| Graying Of Hair, Precocious |
|
Premature graying of hair |
OMIM:139100 |
| Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Athrombia, Essential |
|
Abnormal bleeding, Impaired platelet aggregation, Impaired platelet adhesion, Prolonged bleeding ... |
OMIM:209050 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:173590 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Glanzmann Thrombasthenia 2 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619267 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Macrothrombocytopenia, Thromb... |
OMIM:124900 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Platelet Glycoprotein Iv Deficiency |
|
Abnormal bleeding, Thrombocytopenia, Giant platelets, Prolonged bleeding time |
OMIM:608404 |
| Glanzmann Thrombasthenia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:273800 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal bleeding, Abnormal platelet function, Anemia, Thrombo... |
ORPHA:231393 |
| Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia, Prolonged bleeding time |
OMIM:177820 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Petechiae, Abnormal bleeding, Impaired platelet aggregation, Macrothrombocytopenia, Giant platele... |
OMIM:187800 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts |
OMIM:618462 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Thrombocythemia 1 |
|
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... |
OMIM:187950 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Neurofibromatosis Type 6 |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Abnormal bleeding, Prolonged bleeding after den... |
OMIM:231200 |
| Platelet Disorder, Undefined |
|
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Thrombocytopenia |
OMIM:173420 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Impaired platelet aggregation, Epistaxis, Prolonged bleeding time |
OMIM:615888 |
| Dyschromatosis Universalis Hereditaria 1 |
|
Hyperpigmented/hypopigmented macules |
OMIM:127500 |
| Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
| Dowling-Degos Disease 3 |
|
Hyperpigmented/hypopigmented macules |
OMIM:615674 |
| Mediosternal Depigmentation Line |
|
Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
| Dyschromatosis Symmetrica Hereditaria |
|
Hyperpigmented/hypopigmented macules |
OMIM:127400 |
| +173470 integrin, beta-3 |
|
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Bruising suscepti... |
OMIM:173470 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Bruising suscepti... |
OMIM:155100 |
| Platelet Aggregation, Spontaneous |
|
Abnormal platelet function, Spontaneous platelet aggregation |
OMIM:173400 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, Prolonged bleeding ... |
OMIM:609821 |
| Diamond-Blackfan Anemia 17 |
|
Anemia, Hyperpigmentation of the skin |
OMIM:617409 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Dowling-Degos Disease 1 |
|
Progressive reticulate hyperpigmentation |
OMIM:179850 |
| Linear Atrophoderma Of Moulin |
|
Linear hyperpigmentation |
ORPHA:140933 |
| Neutrophil Immunodeficiency Syndrome |
|
Abnormality of neutrophil physiology, Leukocytosis |
ORPHA:183707 |
| Von Willebrand Disease, Type 3 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Abnormal bleeding, M... |
OMIM:277480 |
| Acroleukopathy, Symmetric |
|
Symmetric great toe depigmentation |
OMIM:102000 |
| Hyperpigmentation Of Fuldauer And Kuijpers |
|
Hyperpigmentation of the skin |
OMIM:145200 |
| Hyperpigmentation, Familial Progressive, 1 |
|
Hyperpigmentation of the skin |
OMIM:614233 |
| Nasal Hyperpigmentation, Familial Transverse |
|
Hyperpigmentation of the skin |
OMIM:161530 |
| Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
| Griscelli Syndrome, Type 1 |
|
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... |
OMIM:214450 |
| Dyschromatosis Universalis Hereditaria |
|
Hypermelanotic macule, Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigme... |
ORPHA:241 |
| Griscelli Syndrome Type 3 |
|
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation, Epistaxis, Ecchymosis, Bruising sus... |
OMIM:614009 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Abnormal dense granule content, Bruising susceptibility, Acute monocytic leukemia, Impaired plate... |
OMIM:601399 |
| Gray Platelet Syndrome |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Splenomegaly, Abnormal b... |
OMIM:139090 |
| Specific Granule Deficiency 1 |
|
Absent neutrophil lactoferrin, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bacteri... |
OMIM:245480 |
| Agammaglobulinemia 3, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent bronchitis, Recurrent o... |
OMIM:613501 |
| Lymphoproliferative Syndrome, X-Linked, 1 |
|
Recurrent fever, Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, S... |
OMIM:308240 |
| Tietz Syndrome |
|
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... |
ORPHA:42665 |
| Immunodeficiency 69 |
|
Increased circulating ferritin concentration, Failure to thrive, Fever, Leukocytosis, Splenomegal... |
OMIM:618963 |
| Quebec Platelet Disorder |
|
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Bruising susceptibility, Men... |
OMIM:601709 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... |
OMIM:187900 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
| Storage Pool Platelet Disease |
|
Abnormal bleeding, Acute leukemia, Decreased mean platelet volume, Prolonged bleeding time |
OMIM:185050 |
| Uncombable Hair Syndrome |
|
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair |
ORPHA:1410 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Dilution, Pigmentary |
|
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair |
OMIM:126070 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Glanzmann Thrombasthenia |
|
Impaired ristocetin-induced platelet aggregation, Prolonged bleeding following circumcision, Brui... |
ORPHA:849 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... |
OMIM:613101 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Increased circulating antibody level, Failure to thrive, Splenomegaly, Extramedullary hematopoies... |
OMIM:615285 |
| Von Willebrand Disease, X-Linked Form |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:314560 |
| Waardenburg Syndrome, Type 2B |
|
White forelock, Premature graying of hair, Heterochromia iridis |
OMIM:600193 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... |
OMIM:300635 |
| Slc35A1-Cdg |
|
Subcutaneous hemorrhage, Abnormal bleeding, Pulmonary hemorrhage, Giant platelets, Neutropenia, T... |
ORPHA:238459 |
| Agammaglobulinemia 7, Autosomal Recessive |
|
Agammaglobulinemia, Recurrent infections, Recurrent respiratory infections, Neutropenia |
OMIM:615214 |
| Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Failure to thrive, Elevated... |
OMIM:616050 |
| Hermansky-Pudlak Syndrome 3 |
|
Bruising susceptibility, Abnormal bleeding, Abnormal number of dense granules, Gingival bleeding,... |
OMIM:614072 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia |
OMIM:617443 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Partial albinism, Hypopigmentation of hair, Neutropenia |
ORPHA:90023 |
| Immunodeficiency 50 |
|
Lymphopenia, Recurrent urinary tract infections, Decreased circulating antibody level, Neutropeni... |
OMIM:300988 |
| Hemophagocytic Lymphohistiocytosis, Familial, 3 |
|
Fever, Granulocytopenia, Hemophagocytosis, Hepatosplenomegaly, Reduced natural killer cell activi... |
OMIM:608898 |
| Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Petechiae, Bruising susceptibility, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytop... |
OMIM:314050 |
| Pseudopili Annulati |
|
Abnormality of hair texture, Abnormality of the scalp hair |
OMIM:613241 |
| Transcobalamin Deficiency |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
ORPHA:859 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time |
OMIM:188025 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Recurrent protozoan infections, Recurrent infection of the gastrointestinal tract, Panhypogammagl... |
ORPHA:572 |
| Pili Bifurcati |
|
Abnormality of hair texture, Abnormal hair morphology |
ORPHA:720 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Joint hemorrhage, Intestinal bleeding, Bruising susceptibility, Menorrhagia, Impaired platelet ag... |
OMIM:605735 |
| Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Increased circulating antibody level, Lymphocytosis, Splenomegaly, Monocytosis, Autoimmune thromb... |
OMIM:614470 |
| Fechtner syndrome |
|
Neutrophil inclusion bodies, Bruising susceptibility, Abnormal bleeding, Menorrhagia, Leukocyte i... |
OMIM:153640 |
| Immunodeficiency 24 |
|
Defective T cell proliferation, Decreased circulating IgG level, Lymphopenia, Decreased specific ... |
OMIM:615897 |
| Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin, Decreased circulating total IgM, Neutropenia |
OMIM:610798 |
| Tatsumi Factor Deficiency |
|
Abnormal bleeding, Prolonged bleeding time |
OMIM:272650 |
| Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
|
Hyperpigmentation of the skin |
OMIM:202355 |
| Immunodeficiency 105 |
|
Decreased circulating IgA level, Fever, Lymphopenia, Decreased circulating IgG level, Decreased c... |
OMIM:619924 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches |
ORPHA:2435 |
| Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Recurrent fever, Decreased circulating IgG level, E... |
OMIM:613011 |
| Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
| Immunodeficiency 46 |
|
Failure to thrive, Chronic oral candidiasis, Sepsis, Meningitis, Decreased circulating antibody l... |
OMIM:616740 |
| Griscelli Syndrome, Type 2 |
|
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... |
OMIM:607624 |
| Hermansky-Pudlak Syndrome 9 |
|
Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
| Thrombocytopenic Purpura, Autoimmune |
|
Abnormal bleeding, Thrombocytopenia |
OMIM:188030 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Progressive hyperpigmentation, Multiple lentigines, Vitiligo, Cafe-au-lait... |
OMIM:145250 |
| Leishmaniasis |
|
Recurrent fever, Increased circulating antibody level, Splenomegaly, Leukopenia, Abnormal macroph... |
ORPHA:507 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Abnormal megakaryocyte morphology, Hyposegmentation of neutrophi... |
ORPHA:75564 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... |
OMIM:619947 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Lymphoproliferative Syndrome 2 |
|
EBV meningitis, Decreased lymphocyte proliferation in response to mitogen, Fever, Hemophagocytosi... |
OMIM:615122 |
| Immunodeficiency 18 |
|
Recurrent gastroenteritis, Defective T cell proliferation, Lymphopenia, Recurrent otitis media, D... |
OMIM:615615 |
| Dowling-Degos Disease 2 |
|
Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Splenomegaly, Abnormal platelet function, Abno... |
ORPHA:2585 |
| Adult Idiopathic Neutropenia |
|
Bone marrow hypercellularity, Fever, Recurrent fungal infections, Lymphopenia, Abnormality of bon... |
ORPHA:2688 |
| Whim Syndrome 1 |
|
Bone marrow hypercellularity, Abnormality of bone marrow cell morphology, Decreased circulating I... |
OMIM:193670 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Decreased helper T cell proportion, Pancytopenia, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
| Myh9-Related Disease |
|
Neutrophil inclusion bodies, Bruising susceptibility, Menorrhagia, Congenital thrombocytopenia, I... |
ORPHA:182050 |
| Von Willebrand Disease, Type 1 |
|
Joint hemorrhage, Persistent bleeding after trauma, Bruising susceptibility, Prolonged bleeding a... |
OMIM:193400 |
| Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Recurrent fungal infections, Decreased circul... |
OMIM:300400 |
| Immunodeficiency, Common Variable, 13 |
|
Recurrent bacterial infections, B lymphocytopenia, Decreased circulating antibody level, Pancytop... |
OMIM:616873 |
| Neutropenia, Chronic Familial |
|
Increased circulating antibody level, Neutropenia |
OMIM:162700 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
OMIM:606952 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Recurrent viral infections, Increased circulating antibody level, Fever, Increased circulating Ig... |
ORPHA:169154 |
| Hermansky-Pudlak Syndrome 7 |
|
Abnormal bleeding, Impaired platelet aggregation, Epistaxis, Bruising susceptibility |
OMIM:614076 |
| Hermansky-Pudlak Syndrome 5 |
|
Bruising susceptibility, Menorrhagia, Impaired ADP-induced platelet aggregation, Absent platelet ... |
OMIM:614074 |
| Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia |
|
Megaloblastic anemia, Anemia of inadequate production, Lymphopenia, Macrocytic anemia, Thrombocyt... |
OMIM:617780 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportion of CD8... |
OMIM:614493 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Increased circulating antibody level, Acute monocytic leukemia, Eosinophilia, Monocytosis, Congen... |
OMIM:202700 |
| Agammaglobulinemia 4, Autosomal Recessive |
|
Decreased circulating IgA level, Recurrent otitis media, Decreased circulating IgG level, Decreas... |
OMIM:613502 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Neutrophilia, Leukocytosis, Can... |
OMIM:619281 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Albinism, Patchy hypo- and hyperpigmentation, Piebaldism |
OMIM:300700 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Recurrent fever, Increased circulating antibody level, Elevated circulating C-reactive protein co... |
