Acute tubulointerstitial nephritis, Glomerulonephr... OMIM:607665
Muckle-Wells Syndrome
Camptodactyly of finger, Skin rash, Renal amyloidosis, Uveitis, Nephropathy, Conjunctivitis, Sple... ORPHA:575
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Moyamoya Disease 1
Inflammatory arteriopathy, Telangiectasia, Carotid artery occlusion OMIM:252350
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Hypocomplementemic Urticarial Vasculitis
Skin rash, Hematuria, Small vessel vasculitis, Autoimmunity, Uveitis, Lymphoma, Glomerulopathy, A... ORPHA:36412
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, Colon cancer, T-cell acute lymphoblastic leukemias OMIM:619096
Ataxia-Pancytopenia Syndrome
Abnormal platelet function, Abnormality of neutrophils, Acute myelomonocytic leukemia, Abnormal m... ORPHA:2585
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Acute monocytic leukemia, Thrombocytosis, Neutropenia, A... OMIM:202700
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Increased circulating antibody level, Autoimmunity, Recurrent otitis... OMIM:618495
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Bronchiectasis, Lymphoma, Malar rash, Sm... OMIM:210900
Immunodeficiency 36
Bronchiectasis, Autoimmunity, Chronic lymphatic leukemia, Lymphopenia, B-cell lymphoma, Splenomegaly OMIM:616005
Microscopic Polyangiitis
Peritonitis, Skin rash, Arrhythmia, Hematuria, Pericarditis, Gastrointestinal hemorrhage, Increas... ORPHA:727
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Chronic otitis media, Thrombocyto... ORPHA:3226
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Skin rash, Increased circulating IgM level, Leukocytosis, Panniculitis, Lipodystrophy, Failure to... OMIM:617099
Essential Thrombocythemia
Myelodysplasia, Prolonged bleeding time, Myocardial infarction, Transient ischemic attack, Spleno... ORPHA:3318
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Systemic lupus erythematosus, Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic... ORPHA:444463
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Immunodeficiency 20
Reduced natural killer cell count, Recurrent otitis media, Recurrent sinusitis OMIM:615707
Panniculitis-Induced Localized Lipodystrophy
Vasculitis in the skin, Lipoatrophy, Absence of subcutaneous fat, Reduced subcutaneous adipose ti... ORPHA:90159
Boutonneuse Fever
Skin rash, Renal insufficiency, Increased circulating IgM level, Maculopapular exanthema, Thrombo... ORPHA:83313
Complement Component C1R/C1S Deficiency
Autoimmunity, Discoid lupus rash, Nephritis, Arthritis OMIM:216950
Immunodeficiency 21
Myeloid leukemia, Myelodysplasia, Monocytopenia, Abnormal natural killer cell morphology, Lymphop... OMIM:614172
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Anti-thyroid peroxidase antibody positivity, Increased circulating IgE level, ... ORPHA:277
Peritonitis, Pericarditis, Acute kidney injury, Pneumonia, Myocarditis, Hepatic granulomatosis, O... ORPHA:533
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Leukemia, Aplastic anemia, Pancytopenia OMIM:614743
Nephrotic Syndrome, Type 15
Minimal change glomerulonephritis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome OMIM:617609
Amed Syndrome, Digenic
Myelodysplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia, Persistent left sup... OMIM:619151
Epidermodysplasia Verruciformis
Pustule, Seborrheic dermatitis, Telangiectasia of the skin, Verrucae, Recurrent skin infections, ... ORPHA:302
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Nephroblastoma, Hernia, Meningioma OMIM:602501
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Inflammation of the large intestine, Decreased mean platelet volume, Hemo... OMIM:600903
Pyoderma Gangrenosum
Myeloid leukemia, Inflammation of the large intestine, Myelodysplasia, Pustule, Atrophic scars, R... ORPHA:48104
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Myelodysplasia, Neutropenia OMIM:610738
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Cheilitis Glandularis
Cheilitis, Squamous cell carcinoma, Vascular dilatation, Carcinoma OMIM:118330
Secondary Non-Traumatic Avascular Necrosis
Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis, Neoplasm, Hematological neoplas... ORPHA:399180
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Acute myeloid leukemia, Adenomatous colonic polyposis, Colon cancer OMIM:246470
Chilblain Lupus 2
Vasculitis OMIM:614415
Ichthyosis, Hystrix-Like, With Deafness
Erythroderma, Scarring alopecia of scalp, Squamous cell carcinoma, Punctate keratitis OMIM:602540
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic myelomonocytic leukemia, Abnormal mast cell morphology, Neutrophilia, Eosinophilia, Synco... ORPHA:98849
Fanconi Anemia, Complementation Group P
Horseshoe kidney, Pancytopenia, Anemia, Pelvic kidney, Squamous cell carcinoma OMIM:613951
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Interstitial pneumonitis, Anti-liver cytosolic antigen type 1 antibody positivity, Eczematoid der... ORPHA:37042
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Erythroderma, Leukemia, Cutaneous mastocytosis ORPHA:79456
Complement Factor I Deficiency
Pyelonephritis, Recurrent otitis media, Recurrent sinusitis, Recurrent urinary tract infections, ... OMIM:610984
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Paroxysmal Nocturnal Hemoglobinuria
Abnormal renal physiology, Myelodysplasia, Hemolytic anemia, Angina pectoris, Cerebral artery ste... ORPHA:447
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Basal cell carcinoma, Non-Hodgkin lymphoma, Neoplasm of the rectum, Endometrial carcinoma, Mening... ORPHA:454840
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Increased circulating IgM level, Bronchiectasis, Pneumonia, Reduced natural ki... OMIM:242860
Cutaneous Small Vessel Vasculitis
Skin rash, Recurrent skin infections, Vasculitis ORPHA:889
Malignant Atrophic Papulosis
Peritonitis, Ischemic stroke, Arteritis, Gastrointestinal hemorrhage, Weight loss, Telangiectasia... ORPHA:679