OMIM:615559 |
| Neutropenia, Severe Congenital, 6, Autosomal Recessive |
|
Failure to thrive, Neutropenia, Recurrent bacterial infections, Recurrent otitis media, Recurrent... |
OMIM:616022 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Agammaglobulinemia 10, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:619707 |
| Hermansky-Pudlak Syndrome 6 |
|
Bruising susceptibility, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis... |
OMIM:614075 |
| Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent otitis media, Partial absen... |
OMIM:618986 |
| Immunodeficiency 20 |
|
Recurrent oral herpes, Severe varicella zoster infection, Reduced natural killer cell activity, R... |
OMIM:615707 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Essential Thrombocythemia |
|
Splenomegaly, Abnormal platelet morphology, Abnormality of thrombocytes, Acute leukemia, Prolonge... |
ORPHA:3318 |
| Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Hemophagocytosis, Splenomeg... |
OMIM:603552 |
| Immunodeficiency 81 |
|
Impaired collagen-induced platelet aggregation, Petechiae, Abnormally low T cell receptor excisio... |
OMIM:619374 |
| Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Fever, Neutropenia, Elevated circulating C-reactive... |
ORPHA:158057 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
| Ermine Phenotype |
|
Spotty hyperpigmentation, Albinism, White eyelashes, Vitiligo, White eyebrow, White hair |
OMIM:227010 |
| Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Petechiae, Hematemesis, Bruising susceptibility... |
ORPHA:274 |
| Transcobalamin Ii Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Neutropenia, Decreased circulating IgG level,... |
OMIM:275350 |
| Albinism-Deafness Syndrome |
|
Heterochromia iridis, Irregular hyperpigmentation, Partial albinism, Piebaldism, Hypopigmented sk... |
ORPHA:998 |
| Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
| Cernunnos-Xlf Deficiency |
|
Lymphopenia, Recurrent bacterial infections, B lymphocytopenia, T lymphocytopenia, Decreased circ... |
ORPHA:169079 |
| Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hyperpigmentation of the skin, Hypopigmented skin patches |
ORPHA:2819 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Increased circulating ferritin concentration, Recurrent fever, Fever, Failure to thrive, Coma, He... |
OMIM:603553 |
| Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis |
OMIM:615193 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Bruising susceptibility, Menorrhagia, Ecchymosis, Epistaxis, Prolonged bleeding time |
OMIM:614201 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Megakaryocyte dysplasia, Pancytopenia, Bone marro... |
OMIM:619041 |
| Acute Erythroid Leukemia |
|
Bone marrow hypercellularity, Leukopenia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocel... |
ORPHA:318 |
| Amegakaryocytic Thrombocytopenia, Congenital |
|
Megakaryocytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
| Hemophagocytic Syndrome Associated With An Infection |
|
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal cytokine signaling, Seve... |
ORPHA:158048 |
| Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia, Bruising susceptibility |
OMIM:614200 |
| Malaria |
|
Fever, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Reduced conscio... |
ORPHA:673 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia, Hyperpigmented streaks |
OMIM:614323 |
| Whim Syndrome 2 |
|
Myelokathexis, Severe infection, Chronic neutropenia, Recurrent gingivitis |
OMIM:619407 |
| Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Abnormal bleeding, Thrombocytopenia, Neutropenia |
OMIM:188020 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased circulating IgA level, Fever, Decreased circulating IgG level, Splenomegaly, Decreased ... |
OMIM:618394 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
| Bleeding Disorder, Platelet-Type, 14 |
|
Epistaxis, Ecchymosis, Bruising susceptibility, Prolonged bleeding time |
OMIM:614158 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Diamond-Blackfan Anemia 18 |
|
Steroid-responsive anemia, Granulocytic hypoplasia, Neutropenia, Erythroid hypoplasia |
OMIM:618310 |
| T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations |
|
Recurrent fungal infections, Lymphopenia, Recurrent bacterial infections, Neutropenia, Recurrent ... |
OMIM:614868 |
| Giant platelet syndrome with thrombocytopenia |
|
Bruising susceptibility, Prolonged bleeding after dental extraction, Giant platelets, Gastrointes... |
OMIM:137560 |
| Hermansky-Pudlak Syndrome 11 |
|
Impaired collagen-induced platelet aggregation, Bruising susceptibility, Reduced platelet dense g... |
OMIM:619172 |
| Blue Rubber Bleb Nevus |
|
Microcytic anemia, Intestinal bleeding, Prolonged bleeding time |
ORPHA:1059 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Reticular Dysgenesis |
|
Failure to thrive, Fever, Leukopenia, Sepsis, Abnormality of neutrophils, Weight loss, Decreased ... |
ORPHA:33355 |
| Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Recurrent oral herpes, Fluctuating splenome... |
OMIM:619220 |
| Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
| Drug-Induced Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90157 |
| Factor V Deficiency |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Epistaxis, Prolonged prothrombin time, P... |
OMIM:227400 |
| Isovaleric Acidemia |
|
Coma, Leukopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Lethargy |
OMIM:243500 |
| Cyclic Neutropenia |
|
Cyclic neutropenia, Fever, Neutropenia |
OMIM:162800 |
| Maternal Uniparental Disomy Of Chromosome 1 |
|
Pancytopenia, Failure to thrive, Recurrent infections, Panhypogammaglobulinemia |
ORPHA:251009 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:540 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Recurrent protozoan infections, Failure to thrive, Recurrent fungal infections, Recurrent viral i... |
OMIM:209920 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elevated circulating C-reactive protein concentration, Sterile abscess, Hepatosplenomegaly, Throm... |
OMIM:604416 |
| Immunodeficiency 102 |
|
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Sepsis, B lym... |
OMIM:301082 |
| Sitosterolemia 1 |
|
Episodic hemolytic anemia, Splenomegaly, Abnormal bleeding, Reticulocytosis, Impaired platelet ag... |
OMIM:210250 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
| Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:613265 |
| Congenital Enterovirus Infection |
|
Hypothermia, Fever, Leukocytosis, Hyperammonemia, Leukopenia, Sepsis, Abnormal macrophage morphol... |
ORPHA:292 |
| Hereditary Folate Malabsorption |
|