Gastrointestinal stroma tumor, Arrhythmia, Pericarditis, Cellulitis, Chondrocalcinosis, Autoimmun... ORPHA:221
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Inflammation of the large intestine, Lymphocytosis, Decreased mean platelet volume, Thrombocytope... OMIM:617718
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Mismatch Repair Cancer Syndrome 1
Non-Hodgkin lymphoma, Basal cell carcinoma, Adenocarcinoma of the colon, Medulloblastoma, Neurobl... OMIM:276300
Pemphigus Vulgaris, Familial
Autoimmunity, Autoimmune antibody positivity OMIM:169610
Takayasu Arteritis
Arteritis OMIM:207600
Rheumatoid Arthritis
Rheumatoid arthritis, Weight loss, Anti-citrullinated protein antibody positivity, Rheumatoid fac... OMIM:180300
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma, Conjunctivitis, Keratitis, Tel... OMIM:278750
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Skin rash, Autoimmunity, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cell... ORPHA:331206
Cutaneous Neuroendocrine Carcinoma
Basal cell carcinoma, Multiple myeloma, Neoplasm of the outer ear, Carcinoid tumor, Brain neoplas... ORPHA:79140
Systemic Sclerosis
Acute kidney injury, Pericarditis, Chronic kidney disease, Myocarditis, Pulmonary arterial hypert... ORPHA:90291
Palmoplantar Carcinoma, Multiple Self-Healing
Squamous cell carcinoma, Corneal neovascularization, Carcinoma OMIM:615225
Autoimmune Disease
Autoimmunity, Autoimmune antibody positivity OMIM:109100
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Inflammation of the large intestine, Skin rash, Palmoplantar pustulosis, Weight loss, Anemia, Vas... ORPHA:324964
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Desmoid tumors, Hydronephrosis, Intestinal polyposis, Abnor... ORPHA:873
Recurrent Respiratory Papillomatosis
Recurrent pneumonia, Squamous cell carcinoma, Failure to thrive, Syncope ORPHA:60032
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Papillon-Lefèvre Syndrome
Severe periodontitis, Pustule, Cigarette-paper scars, Periodontitis, Squamous cell carcinoma, Liv... ORPHA:678
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Abnormality of neutrophils, Epistaxis, Normocytic anemia, Lymphoma, ... ORPHA:33226
Temporal Arteritis
Retinal arteritis OMIM:187360
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Anti-thyroid peroxidase antibody positivity, Anti-thyroglobulin antibody ... OMIM:618534
Vasculitis, Lymphocytic, Nodular
Nodular inflammatory vasculitis OMIM:192310
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Glomerulonephritis, Chronic kidney disease ORPHA:2172
Cernunnos-Xlf Deficiency
T lymphocytopenia, Autoimmunity, Decreased circulating antibody level, Lymphopenia, Thrombocytope... ORPHA:169079
Cryoglobulinemic Vasculitis
Hematuria, Gastrointestinal hemorrhage, Proteinuria, Viral hepatitis, Glomerulopathy, Keratoconju... ORPHA:91138
Storage Pool Platelet Disease
Myelodysplasia, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Linear Iga Dermatosis
Inflammation of the large intestine, Renal neoplasm, Autoimmunity, Bladder neoplasm, Epistaxis ORPHA:46488
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Glomerulonephritis, Renal insufficiency OMIM:248760
Syndromic Recessive X-Linked Ichthyosis
Testicular seminoma, Renal insufficiency, Unilateral renal agenesis, Acute leukemia ORPHA:281090
Ollier Disease
Hemangioma, Chondrosarcoma, Multiple enchondromatosis, Neoplasm, Sarcoma, Anemia, Visceral angiom... ORPHA:296
Buerger Disease
Vasculitis ORPHA:36258
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Atopic dermatitis, Subarachnoid hemorrhage, Neoplasm, Cerebral vasculitis, Eczema, Eosinophilia OMIM:243700
Igg4-Related Aortitis
Increased circulating IgE level, Increased inflammatory response, Autoimmunity, Increased circula... ORPHA:449400
Nephrotic Syndrome, Type 11
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:616730
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Membranous nephropathy, Failure to thrive, Nephrotic syndrome, Hepatosplenomeg... OMIM:618999
Acute kidney injury, Elevated systolic blood pressure, Autoimmunity, Hypertension, Thrombocytopen... ORPHA:275555
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Enamel hypoplasia, Atrophic scars, Flexion contracture, Corneal scarring, Conjunctivitis, Anemia,... OMIM:226600
Acquired Partial Lipodystrophy
Lymphocytosis, Autoimmunity, Lipoatrophy, Glomerulopathy, Microscopic hematuria, Proteinuria ORPHA:79087
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Erythroderma, Flexion contracture, Squamous cell carcinoma, Absence of subc... OMIM:601675
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Galloway-Mowat Syndrome 2, X-Linked
Glomerular sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Minimal change glomerul... OMIM:301006
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Radiation Proctitis
Arteritis, Hematochezia, Rectal abscess, Abnormality of connective tissue, Abnormal vascular morp... ORPHA:70475
Mast Cell Sarcoma
Mastocytosis, Sarcoma, Weight loss, Splenomegaly ORPHA:66661
Rothmund-Thomson Syndrome
Basal cell carcinoma, Myelodysplasia, Skin rash, Abnormal dental enamel morphology, Neutropenia, ... ORPHA:2909
Bacterial Toxic-Shock Syndrome
Peritonitis, Skin rash, Recurrent urinary tract infections, Pneumonia, Sinusitis, Myocarditis, My... ORPHA:36234
Neutrophilic Dermatosis, Acute Febrile
Small vessel vasculitis, Panniculitis, Increased circulating interleukin 6, Cystic acne, Anemia, ... OMIM:608068
Granulomatosis With Polyangiitis
Skin rash, Hematuria, Pericarditis, Weight loss, Cerebral ischemia, Sinusitis, Renal insufficienc... ORPHA:900
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Chronic oral candidiasis, Decreased specific antibody response to vaccination, Decreased proporti... ORPHA:221139
Idiopathic Steroid-Resistant Nephrotic Syndrome
Peritonitis, Acute kidney injury, Focal segmental glomerulosclerosis, Foamy urine, Abnormal glome... ORPHA:567548
Apc-Related Attenuated Familial Adenomatous Polyposis
Adrenocortical adenoma, Fibrosarcoma, Adenomatous colonic polyposis, Breast carcinoma, Adrenocort... ORPHA:247806
Multiple cutaneous malignancies, Atypical scarring of skin, Lymphangiectasis, Keratoconjunctiviti... ORPHA:182
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Renal hypoplasia, Glomerulonephritis, Inguinal hernia, Stage 5 chronic kidney disease, Chronic tu... OMIM:614376
Lymphedema-Distichiasis Syndrome
Arrhythmia, Fibrosarcoma, Recurrent urinary tract infections, Patent ductus arteriosus, Glomerulo... ORPHA:33001
Hermansky-Pudlak Syndrome 2
Recurrent pneumonia, Prolonged bleeding time, Chronic oral candidiasis, Recurrent otitis media, P... OMIM:608233
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Skin rash, Chronic oral candidiasis, Autoimmunity, Decreased proportion of CD3-positive T cells, ... ORPHA:275
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Reticulocytosis, Recurrent bacterial skin infections, Leukopenia, ... ORPHA:79277
Adult Acute Respiratory Distress Syndrome
Abnormal serum interleukin level, Hypotension, Pneumonia, Abnormality of tumor necrosis factor se... ORPHA:70578
Gardner Syndrome
Adrenocortical adenoma, Ampulla of Vater carcinoma, Fibrosarcoma, Adenomatous colonic polyposis, ... ORPHA:79665
Rothmund-Thomson Syndrome Type 1
Basal cell carcinoma, Myelodysplasia, Abnormal dental enamel morphology, Telangiectasia, Neutrope... ORPHA:221008
Galloway-Mowat Syndrome 7
IgA deposition in the glomerulus, Focal segmental glomerulosclerosis, Renal tubular atrophy, Stag... OMIM:618348
Refractory Anemia With Excess Blasts
Palpitations, Single lineage myelodysplasia, Leukocytosis, Thrombocytopenia, Acute myeloid leukem... ORPHA:86839
Lymphoproliferative Syndrome 1
Lymphoproliferative disorder, Autoimmune thrombocytopenia, Autoimmunity, Autoimmune hemolytic ane... OMIM:613011
Abnormality of the kidney, Varicose veins, Sarcoma, Weight loss ORPHA:69078
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Myelodysplasia, Pancytopenia, Aplastic anemia, Anemia OMIM:614742
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Abnormal urinary color, Autoimmunity, Lymphoma, Congestive heart fa... ORPHA:98375
Systemic Lupus Erythematosus 16
Systemic lupus erythematosus, Nephritis OMIM:614420
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia, Verrucae, Squamous cell carcinoma of the skin OMIM:618309
Isolated Agammaglobulinemia
Skin rash, Cellulitis, Autoimmunity, Abnormality of neutrophils, Abnormal lymphocyte morphology, ... ORPHA:229717
X-Linked Agammaglobulinemia
Skin rash, Recurrent pneumonia, Cellulitis, Autoimmunity, Chronic otitis media, Neutropenia, Weig... ORPHA:47
Felty Syndrome
Recurrent pneumonia, Pericarditis, Cellulitis, Autoimmunity, Abnormal lymphocyte morphology, Chro... ORPHA:47612
Cogan Syndrome
Thrombocytosis, Scleritis, Aortic regurgitation, Leukocytosis, Large vessel vasculitis, Uveitis, ... ORPHA:1467
Yellow Nail Syndrome
Biliary tract neoplasm, Renal neoplasm, Bronchiectasis, Hypoplasia of lymphatic vessels, Nephropa... ORPHA:662
Arrhythmia, Chronic leukemia, Gastrointestinal hemorrhage, Hypotension, Telangiectasia of the ski... ORPHA:98292
Familial Thrombocytosis
Myelodysplasia, Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Peripheral ... ORPHA:71493
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Palpitations, Right ventricular failure, Right bundle branch... ORPHA:70591
Infantile Myofibromatosis
Abnormality of the kidney, Gingival fibromatosis, Benign neoplasm of the central nervous system, ... ORPHA:2591
Selective Igm Deficiency
Non-Hodgkin lymphoma, Cutaneous abscess, Bronchiectasis, Decreased specific antibody response to ... ORPHA:331235
Maffucci Syndrome
Neoplasm of the parathyroid gland, Chondrosarcoma, Ovarian neoplasm, Hemangiomatosis, Multiple en... ORPHA:163634
Localized Scleroderma
Esophagitis, Arrhythmia, Autoimmunity, Flexion contracture, Hashimoto thyroiditis, Uveitis, Progr... ORPHA:90289
Lig4 Syndrome
Leukocytosis, Lymphoma, Pancytopenia, Telangiectasia of the skin, Hypoplasia of penis, Acute leuk... ORPHA:99812
Arteritis, Familial Granulomatous, With Juvenile Polyarthritis
Granulomatous coronary arteritis, Iritis, Rheumatoid arthritis, Vascular dilatation, Hypertension OMIM:108050
Fanconi Anemia, Complementation Group E
Abnormal renal morphology, Horseshoe kidney, Duplicated collecting system, Neutropenia, Reticuloc... OMIM:600901
Mixed-Type Autoimmune Hemolytic Anemia
Skin rash, Systemic lupus erythematosus, Abnormal urinary color, Autoimmune hemolytic anemia, Aut... ORPHA:90036
Oral Submucous Fibrosis
Flexion contracture, Cheilitis, Oropharyngeal squamous cell carcinoma ORPHA:357154
Progressive Osseous Heteroplasia
Osteoarthritis, Sarcoma ORPHA:2762
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, T-cell acute lymphoblastic leukemias OMIM:605724
Nasu-Hakola Disease
Abnormal adipose tissue morphology, Acute leukemia ORPHA:2770
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Autoimmunity, Megaloblastic anemia, Lymphopenia, Decreased c... OMIM:617780
Turcot Syndrome With Polyposis
Melena, Adenomatous colonic polyposis, Neoplasm of the central nervous system, Pilomatrixoma, Cer... ORPHA:99818
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Partial absence of specific antibody response to unconjugated pneumococcus v... OMIM:240500
Fanconi Anemia, Complementation Group A
Abnormal renal morphology, Horseshoe kidney, Duplicated collecting system, Neutropenia, Reticuloc... OMIM:227650
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Hydroureter, Recurrent urinary tract infections, Duplicated collecting system,... ORPHA:79404
Tuberous Sclerosis 2
Shagreen patch, Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Pulmona... OMIM:613254
Dyskeratosis Congenita, X-Linked
Myelodysplasia, Horseshoe kidney, Carcinoma, Pancytopenia, Acute myeloid leukemia, Thrombocytopen... OMIM:305000
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Oliguria, Anemia ORPHA:514