Megaloblastic anemia, Failure to thrive, Eosinophilia, Recurrent urinary tract infections, Decrea... |
ORPHA:90045 |
| Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
| Aregenerative Anemia |
|
Abnormality of interleukin secretion, Fever, Abnormal proportion of CD8-positive T cells, Neutrop... |
ORPHA:101096 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent gastroenteritis, Abnormal serum interferon-gamma level, Recurrent enteroviral infection... |
ORPHA:79124 |
| Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency |
|
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... |
ORPHA:70592 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Abnormal B cell count, Recurrent viral infections, Abnormal T cell count, Decreased circulating I... |
ORPHA:331206 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, N... |
OMIM:251110 |
| Fanconi Anemia, Complementation Group T |
|
Bone marrow hypocellularity, Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
| T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Increased circulating ferritin concentration, Fever, Hemophagocytosis, Splenomegaly, Hypertriglyc... |
OMIM:618398 |
| Tietz Albinism-Deafness Syndrome |
|
White eyebrow, White eyelashes, Blue irides, Generalized hypopigmentation |
OMIM:103500 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Impaired memory B cell generation, Sepsis, Decreased circulating IgE, Decreased circulating IgA l... |
OMIM:308230 |
| Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Fever, Abnormality of bone marrow cell morphology, Splenome... |
ORPHA:100024 |
| Thrombocytopenia 2 |
|
Increased megakaryocyte colony forming unit count, Thrombocytopenia, Leukocytosis |
OMIM:188000 |
| Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Fever, Increased circulating IgA level, Elevated circulating C-reactive protei... |
OMIM:618048 |
| Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Recurrent infections, Neutropenia, Thrombocytopenia, Folate-respon... |
OMIM:229050 |
| Immunodeficiency 21 |
|
Recurrent fungal infections, Lymphopenia, Abnormal natural killer cell morphology, Aplastic anemi... |
OMIM:614172 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Pili canaliculi |
OMIM:617252 |
| Autoinflammatory-Pancytopenia Syndrome |
|
Recurrent fever, Failure to thrive, Fever, Hemophagocytosis, Hepatosplenomegaly, Severe Epstein B... |
OMIM:619858 |
| Primary Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Fever, Abnormality of bone marro... |
ORPHA:824 |
| Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
| Immunodeficiency 27A |
|
Histiocytosis, Fever, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Increased circulating IgG l... |
OMIM:209950 |
| Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Hemophagocytosis, Decreased proportion of CD4+CD25+... |
OMIM:619802 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Recurrent infections, Neutropenia |
OMIM:617014 |
| Immunodeficiency 98 With Autoinflammation, X-Linked |
|
Recurrent otitis media, Decreased circulating IgG level, Myelofibrosis, Hemophagocytosis, Splenom... |
OMIM:301078 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Coma, Hyperammonemia, Anemia, Lethargy |
ORPHA:28 |
| Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocytopenia |
OMIM:617243 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Methylmalonic acidemia, N... |
OMIM:251100 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Failure to thrive, Decreased circulating IgA level, Recurrent otitis media, Decreased circulating... |
OMIM:614700 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Coma, Hyperammonemia, Sepsis, Neutropenia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:289916 |
| Congenital Factor Ii Deficiency |
|
Joint hemorrhage, Prolonged bleeding following circumcision, Abnormal umbilical stump bleeding, P... |
ORPHA:325 |
| Methylcobalamin Deficiency Type Cble |
|
Increased mean corpuscular volume, Failure to thrive, Neutropenia, Hypomethioninemia, Macrocytic ... |
ORPHA:2169 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Fever, Hypocalcemia, Sepsis, Meningitis, Weight loss, Recurrent pneumonia, Neu... |
ORPHA:47 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Leukocytosis, Splenomegaly, Bruising susceptibility, Myeloproliferative disorder, Intracranial he... |
ORPHA:3226 |
| Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Coma, Hyperammonemia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Let... |
ORPHA:79312 |
| Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency |
|
Decreased circulating IgG level, Hypoalbuminemia, Hypoproteinemia, Neutropenia |
OMIM:600351 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation |
OMIM:300719 |
| Prothrombin Deficiency, Congenital |
|
Joint hemorrhage, Bruising susceptibility, Menorrhagia, Gingival bleeding, Ecchymosis, Gastrointe... |
OMIM:613679 |
| Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:2513 |
| Primary Erythromelalgia |
|
Hypothermia, Leukemia, Abnormality of thrombocytes, Recurrent respiratory infections |
ORPHA:90026 |
| Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Iris transillumination defect |
OMIM:619165 |
| Propionic Acidemia |
|
Failure to thrive, Coma, Hyperammonemia, Pancytopenia, Hyperglycinemia, Neutropenia, Anemia, Thro... |
OMIM:606054 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Decreased specific anti-polysaccharide antibody level, Failure to thrive, Splenomegaly, Impaired ... |
OMIM:614576 |
| Bone Marrow Failure Syndrome 1 |
|
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia |
OMIM:614675 |
| Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive |
|
Increased circulating interleukin 6 concentration, Decreased circulating IgG level, Inappropriate... |
OMIM:618944 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
ORPHA:2643 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Mixed hypo- and hyperpigmentation of the skin, Hypermelanotic macule, Mottled pigmentation, Spott... |
ORPHA:79397 |
| Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
| Hermansky-Pudlak Syndrome 8 |
|
Bruising susceptibility, Abnormal bleeding, Menorrhagia, Gingival bleeding, Impaired platelet agg... |
OMIM:614077 |
| Riboflavin Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Lethargy |
OMIM:615026 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Neutropenia in pres... |
OMIM:613179 |
| Hermansky-Pudlak Syndrome 2 |
|
Enlarged platelet dense granules, Ocular albinism, Fair hair, Generalized hypopigmentation, Splen... |
OMIM:608233 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Megaloblastic anemia, Failure to thrive, Hyperhomocystinemia, Pancytopenia, Cystathioninemia, Met... |
OMIM:277380 |
| Refractory Anemia With Excess Blasts |
|