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Iron deficiency anemia, Urinary bladder sphincter dysfunction, Gastrointestinal inflammation, Ren... ORPHA:79408
Cellulitis, Subretinal pigment epithelium hemorrhage, Retinoblastoma, Glioma, Uveitis, Lymphoma, ... ORPHA:790
Omenn Syndrome
Autoimmunity, Leukocytosis, Abnormal lymphocyte morphology, Thyroiditis, Erythroderma, Pneumonia,... ORPHA:39041
Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenocarcinoma of the colon, Multiple renal cysts, Fibroma, Uterine leiomyoma, ... ORPHA:220460
Sapho Syndrome
Inflammation of the large intestine, Skin rash, Pustule, Palmoplantar pustulosis, Synovitis, Enth... ORPHA:793
Insulin Autoimmune Syndrome
Systemic lupus erythematosus, Autoimmunity, Increased circulating antibody level, Weight loss, Au... ORPHA:411593
Rothmund-Thomson Syndrome Type 2
Basal cell carcinoma, Myelodysplasia, Abnormal dental enamel morphology, Neutropenia, Squamous ce... ORPHA:221016
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Flexion contracture, Decreased body weight, Failure to thrive, Anemia,... ORPHA:89842
Enamel hypoplasia, Increased mean corpuscular hemoglobin concentration, Panhypogammaglobulinemia,... ORPHA:33364
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Skin rash, Pustule, Absent natural killer cells, Chronic oral candidiasis, Par... ORPHA:35078
Desmoplastic Small Round Cell Tumor
Neoplasm of the central nervous system, Ovarian neoplasm, Weight loss, Cachexia, Anemia, Sarcoma,... ORPHA:83469
Dohle Bodies And Leukemia
Acute myeloid leukemia, Leukocyte inclusion bodies, Anemia OMIM:223350
Juvenile Dermatomyositis
Skin rash, Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Autoimmuni... ORPHA:93672
Aicardi Syndrome
Hiatus hernia, Hemangioma, Carcinoma, Teratoma, Recurrent pneumonia, Lipoma, Metastatic angiosarc... OMIM:304050
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Restrictive cardiomyopathy, Impaired lymphocyte transformation with phytohemag... OMIM:619313
Alopecia Areata 1
Autoimmunity OMIM:104000
Autoimmune Hemolytic Anemia, Cold Type
Autoimmunity, Abnormal leukocyte morphology, Hemolytic anemia, Splenomegaly ORPHA:228312
Porphyria Due To Ala Dehydratase Deficiency
Myeloproliferative disorder, Purple urine, Abnormal erythrocyte enzyme level, Increased urinary p... ORPHA:100924
Giant Cell Arteritis
Renal insufficiency, Arrhythmia, Hematuria, Pericarditis, Epistaxis, Weight loss, Sudden cardiac ... ORPHA:397
Alport Syndrome 3, Autosomal Dominant
Hematuria, Thickened glomerular basement membrane, Hypertension, Glomerulonephritis, Glomerular b... OMIM:104200
Familial Adenomatous Polyposis 1
Multiple gastric polyps, Medulloblastoma, Adrenocortical adenoma, Carcinoma, Fibroma, Osteoma, Sm... OMIM:175100
Purine Nucleoside Phosphorylase Deficiency
Systemic lupus erythematosus, Decreased urinary urate, Autoimmune thrombocytopenia, Autoimmunity,... ORPHA:760
Diffuse Alveolar Hemorrhage
Hematuria, Antineutrophil antibody positivity, Autoimmunity, Leukocytosis, Weight loss, Thrombocy... ORPHA:90060
T-Cell Receptor-Alpha/Beta Deficiency
Autoimmunity, Hypereosinophilia, Failure to thrive OMIM:615387
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Pulmonary hemorrhage, Abnormal serum interleukin level, Decreased proportion o... ORPHA:79124
Shwachman-Diamond Syndrome 1
Myelodysplasia, Persistence of hemoglobin F, Neutropenia, Pancytopenia, Acute myeloid leukemia, T... OMIM:260400
Kindler Epidermolysis Bullosa
Inflammation of the large intestine, Esophagitis, Abnormal dental enamel morphology, Camptodactyl... ORPHA:2908
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Flexion contracture, Duplicated collecting system, Neutropenia, Reticulocytopen... OMIM:227645
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Hematuria, Vulvar neoplasm, Tracheobronchial leiomyomatosis, Fibroma, Esophageal neoplasm, Weight... ORPHA:1018
Polycythemia Vera
Myelodysplasia, Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chi... ORPHA:729
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Adenocarcinoma of the colon, Pure red cell aplasia, ... ORPHA:124
Methanol Poisoning
Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ... ORPHA:31825
Paternal Uniparental Disomy Of Chromosome 1
Episodic hemolytic anemia, Abnormal dental enamel morphology, Enlarged kidney, Proteinuria, Hyper... ORPHA:251004
Mucous Membrane Pemphigoid
Autoimmunity, Atypical scarring of skin ORPHA:46486
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Renal insufficiency, Facial telangiectasia in butterfly midface distribution, Membranoproliferati... OMIM:137940
Immunodeficiency 27A
Thrombocytosis, Increased circulating IgM level, Increased inflammatory response, Leukocytosis, S... OMIM:209950
Familial Adenomatous Polyposis
Abnormal cementum morphology, Thyroiditis, Colorectal polyposis, Adenomatous colonic polyposis, N... ORPHA:733
Leukocyte Adhesion Deficiency
Peritonitis, Bronchiectasis, Recurrent urinary tract infections, Pneumonia, Lymphocytic interstit... ORPHA:2968
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Rec... OMIM:613179
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Patent ductus arteriosus, Neutropenia, Duplicated collecting system, Reticulocy... OMIM:227646
Immunoglobulin A Deficiency 2
Autoimmunity, Abnormal lymphocyte morphology, Decreased circulating IgA level OMIM:609529
Peritonitis, Skin rash, Pericarditis, Pneumonia, Vasospasm, Abnormality of the bladder, Increased... ORPHA:228123
Terminal Osseous Dysplasia
Fibroma, Camptodactyly of finger, Multiple joint contractures, Camptodactyly of toe OMIM:300244
Autoimmunity, Decreased eosinophil count, Allergic rhinitis OMIM:131430
Bloom Syndrome
Skin rash, Recurrent urinary tract infections, Neoplasm of the breast, Pneumonia, Neoplasm, Malig... ORPHA:125
Tatton-Brown-Rahman Syndrome
Myeloid leukemia, Supraventricular tachycardia with an accessory connection mediated pathway, Neu... ORPHA:404443
Actinic Prurigo
Glomerulonephritis, Pyoderma, Cheilitis OMIM:174770
Kikuchi-Fujimoto Disease
Lymphocytosis, Skin rash, Pustule, Vasculitis in the skin, Neutropenia, Weight loss, Thrombocytop... ORPHA:50918
Lysinuric Protein Intolerance
Argininuria, Leukopenia, Anemia, Hyperlysinuria, Hemophagocytosis, Abnormal renal tubule morpholo... ORPHA:470
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Juvenile Arthritis
Leukocytosis, Skin rash, Thrombocytosis, Antinuclear antibody positivity OMIM:618795
Nijmegen Breakage Syndrome
Hemolytic anemia, Pollakisuria, Autoimmune hemolytic anemia, Glioma, B-cell lymphoma, Neoplasm, T... ORPHA:647
Complement Component C1S Deficiency
Hepatitis, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:613783
Immunodeficiency 31C
Autoimmune hemolytic anemia, Autoimmunity, Lymphopenia, Chronic mucocutaneous candidiasis, Eczema OMIM:614162
Ovarian Fibrothecoma
Peritonitis, Diffuse leiomyomatosis, Ovarian fibroma, Fibrosarcoma ORPHA:314478
Conjunctival telangiectasia, Non-Hodgkin lymphoma, T lymphocytopenia, Bronchiectasis, Decreased p... OMIM:208900
Shwachman-Diamond Syndrome
Skin rash, Myelodysplasia, Chronic neutropenia, Neutropenia, Impaired neutrophil chemotaxis, Norm... ORPHA:811
Hyperzincemia With Functional Zinc Depletion
Skin rash, Vasculitis OMIM:601979
Hereditary Acrokeratotic Poikiloderma
Abnormal renal tubule morphology, Pustule, Camptodactyly of finger, Squamous cell carcinoma, Tela... ORPHA:2907
Retinoblastoma, Lymphoma, Osteosarcoma, Pinealoma, Vitreous hemorrhage, Leukemia, Ewing sarcoma OMIM:180200
Neurofibromatosis Type 1
Lisch nodules, Neoplasm of the gastrointestinal tract, Urinary tract neoplasm, Arterial stenosis,... ORPHA:636
Behçet Disease
Pericarditis, Retrobulbar optic neuritis, Weight loss, Optic neuritis, Pulmonary embolism, Cerebr... ORPHA:117
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Peritonitis, Skin rash, Pericarditis, Cellulitis, Leukocytosis, Uveitis, Orchitis, Conjunctivitis... ORPHA:32960
Immunodeficiency By Defective Expression Of Mhc Class Ii
T lymphocytopenia, Abnormal CD4:CD8 ratio, Skin rash, Chronic hepatitis due to cryptosporidium in... ORPHA:572
Cystic Echinococcosis
Peritoneal abscess, Increased circulating antibody level, Membranous nephropathy, Weight loss, Sp... ORPHA:400
Familial Mediterranean Fever
Peritonitis, Skin rash, Arrhythmia, Pericarditis, Orchitis, Nephropathy, Arthritis, Erysipelas, S... ORPHA:342
Hyperimmunoglobulinemia D With Periodic Fever
Peritonitis, Gastrointestinal hemorrhage, Increased circulating IgA level, Vasculitis, Recurrent ... ORPHA:343
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Anemia, N... ORPHA:3260
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Corneal scarring, Keratoconjunctivitis sicca, Knee flexion c... OMIM:148210
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly ORPHA:86843
Gastrointestinal Stromal Tumor
Skin rash, Neoplasm of the gastrointestinal tract, Gastrointestinal stroma tumor, Gastrointestina... ORPHA:44890
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Pulmonic stenosis, Hypertrophic cardiomyopathy OMIM:613224
Catastrophic Antiphospholipid Syndrome
Anticardiolipin IgG antibody positivity, Abnormal heart valve physiology, Pulmonary embolism, Myo... ORPHA:464343
Pediatric Systemic Lupus Erythematosus
Skin rash, Hematuria, Discoid lupus rash, Leukopenia, Myositis, Renal insufficiency, Microangiopa... ORPHA:93552
Gamma-Heavy Chain Disease
Skin rash, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Autoimmunity, Rheumatoid art... ORPHA:100026
Immunodeficiency 68
T lymphocytopenia, Lymphadenitis, Abnormal natural killer cell count, Septic arthritis, B lymphoc... OMIM:612260
Livedoid Vasculopathy
Systemic lupus erythematosus, Ischemic stroke, Autoimmunity, Leukocytosis, Polycythemia, Abnormal... ORPHA:542643
Inclusion Body Myositis
Autoimmunity ORPHA:611
Hashimoto Thyroiditis
Hashimoto thyroiditis, Autoimmune antibody positivity OMIM:140300
Intermediate Uveitis
Macular scar, Optic neuritis, Tubulointerstitial nephritis, Anterior uveitis, Vasculitis, Psorias... ORPHA:279914
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death
Conjunctival telangiectasia, Leukemia, Facial telangiectasia, Joint contracture of the hand OMIM:208910
Immunodeficiency 69
Skin rash, Thrombocytosis, Leukocytosis, Pancytopenia, Failure to thrive, Splenomegaly, Anemia, H... OMIM:618963
Immunodeficiency 22
Autoimmunity, Decreased proportion of CD4-positive helper T cells, Panniculitis, Failure to thrive OMIM:615758
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Increased circulating IgE level, Autoimmune thro... OMIM:102700
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, And Psychomotor Delay
Myelodysplasia, Bifid ureter, Bronchiectasis, Aortic regurgitation, Neutropenia, Tricuspid regurg... OMIM:601347
Congenital Factor Xiii Deficiency
Myeloid leukemia, Inflammation of the large intestine, Joint hemorrhage, Epistaxis, Cerebral hemo... ORPHA:331
Cowden Syndrome
Adenoma sebaceum, Neoplasm, Colorectal polyposis, Breast carcinoma, Conjunctival hamartoma, Hamar... ORPHA:201
17Q11 Microdeletion Syndrome
Atypical neurofibromatosis, Plexiform neurofibroma, Breast carcinoma, Pulmonary arterial hyperten... ORPHA:97685
Kawasaki Disease
Skin rash, Arrhythmia, Pericarditis, Proteinuria, Leukocytosis, Cholecystitis, Cheilitis, Arthrit... ORPHA:2331
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Myeloid leukemia OMIM:616604
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227990
Cocaine Intoxication
Ventricular arrhythmia, Hematuria, Acute kidney injury, Supraventricular arrhythmia, Hypovolemia,... ORPHA:90068
Peritonitis, Prostatitis, Systemic lupus erythematosus, Autoimmunity, Pneumonia, Neoplasm, Lympho... ORPHA:1546
Drug-Induced Lupus Erythematosus
Serositis, Hematuria, Pericarditis, Thrombocytopenia, Lupus anticoagulant, Malar rash, Autoimmune... ORPHA:231111
Noonan Syndrome 2
Arthrogryposis multiplex congenita, Abnormal coronary artery origin, Patent ductus arteriosus, Pu... OMIM:605275
Secondary Intestinal Lymphangiectasia