Anemia of inadequate production, Dysplastic granulopoesis, Fever, Abnormality of bone marrow cell... |
ORPHA:86839 |
| Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impaired T cell function, Leukope... |
OMIM:267500 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Idiopathic Aplastic Anemia |
|
Pancytopenia, Recurrent infections, Neutropenia, Bone marrow hypocellularity, Anemia, Thrombocyto... |
ORPHA:88 |
| Griscelli Syndrome Type 2 |
|
Fever, Hyperlipidemia, Neutropenia, Hemophagocytosis, Splenomegaly, Pancytopenia |
ORPHA:79477 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
| Mantle Cell Lymphoma |
|
Fever, Weight loss, Abnormality of bone marrow cell morphology, Splenomegaly |
ORPHA:52416 |
| Waardenburg Syndrome, Type 2A |
|
Numerous pigmented freckles, Partial albinism, White eyebrow, Albinism, White eyelashes, Synophry... |
OMIM:193510 |
| Immunodeficiency 16 |
|
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly |
OMIM:615593 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Mixed hypo- and hyperpigmentation of the skin, Spotty hyperpigmentation, Hypermelanotic macule, S... |
ORPHA:79399 |
| X-Linked Lymphoproliferative Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Aplastic anemia, B lymphocytopeni... |
ORPHA:2442 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Hype... |
OMIM:614857 |
| Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation |
OMIM:106750 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Neutrophilia, Leukocytosis, Abnormally low T cell receptor excision circle level, Impaired neutro... |
OMIM:608203 |
| Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Abnormality of tumor necrosis factor secretion, Inc... |
ORPHA:158061 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Lack of T cell function, Failure to thrive, Lymphopenia, Recurrent upper respiratory tract infect... |
ORPHA:277 |
| Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Megaloblastic anemia, Failure to thrive, Hypomethioninemia, Hyperhomocystinemia, Lethargy |
OMIM:236270 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... |
OMIM:251190 |
| Bone Marrow Failure Syndrome 4 |
|
Leukopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Anemia, Thrombocyt... |
OMIM:618116 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Lymphopenia, Abnormally low T cell receptor excision circle level, Decreased circulating antibody... |
OMIM:619767 |
| Hermansky-Pudlak Syndrome 1 |
|
Ocular albinism, Bruising susceptibility, Hypopigmentation of the skin, Hypopigmentation of hair,... |
OMIM:203300 |
| Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Lymphopenia, Increased serum iron, Neutropenia, Ane... |
OMIM:604250 |
| Chronic Intestinal Pseudoobstruction |
|
Abnormal platelet morphology |
ORPHA:2978 |
| Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Coombs-positive hemolytic anemia,... |
OMIM:617514 |
| Acute Panmyelosis With Myelofibrosis |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Lymphocytosis, Myelofibrosis, Ac... |
ORPHA:86843 |
| Caspase 8 Deficiency |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Recurrent si... |
OMIM:607271 |
| Trimethylaminuria |
|
Anemia, Neutropenia, Recurrent pneumonia, Splenomegaly |
OMIM:602079 |
| Schimke Immunoosseous Dysplasia |
|
Fever, Neutropenia, Lymphopenia, Small for gestational age, Thrombocytopenia, Abnormal immunoglob... |
OMIM:242900 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Recurrent fever, Chronic oral candidiasis, Splenomegaly, Abscess, B lymphocytopenia, Intermittent... |
OMIM:150550 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Failure to thrive, Recurrent otitis media, Recurrent bacterial infections, B lymphocytopenia, Pan... |
OMIM:601495 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Hypermelanotic macule |
OMIM:154800 |
| Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Coma, Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Lethargy |
ORPHA:27 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Hypothermia, Small for gestational age, Elevated circulating creatine kinase concentration, Throm... |
OMIM:618775 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Hypopigmentation of the skin |
OMIM:617294 |
| Meningococcal Meningitis |
|
Hypothermia, Fever, Elevated circulating C-reactive protein concentration, Sepsis, Drowsiness, In... |
ORPHA:33475 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Generalized hyperpigmentation, Hypopigmentation of hair |
ORPHA:1355 |
| Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant |
|
Decreased circulating IgA level, Decreased circulating IgG level, Lymphopenia, Decreased circulat... |
OMIM:619752 |
| Hemophilia B |
|
Joint hemorrhage, Delayed onset bleeding, Prolonged bleeding after dental extraction, Intracrania... |
ORPHA:98879 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Fever, Lymphopenia, Recurrent infection of the gastrointestinal tract, Recurrent sinopulmonary in... |
ORPHA:486 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Subcutaneous hemorrhage, Pulmonary hemorrhage, Macrothrombocytopenia, Neutropenia, Thrombocytopen... |
OMIM:603585 |
| Aggressive Systemic Mastocytosis |
|
Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
| Acute Promyelocytic Leukemia |
|
Bone marrow hypercellularity, Fever, Leukocytosis, Chronic infection, Leukopenia, Pancytopenia, W... |
ORPHA:520 |
| Specific Granule Deficiency 2 |
|
Failure to thrive, Recurrent otitis media, Bone marrow maturation arrest, Sepsis, Recurrent bacte... |
OMIM:617475 |
| Immunodeficiency 91 And Hyperinflammation |
|
Recurrent fever, Persistent fever, Failure to thrive, Elevated circulating C-reactive protein con... |
OMIM:619644 |
| Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed area... |
OMIM:203200 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Fever, Sepsis, Meningitis, Recurrent infections, Neutropenia, Agammaglobulinem... |
ORPHA:33110 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Recurrent protozoan infections, Recurrent bacterial infections, Abnormality of T cell physiology,... |
OMIM:308220 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... |
ORPHA:895 |
| Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Thrombocytopenia, Elevated circulating creatine kinase concentration, Unexplai... |
OMIM:614727 |
| Piebald Trait |
|
Piebaldism, Absent pigmentation of the ventral chest, Partial albinism, Heterochromia iridis, Whi... |
OMIM:172800 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Leukemia |
OMIM:614743 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neu... |
OMIM:251000 |
| Idiopathic Congenital Hypothyroidism |
|
Neonatal hyperbilirubinemia, Hypothermia, Lethargy |
ORPHA:95717 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Failure to thrive, Megaloblastic bone marrow, Lethargy |