Autoimmunity, Decreased circulating antibody level, Lymphopenia, Neoplasm, Recurrent skin infecti... ORPHA:90363
Aicardi-Goutières Syndrome
Moyamoya phenomenon, Calcification of the aorta, Aortic aneurysm, Autoimmunity, Micropenis, Chron... ORPHA:51
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune thrombocytopenia, Interstitial pneumonitis, Autoimmunity, Autoimmune hemolytic anemia,... OMIM:615952
Myeloproliferative disorder, Splenomegaly OMIM:254450
Rothmund-Thomson Syndrome, Type 2
Basal cell carcinoma, Squamous cell carcinoma, Small for gestational age, Osteosarcoma, Telangiec... OMIM:268400
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Fibroma, Shortened QT interval, Uterine leiomyoma, Hypercalciuria, Nephrolithi... ORPHA:99880
Paraneoplastic Pemphigus
Thymoma, Sarcoma, B-cell lymphoma ORPHA:63455
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Relapsing Polychondritis
Chondritis of pinna, Chondritis, Hematuria, Pericarditis, Scleritis, Large vessel vasculitis, Uve... ORPHA:728
Juvenile Xanthogranuloma
Iritis, Uveitis, Hyphema, Myeloproliferative disorder, Blepharitis ORPHA:158000
Dyskeratosis Congenita, Autosomal Dominant 1
Myelodysplasia, Interstitial pneumonitis, Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia,... OMIM:127550
Immunoglobulin A Vasculitis
Skin rash, Pustule, Hematuria, Gastrointestinal hemorrhage, Proteinuria, Orchitis, Glomerulopathy... ORPHA:761
Collagenoma, Familial Cutaneous
Atrial fibrillation, Tricuspid regurgitation, Congestive heart failure, Vasculitis, Right ventric... OMIM:115250
Parathyroid Carcinoma
Parathyroid carcinoma, Chondrocalcinosis, Fibroma, Shortened QT interval, Uterine leiomyoma, Weig... ORPHA:143
Systemic Capillary Leak Syndrome
Abnormal renal tubule morphology, Multiple myeloma, Arrhythmia, Pericarditis, Leukocytosis, Hypot... ORPHA:188
Subcorneal Pustular Dermatosis
Pustule, Multiple myeloma, Systemic lupus erythematosus, Autoimmunity, Rheumatoid arthritis ORPHA:48377
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Increased circulating IgA level, Thyroiditis, Uveitis, Punctate kera... OMIM:617388
Large Congenital Melanocytic Nevus
Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma, Neoplasm of the skin ORPHA:626
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Iridocyclitis, Autoimmune thrombocytopenia, Autoim... ORPHA:227982
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Interstitial pneumonitis, Autoimmune hemolytic anemia, Autoimmunity, Neutropen... ORPHA:231154
Mosaic Variegated Aneuploidy Syndrome
Myelodysplasia, Aortic regurgitation, Abnormal aortic morphology, Coarctation of aorta, Multicyst... ORPHA:1052
Goodpasture Syndrome
Pulmonary hemorrhage, Erythrocyte cylindruria, Cylindruria, Anti-myeloperoxidase antibody positiv... OMIM:233450
Immunodeficiency 14B, Autosomal Recessive
Inflammation of the large intestine, Monocytosis, Thrombocytosis, Leukocytosis, Decreased circula... OMIM:619281
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Osteosarcoma, Hi... OMIM:112250
Peripartum Cardiomyopathy
Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Obesity, Cardiogenic shock... ORPHA:563
Systemic Lupus Erythematosus, Susceptibility To, 6
Abnormal renal physiology, Abnormality of the kidney, Systemic lupus erythematosus, Pericarditis,... OMIM:609939
Blau Syndrome
Skin rash, Camptodactyly of finger, Iridocyclitis, Pericarditis, Large vessel vasculitis, Retrobu... ORPHA:90340
Tuberous Sclerosis 1
Shagreen patch, Chordoma, Cardiac rhabdomyoma, Gingival fibromatosis, Subungual fibromas, Dental ... OMIM:191100
Combined Immunodeficiency Due To Crac Channel Dysfunction
Amelogenesis imperfecta, Hemolytic anemia, Autoimmunity, Chronic otitis media, Pneumonia, Neoplas... ORPHA:169090
Lymphatic Filariasis
Epididymitis, Urethral obstruction, Hematuria, Lymphadenitis, Orchitis, Glomerulonephritis, Lymph... ORPHA:2035
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hashimoto thyroiditis, Cerebral vasculitis, Leukocytosis ORPHA:83601
Primary Myelofibrosis
Hemangioma, Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocyto... ORPHA:824
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Camptodactyly, Duplicated collecting system, Peripheral pulmonary artery stenosis, Ureteropelvic ... OMIM:280000
Insulin-Resistance Syndrome Type B
Skin rash, Multiple myeloma, Systemic lupus erythematosus, Nephritis, Autoimmunity, Abnormality o... ORPHA:2298
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta, Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Xeroderma Pigmentosum, Complementation Group E
Basal cell carcinoma, Conjunctivitis, Keratitis, Squamous cell carcinoma of the skin, Telangiecta... OMIM:278740
Immune-Mediated Necrotizing Myopathy
Skin rash, Palpitations, Neoplasm, Congestive heart failure, Autoimmune antibody positivity, Myoc... ORPHA:206569
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Pancytopenia, Acute myeloid leukemia, Hernia, Aplasti... OMIM:617052
Immunodeficiency 25
T lymphocytopenia, Recurrent pneumonia, Increased circulating IgM level, Increased circulating Ig... OMIM:610163
Neonatal Lupus Erythematosus
Skin rash, Heart block, Hemolytic anemia, Abnormal electrophysiology of sinoatrial node origin, A... ORPHA:398124
Tuberous Sclerosis Complex
Pancreatic endocrine tumor, Carcinoid tumor, Chronic kidney disease, Parathyroid adenoma, Renal i... ORPHA:805
Pericarditis, Acute kidney injury, Chronic kidney disease, Myocarditis, Pulmonary arterial hypert... ORPHA:801
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Anti-thyroid peroxidase antibody positivity, Antineutrophil antibody positivity, Autoimmunity, Th... ORPHA:228426
Down Syndrome
Acute megakaryocytic leukemia, Myeloproliferative disorder OMIM:190685
Glycogen Storage Disease Due To Acid Maltase Deficiency
Basilar artery calcification, Flexion contracture, Oligosacchariduria, Left ventricular outflow t... ORPHA:365
Thymic Tumor
Pericarditis, Autoimmunity, Neuroendocrine neoplasm, Neoplasm of the thymus, Cardiac arrest ORPHA:100100
Limited Cutaneous Systemic Sclerosis
Autoimmunity, Telangiectasia of the skin, Contractures involving the joints of the feet, Mucosal ... ORPHA:220402
Majeed Syndrome
Hypochromic microcytic anemia, Inflammatory abnormality of the skin, Pustule, Leukocytosis, Conge... ORPHA:77297
Mosaic Variegated Aneuploidy Syndrome 1
Nephroblastoma, Renal cyst, Rhabdomyosarcoma, Hypospadias, Leukemia, Micropenis OMIM:257300
Xeroderma Pigmentosum, Complementation Group C
Basal cell carcinoma, Cutaneous melanoma, Conjunctivitis, Keratitis, Squamous cell carcinoma of t... OMIM:278720
Refractory Celiac Disease
Iron deficiency anemia, Inflammatory abnormality of the skin, Microcytic anemia, Weight loss, Inc... ORPHA:398063
Multiple Endocrine Neoplasia Type 4
Adrenocortical adenoma, Insulinoma, Carcinoid tumor, Parathyroid adenoma, Neuroendocrine neoplasm... ORPHA:276152
Antisynthetase Syndrome
Skin rash, Aortic regurgitation, Autoimmunity, Telangiectasia of the skin, Neoplasm, Keratoconjun... ORPHA:81
Prolidase Deficiency
Recurrent pneumonia, Systemic lupus erythematosus, Increased circulating antibody level, Diffuse ... OMIM:170100
Diabetes Mellitus, Ketosis-Prone
Autoimmunity OMIM:612227
Mixed Connective Tissue Disease
Skin rash, Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Prolonged bleeding time, ... ORPHA:809
Glossopharyngeal Neuralgia
Autoimmunity, Weight loss, Vascular dilatation, Neoplasm, Jaw claudication, Schwannoma, Bradycard... ORPHA:221098
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Albuminuria, Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Pulmonary e... ORPHA:567546
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Abnormal dental enamel morphology, Gastrointestinal hemorrhage, Neutropenia... ORPHA:79430
Hughes-Stovin Syndrome
Pulmonary embolism, Pulmonary artery aneurysm, Pulmonary arterial hypertension, Vasculitis, Arter... ORPHA:228116
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Autoimmunity, Panniculitis, Pancytopenia, Anemia, Splenomegaly OMIM:618398
Febrile Infection-Related Epilepsy Syndrome
Autoimmunity, Sinusitis ORPHA:163703
Acquired Generalized Lipodystrophy
Autoimmunity, Panniculitis, Abnormal cardiovascular system physiology, Hypertension, Lymphoma, Ac... ORPHA:79086
Dubowitz Syndrome
Neuroblastoma, Lymphoma, Inguinal hernia, Aplastic anemia, Hypospadias, Acute lymphoblastic leuke... OMIM:223370
Lmna-Related Cardiocutaneous Progeria Syndrome
Basal cell carcinoma, Intracranial hemorrhage, Lipoatrophy, Papillary renal cell carcinoma, Aorti... ORPHA:363618
Myasthenia, Limb-Girdle, Autoimmune
Neoplasm, Thymoma, Systemic lupus erythematosus, Hashimoto thyroiditis OMIM:159400
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Autoimmunity, Abnormal left ventricular function, Coronary artery atheros... ORPHA:36913
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Basal cell carcinoma, Skin rash, Arteriosclerosis, Cachexia, Squamous cell carcinoma of the skin,... ORPHA:220295
Oligoarticular Juvenile Idiopathic Arthritis
Abnormal serum interleukin level, Increased serum interferon-gamma level, Autoimmunity, Rheumatoi... ORPHA:85410
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Interface hepatitis, Hematochezia, Autoimmune hemolytic anemia, Autoimmunity, ... OMIM:243150
Pediatric-Onset Graves Disease
Palpitations, Anti-thyroid peroxidase antibody positivity, Autoimmunity, Sinus tachycardia, Atria... ORPHA:525731
Down Syndrome
Renal hypoplasia/aplasia, Acute megakaryocytic leukemia, Umbilical hernia ORPHA:870
Nail-Patella Syndrome
Hematuria, Glomerulonephritis, Nephrotic syndrome, Renal insufficiency, Proteinuria OMIM:161200
Monosomy 22
Hypochromic microcytic anemia, Seborrheic dermatitis, Aplasia of the thymus, Meningioma, Gonadal ... ORPHA:96123
Dubowitz Syndrome
Abnormality of neutrophils, Lymphoma, Neoplasm, Thrombocytopenia, Hydronephrosis, Anemia, Hypospa... ORPHA:235
Cowden Syndrome 1
Subcutaneous lipoma, Carcinoma, Decreased circulating antibody level, Lymphopenia, Thyroiditis, M... OMIM:158350
Muir-Torre Syndrome
Laryngeal carcinoma, Basal cell carcinoma, Carcinoma, Sebaceous gland carcinoma, Adenoma sebaceum... OMIM:158320
Relapsing Fever
Hematuria, Acute kidney injury, Leukocytosis, Hypotension, Abnormality of the urinary system, Epi... ORPHA:91547
Myasthenia Gravis
Systemic lupus erythematosus, Pure red cell aplasia, Hemolytic anemia, Rheumatoid arthritis, Hash... ORPHA:589
Chime Syndrome
Acute leukemia, Hydronephrosis, Tetralogy of Fallot, Abnormality of the kidney, Transposition of ... ORPHA:3474
Erythrocytosis, Familial, 2
Hemangioma, Increased hematocrit, Hypotension, Increased hemoglobin, Increased red blood cell mas... OMIM:263400
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Systemic lupus erythematosus, Autoimmune thrombocytopenia, Tubulointerstitial ... OMIM:607944
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia OMIM:612376
Tempi Syndrome
Hemangioma, Increased hematocrit, Abnormality of the kidney, Intracranial hemorrhage, Polycythemi... ORPHA:284227
Testicular teratoma, Leukocytosis, Weight loss, Sudden cardiac death, Recurrent cutaneous abscess... ORPHA:764
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy
Abnormal penis morphology, Neoplasm of the thyroid gland, Neoplasm of the breast, Sarcoma, Testic... ORPHA:457059
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Decreased circulating antibody level, Atrophic scars, Scarring, Anemia, Squamo... ORPHA:79396
Niemann-Pick Disease Type B
Systemic lupus erythematosus, Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Neoplasm... ORPHA:77293
Multiple Endocrine Neoplasia Type 1
Pancreatic endocrine tumor, Insulinoma, Pituitary thyrotropic cell adenoma, Shortened QT interval... ORPHA:652
Systemic-Onset Juvenile Idiopathic Arthritis
Skin rash, Pericarditis, Autoimmunity, Juvenile rheumatoid arthritis, Anterior uveitis, Splenomegaly ORPHA:85414
Pulmonary Nodular Lymphoid Hyperplasia, Familial
Rheumatoid arthritis, Systemic lupus erythematosus, Antinuclear antibody positivity, IgA depositi... OMIM:178610