ORPHA:79283 |
| Shwachman-Diamond Syndrome |
|
Sepsis, Aplastic anemia, Macrocytic anemia, Pancytopenia, Bone marrow hypocellularity, Recurrent ... |
ORPHA:811 |
| Imerslund-Gräsbeck Syndrome |
|
Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
| N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Increased level of L-glutamic acid in blood, ... |
OMIM:237310 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair |
ORPHA:2786 |
| Oculocutaneous Albinism Type 3 |
|
Blue irides, Hypopigmentation of the skin, Iris hypopigmentation, White eyebrow, White eyelashes,... |
ORPHA:79433 |
| Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia |
OMIM:194350 |
| Chédiak-Higashi Syndrome |
|
Increased circulating ferritin concentration, Hemophagocytosis, Increased proportion of CD25+ mas... |
ORPHA:167 |
| Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hypothermia, Failure to thrive, Hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Thrombocytopenia |
OMIM:251880 |
| Gaucher Disease, Type Iii |
|
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
| Aplasia Cutis Congenita |
|
Prolonged bleeding time |
ORPHA:1114 |
| Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
| Dengue Fever |
|
Fever, Hypoproteinemia, Leukopenia, Thrombocytopenia, Lethargy |
ORPHA:99828 |
| Omenn Syndrome |
|
Failure to thrive, Recurrent fungal infections, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypo... |
OMIM:603554 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Recurrent sinopulmonary infections, Recurrent sinusitis, Decreased circulating antibody level, Re... |
OMIM:616576 |
| Central Diabetes Insipidus |
|
Failure to thrive, Fever, Hyponatremia, Excessive daytime somnolence, Weight loss, Lethargy |
ORPHA:178029 |
| Staphylococcal Necrotizing Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Severe ... |
ORPHA:36238 |
| Pulmonary Blastoma |
|
Fever, Weight loss, Recurrent pneumonia |
ORPHA:64741 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Accumulation of melanos... |
OMIM:256710 |
| Pgm3-Cdg |
|
Abnormal proportion of CD8-positive T cells, Sepsis, Bone marrow hypocellularity, Recurrent viral... |
ORPHA:443811 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
| Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
| Bleeding Disorder, Platelet-Type, 20 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:616913 |
| Von Willebrand Disease, Type 2 |
|
Epistaxis, Thrombocytopenia, Menorrhagia, Bruising susceptibility |
OMIM:613554 |
| Ebola Hemorrhagic Fever |
|
Increased circulating antibody level, Fever, Lymphopenia, Leukopenia, Sepsis, Thrombocytopenia, L... |
ORPHA:319218 |
| Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
| Thrombotic Thrombocytopenic Purpura |
|
Fever, Coma, Decreased serum creatinine, Confusion, Microangiopathic hemolytic anemia, Reticulocy... |
ORPHA:54057 |
| Homocystinuria Without Methylmalonic Aciduria |
|
Failure to thrive, Megaloblastic bone marrow, Lethargy |
ORPHA:622 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Homocarnosinosis |
|
Abnormality of retinal pigmentation, Abnormality of skin pigmentation |
OMIM:236130 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Impaired platelet aggregation, Iron deficiency anemia |
OMIM:618372 |
| Idiopathic Achalasia |
|
Weight loss, Decreased prealbumin level |
ORPHA:930 |
| Holocarboxylase Synthetase Deficiency |
|
Coma, Hyperammonemia, Weight loss, Thrombocytopenia, Lethargy |
ORPHA:79242 |
| Combined Oxidative Phosphorylation Deficiency 34 |
|
Failure to thrive, Pancytopenia |
OMIM:617872 |
| Neurofibromatosis-Noonan Syndrome |
|
Multiple cafe-au-lait spots, Cryptorchidism, Prolonged bleeding time |
ORPHA:638 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyel... |
ORPHA:2885 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Failure to thrive, Coombs-positive hemolytic anemia, Severe infection, Eosinophilia, Autoimmune t... |
OMIM:304790 |
| Spherocytosis, Type 5 |
|
Spherocytosis, Abnormal leukocyte count, Splenomegaly, Hemolytic anemia, Abnormal platelet count,... |
OMIM:612690 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Recurrent fever, Recurrent otitis media, Fever, Lymphopenia, Elevated circulating C-reactive prot... |
OMIM:615688 |
| Chloramphenicol Toxicity |
|
Aplastic anemia |
OMIM:515000 |
| Immunodeficiency 93 And Hypertrophic Cardiomyopathy |
|
Decreased circulating IgG level, Decreased circulating total IgM, B lymphocytopenia, Decreased pr... |
OMIM:619705 |
| Wiskott-Aldrich Syndrome, Autosomal Dominant |
|
Decreased specific anti-polysaccharide antibody level, Lymphopenia, Increased circulating IgA lev... |
OMIM:600903 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Wolfram Syndrome 2 |
|
Abnormal bleeding, Impaired collagen-induced platelet aggregation, Decreased circulating antibody... |
OMIM:604928 |
| Woolly Hair, Autosomal Dominant |
|
Woolly hair, Coarse hair, Dry hair, Slow-growing hair, Abnormal hair morphology |
OMIM:194300 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Failure to thrive, Recurrent bacterial infections, Absent circulating B cells, Agammaglobulinemia... |
OMIM:619693 |
| Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation |
OMIM:188150 |
| Immunodeficiency 67 |
|
Recurrent streptococcal infections, Recurrent staphylococcal infections, Increased circulating Ig... |
OMIM:607676 |
| Necrotizing Enterocolitis |
|
Leukocytosis, Small for gestational age, Hyponatremia, Neutropenia, Lethargy, Thrombocytopenia, N... |
ORPHA:391673 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Microcytic anemia, Elevated circulating creatine kinase concentration, Neutropenia |
OMIM:251900 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Loss of consciousness, Small for gestational age, Increased C-peptide level, Large for gestationa... |
ORPHA:324575 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... |
ORPHA:276556 |
| Aicardi-Goutieres Syndrome 4 |
|
Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Decreased mean corpuscular volume, Failure to thrive, Hypokalemia, Hepatosplenomegaly, Hemolytic ... |
OMIM:611590 |
| Thymoma |
|
Fever, Abnormal lymphocyte physiology, Aplastic anemia, Decreased circulating antibody level, Abn... |
ORPHA:99867 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Hypothermia, Fever, Coma, Leukocytosis, Hyperammonemia, Leukopenia, Thrombocytosis, Hypoglycemic ... |
ORPHA:20 |
| Methylmalonic Acidemia With Homocystinuria |
|
Failure to thrive, Megaloblastic bone marrow, Lethargy |
ORPHA:26 |
| Felty Syndrome |
|
Splenomegaly, Sepsis, Recurrent urinary tract infections, Abnormal lymphocyte morphology, Weight ... |
ORPHA:47612 |
| Hemochromatosis, Type 2A |
|