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Ellis Van Creveld Syndrome
Abnormality of the kidney, Hydroureter, Abnormality of the ureter, Hypospadias, Renal hypoplasia/... ORPHA:289
Keratosis, Familial Actinic
Neoplasm, Uterine neoplasm, Carcinoma OMIM:148390
Schinzel-Giedion Syndrome
Myeloid leukemia, Facial hemangioma, Sacrococcygeal teratoma, Camptodactyly, Teratoma, Umbilical ... ORPHA:798
Type 1 Diabetes Mellitus
Autoimmunity, Polyuria OMIM:222100
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Poland Syndrome
Renal hypoplasia, Retinal hamartoma, Duplicated collecting system, Absence of subcutaneous fat, N... ORPHA:2911
Hereditary Mixed Polyposis Syndrome
Rectal polyposis, Neoplasm of the gastrointestinal tract, Prostate cancer, Adenocarcinoma of the ... ORPHA:157794
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Von Hippel-Lindau Syndrome
Multiple renal cysts, Pulmonary capillary hemangiomatosis, Retinal capillary hemangioma, Pheochro... OMIM:193300
Sjogren Syndrome
Autoimmunity, Rheumatoid arthritis, Tubulointerstitial nephritis, Keratoconjunctivitis sicca OMIM:270150
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Skin rash, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Glomerular sclerosis, P... ORPHA:247691
Pemphigus Vulgaris
Autoimmunity, Atypical scarring of skin, Recurrent cutaneous abscess formation, Weight loss ORPHA:704
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Glomerular sclerosis, Renal salt wast... OMIM:174000
Primary Sclerosing Cholangitis
Polyclonal elevation of IgM, Thyroiditis, Weight loss, Palmar telangiectasia, Renal insufficiency... ORPHA:171
Porphyria Cutanea Tarda
Systemic lupus erythematosus, Cutaneous abscess, Viral hepatitis, Scarring, Hepatocellular carcin... ORPHA:101330
Cold Agglutinin Disease
Autoimmunity, Abnormal urinary color, Hemolytic anemia, Splenomegaly ORPHA:56425
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Lymphadenitis, Congenital thrombocytopenia, Hypertension, Cere... OMIM:618886
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Carcinoma, Renal angiomyolipoma, Carcinoid tumor, Hashimoto thyroidit... OMIM:610755
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Leukocytosis, Extramedullary hematopoiesis, Hepatocellular carcinoma... ORPHA:231222
Ehlers-Danlos Syndrome, Periodontal Type, 1
Autoimmunity, Atrophic scars, Inguinal hernia, Periodontitis OMIM:130080
Diffuse Cutaneous Systemic Sclerosis
Autoimmunity, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Oliguria, Con... ORPHA:220393
Late-Onset Isolated Acth Deficiency
Orthostatic hypotension, Autoimmunity, Hypotension, Hashimoto thyroiditis, Pituitary adenoma, Wei... ORPHA:199299
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Coarctation of aorta, Patent ductus arteriosus, Synovitis, Pulm... OMIM:163950
Nodular Non-Suppurative Panniculitis
Autoimmunity, Panniculitis, Weight loss, Splenomegaly, Inflammatory abnormality of the eye ORPHA:33577
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Dermatitis Herpetiformis
Autoimmunity, Eczema, Microcytic anemia ORPHA:1656
Immunoglobulin A Deficiency 1
Autoimmunity, Decreased circulating IgA level OMIM:137100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cellulitis, Panniculitis, Lymphoma, Erysipelas, Leukemia ORPHA:2526
Myasthenia Gravis
Autoimmunity, Thymoma OMIM:254200
Von Hippel-Lindau Disease
Palpitations, Pancreatic endocrine tumor, Multiple renal cysts, Arrhythmia, Retinal capillary hem... ORPHA:892
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Pulmonic stenosis, Patent ductus arteriosus, Hypertrophic cardi... OMIM:609942
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Autoimmunity, Camptodactyly, Hashimoto thyroiditis, Failure to thrive in infancy, Pancytopenia, H... OMIM:613385
Hyper-Igd Syndrome
Skin rash, Serositis, Chronic oral candidiasis, Leukocytosis, Increased circulating IgA level, Re... OMIM:260920
Bullous Pemphigoid
Autoimmunity, Eczema, Psoriasiform dermatitis, Weight loss ORPHA:703
Car T Cell Therapy-Associated Cytokine Release Syndrome
Skin rash, Reduced ejection fraction, Arrhythmia, Acute kidney injury, Increased serum interferon... ORPHA:542323
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Hemorrhagic Fever-Renal Syndrome
Abnormal renal tubule morphology, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhag... ORPHA:340
Xeroderma Pigmentosum, Complementation Group B
Neoplasm, Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma of the skin OMIM:610651
Squamous cell carcinoma of the skin ORPHA:79358
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Oculocutaneous Albinism Type 1B
Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma ORPHA:79434
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Mitral regurgitation, Juvenile myelomonocytic leukemia, Aortic valve stenosis OMIM:613563
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Erythema Elevatum Diutinum
Increased circulating antibody level, Vasculitis in the skin, Skin rash ORPHA:90000
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations
Hematuria, Punctate vasculitis skin lesions, Vasculitis in the skin, Retinal hemorrhage, Telangie... OMIM:192315
Sotos Syndrome
Patent ductus arteriosus, Neoplasm, Vesicoureteral reflux, Renal insufficiency, Ureteral duplicat... ORPHA:821
Dehydrated Hereditary Stomatocytosis
Nonspherocytic hemolytic anemia, Increased hemoglobin concentration, Hemolytic anemia, Increased ... ORPHA:3202
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Hypocalciuria, Autoimmunity, Chondrocalcinosis, Nephrolithiasis, Reduced ratio o... ORPHA:405
Addison Disease
Orthostatic hypotension, Autoimmunity, Thiamine-responsive megaloblastic anemia, Hypotension, Has... ORPHA:85138
Peritonitis, Acute colitis, Microangiopathic hemolytic anemia, Acute kidney injury, Splenic absce... ORPHA:810
Oncogenic Osteomalacia
Neoplasm of head and neck, Renal phosphate wasting, Neurofibromas, Hyperphosphaturia, Carcinoma, ... ORPHA:352540
Carney Complex