Increased circulating ferritin concentration, Lethargy, Increased serum iron, Splenomegaly |
OMIM:602390 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Brain abscess, Weight... |
ORPHA:54251 |
| Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
| Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity |
|
Pancytopenia |
OMIM:600546 |
| Fanconi-Like Syndrome |
|
Recurrent lower respiratory tract infections, Pancytopenia |
OMIM:227850 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
| Immunodeficiency 64 |
|
Decreased lymphocyte proliferation in response to mitogen, Failure to thrive, Increased circulati... |
OMIM:618534 |
| Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:89838 |
| Neuroectodermal Melanolysosomal Disease |
|
Hypopigmentation of the skin, Generalized hyperpigmentation, Hypopigmentation of hair, Premature ... |
ORPHA:33445 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Anemia, Recurrent infections, Hyperuricemia, Neutropenia |
OMIM:617056 |
| Familial Thyroid Dyshormonogenesis |
|
Neonatal hyperbilirubinemia, Hypothermia, Lethargy, Abnormal circulating thyroglobulin level |
ORPHA:95716 |
| Pearson Marrow-Pancreas Syndrome |
|
Hypoplastic anemia, Failure to thrive, Neutropenia, Sideroblastic anemia, Hyperbilirubinemia, Sma... |
OMIM:557000 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Profuse pigmented skin lesions |
ORPHA:280785 |
| Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Autoimmune thrombocytopenia, Decreased proportion... |
OMIM:619846 |
| Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality |
|
Bone marrow hypercellularity, Abnormal megakaryocyte morphology, Abnormality of bone marrow strom... |
ORPHA:86841 |
| Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Recurrent bronchitis, Anemia, Thrombocytopenia |
OMIM:131400 |
| Thrombocytopenia With Elevated Serum Iga And Renal Disease |
|
Thrombocytopenia, Increased circulating IgA level |
OMIM:314000 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Loss of consciousness, Increased C-peptide level, Large for gestational age, Hypoglycemic coma, D... |
ORPHA:276575 |
| Marburg Hemorrhagic Fever |
|
Elevated circulating creatinine concentration, Reticulocytosis, Increased circulating antibody le... |
ORPHA:99826 |
| Agammaglobulinemia, X-Linked |
|
Sepsis, B lymphocytopenia, Decreased circulating IgE, Decreased circulating IgA level, Pyoderma, ... |
OMIM:300755 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation |
OMIM:113750 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Bone marrow hypocellularity, Thrombocytopenia, Recurrent opportunistic infections, Pancytopenia |
OMIM:613987 |
| Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
| Immunodeficiency 23 |
|
Failure to thrive, Lymphopenia, Eosinophilia, Abscess, Increased circulating IgG level, Severe va... |
OMIM:615816 |
| Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Aplastic anemia, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Anemia |
OMIM:614742 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Coma, Abnormal circulating c... |
OMIM:615838 |
| Neuroleptic Malignant Syndrome |
|
Hypothermia, Hypomagnesemia, Hypocalcemia, Fever, Coma, Leukocytosis, Sepsis, Elevated circulatin... |
ORPHA:94093 |
| Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
| Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated circulating acylcarnitine concentration, Failure to thrive, Lethargy |
ORPHA:26792 |
| Babesiosis |
|
Fever, Coma, Splenomegaly, Leukopenia, Confusion, Hemolytic anemia, Recurrent pharyngitis, Recurr... |
ORPHA:108 |
| Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Petechiae, Bruising susceptibility, Splenomegaly, Prolonged bleeding after dental extraction, Men... |
OMIM:153670 |
| Lymphedema, Primary, With Myelodysplasia |
|
Leukemia, Acute myeloid leukemia, Decreased CD4:CD8 ratio, Pancytopenia |
OMIM:614038 |
| Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Failure to thrive, Decreased circulating IgG level, Recurrent infections, Neutropenia |
OMIM:608809 |
| Bone Marrow Failure Syndrome 2 |
|
Bone marrow hypocellularity, Leukopenia, Anemia, Thrombocytopenia |
OMIM:615715 |
| Glutaric Acidemia Type 3 |
|
Failure to thrive, Abnormality of circulating enzyme level, Lethargy, Elevated circulating glutar... |
ORPHA:35706 |
| Neutropenia, Severe Congenital, X-Linked |
|
Bone marrow arrest at the promyelocytic stage, Recurrent bacterial infections, Neutropenia, Decre... |
OMIM:300299 |
| Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Failure to thrive, Leukopenia, Aplastic anemia, Pancytopenia, Neutropenia, Bone marrow hypocellul... |
OMIM:613989 |
| Glycine Encephalopathy |
|
Hyperglycinemia, Lethargy |
OMIM:605899 |
| Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... |
ORPHA:158681 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Microcytic anemia, Internal hemorrhage, Prolonged bleeding time |
ORPHA:90308 |
| Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
| Hyperlysinuria With Hyperammonemia |
|
Hyperlysinemia, Coma, Lethargy, Hyperammonemia |
OMIM:238750 |
| Wiskott-Aldrich Syndrome |
|
Sepsis, Decreased mean platelet volume, Abnormal delayed hypersensitivity skin test, Decreased ci... |
OMIM:301000 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Increased C-peptide level, Large for gestational age, Hypoglycemic coma, Drowsiness, Lethargy, Lo... |
ORPHA:276580 |
| Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
| Tularemia |
|
Increased circulating antibody level, Fever, Leukocytosis, Anemia, Brain abscess, Confusion, Meni... |
ORPHA:3392 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Increased circulating IgA level, Sparse hair, Abnormal circulating IgG level, Aplasia of the eccr... |
OMIM:300291 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Elevated circulating creatine kinase concentration, Hyperglycinemia, Hyperalaninemia, Hyperamylas... |
OMIM:619386 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Sparse body hair, Anonychia, Abnormality of skin pigmentation, Nail dystrophy, Anemia, Scarring a... |
ORPHA:79402 |
| Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Axillary and groin hyperpigmentation and hypopigmentation |
ORPHA:69125 |
| Sea-Blue Histiocytosis |
|
Sea-blue histiocytosis, Splenomegaly, Hypopigmentation of the skin, Hyperpigmentation of the skin... |
ORPHA:158029 |
| Sepsis In Premature Infants |
|
Increased circulating interleukin 6 concentration, Fever, Decreased body weight, Elevated circula... |
ORPHA:90051 |
| Xeroderma Pigmentosum Variant |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Freckles in sun-exposed areas |
ORPHA:90342 |
| Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
| Isolated Agammaglobulinemia |
|
Failure to thrive, Fever, Sepsis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Men... |
ORPHA:229717 |
| Aplastic Anemia |
|
Bone marrow hypocellularity, Aplastic anemia |
OMIM:609135 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Confusion, Lethargy, Abnormal erythrocyte morphology |
ORPHA:71277 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Hyperalaninemia, Lethargy, Small for gestational age |
OMIM:312170 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Coma, Hemophagocytosis, Splenome... |
OMIM:267700 |
| Bone Marrow Failure And Diabetes Mellitus Syndrome |
|
Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias, Pancytopenia |
OMIM:620044 |
| Primary Intestinal Lymphangiectasia |
|
Decreased circulating IgA level, Hypomagnesemia, Decreased circulating IgG level, Lymphopenia, Hy... |
ORPHA:90362 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:603909 |
| Hypertrichosis Lanuginosa Congenita |
|
Thick eyebrow, Generalized hirsutism, Abnormality of skin pigmentation |
ORPHA:2222 |
| Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Neutropenia |
OMIM:266130 |
| Preeclampsia |
|
Small for gestational age, Increased body mass index, Helicobacter pylori infection, Elevated cir... |
ORPHA:275555 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypothermia, Hyperglycinemia, Hypertaurinemia, Failure to thrive |
OMIM:245400 |
| Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Failure to thrive, Acute hyperammonemia, Coma, Hyperammonemia, Hyperglutaminemia, Delirium, Confu... |
ORPHA:927 |
| Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome |
|
Pancytopenia, Recurrent fever, Splenomegaly |
OMIM:614979 |
| Waardenburg Syndrome, Type 4A |
|
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... |
OMIM:277580 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Hypoplasia of the thymus, Decreased proportion of CD8-positive T cells... |
OMIM:617241 |
| T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Recurrent candida infections, Decreased lymphocyte proliferation in response to mitogen, Increase... |
ORPHA:169160 |
| Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Recurrent bacterial infections, Acute lymphoblastic leukemia, Neutropenia |
OMIM:610738 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Failure to thrive, Hypocalcemia, Splenomegaly, Pancytopenia, Anemia, Thrombocytopenia |
OMIM:259700 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Hypocalcemia, Hypoproteinemia, Hyperammonemia, Small for gestational age, Elevated c... |
ORPHA:26793 |
| Autoerythrocyte Sensitization Syndrome |
|
Joint hemorrhage, Impaired platelet adhesion, Bruising susceptibility, Intracranial hemorrhage, A... |
ORPHA:324636 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, Hypereos... |
ORPHA:2902 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Recurrent bronchopulmonary infections, Splenomegaly, Leukopenia, Sepsis, Increased circulating Ig... |
OMIM:617303 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Recurrent candida infections, Failure to thrive, Splenomegaly, Impaired T cell function, Decrease... |
OMIM:201100 |
| Wiskott-Aldrich Syndrome |
|
Hematochezia, Spontaneous hematomas, Prolonged bleeding time, Recurrent intrapulmonary hemorrhage... |
ORPHA:906 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated circulating acylcarnitine concentration, Hypothermia, Coma, Hyperammonemia, Elevated cre... |
ORPHA:159 |
| Gaucher Disease Type 1 |
|
Increased circulating antibody level, Splenomegaly, Leukopenia, Pancytopenia, Anemia, Thrombocyto... |
ORPHA:77259 |
| Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Splenomegaly, Partial absence o... |
OMIM:240500 |
| Neonatal Lupus Erythematosus |
|
Neutropenia, Splenomegaly, Aplastic anemia, Hemolytic anemia, Pancytopenia, Anemia, Thrombocytopenia |
ORPHA:398124 |
| Igg4-Related Aortitis |
|
Increased circulating antibody level, Fever, Elevated circulating C-reactive protein concentratio... |
ORPHA:449400 |
| Bone Marrow Failure Syndrome 6 |
|
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Recurrent sinusitis,... |
OMIM:618849 |
| Neonatal Alloimmune Neutropenia |
|
Fever, Neutropenia in presence of anti-neutropil antibodies, Severe infection, Sepsis, Meningitis... |
ORPHA:464370 |
| Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
| Focal Myositis |
|
Weight loss, Fever, Elevated circulating creatine kinase concentration |
ORPHA:48918 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Hyperlipidemia, Lymphopenia, Small for gestational age, Abnormal lymphocyte ph... |
ORPHA:1830 |
| 2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypothermia, Lethargy |
OMIM:610006 |
| Hemochromatosis Type 2 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormality of iro... |
ORPHA:79230 |
| Rhabdoid Tumor |
|
Fever, Anemia, Hypercalcemia, Weight loss, Thrombocytopenia |
ORPHA:69077 |
| Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
|
Meningitis, Confusion, Herpes simplex encephalitis, Lethargy |
OMIM:617900 |
| Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Hypochromic anemia, Generalized hypopigmentation |
OMIM:257790 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Recurrent otitis m... |
OMIM:600802 |
| Wolcott-Rallison Syndrome |
|
Fever, Decreased body weight, Hyperbilirubinemia, Lymphocytosis, Hyperammonemia, Iron deficiency ... |
ORPHA:1667 |
| Cyclic Neutropenia |
|
Recurrent fever, Lymphopenia, Recurrent tonsillitis, Opportunistic infection, Severe infection, S... |
ORPHA:2686 |
| Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
| Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
| Pelger-Huet Anomaly |
|
Failure to thrive, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Abnormality of ... |
OMIM:169400 |
| Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
| Urocanase Deficiency |
|
Fair hair, Blue irides |
OMIM:276880 |
| Glycerol Kinase Deficiency |
|
Coma, Small for gestational age, Hypertriglyceridemia, Lethargy, Loss of consciousness |
OMIM:307030 |
| Selective Igm Deficiency |
|
Onychomycosis, Recurrent infection of the gastrointestinal tract, Sepsis, Severe viral infection,... |
ORPHA:331235 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Recurrent fever, Increased circulating antibody level, Failure to thrive, Lymphopenia, Splenomega... |
OMIM:617591 |
| Thrombocytopenia 3 |
|
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae |
OMIM:273900 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Lack of T cell function, Decreased lymphocyte proliferation in response to mitogen, Decreased cir... |
ORPHA:35078 |
| Thymic Aplasia |
|
Recurrent streptococcus pneumoniae infections, Recurrent infection of the gastrointestinal tract,... |
ORPHA:83471 |
| Lig4 Syndrome |
|
Failure to thrive, Thrombocytopenia, Pancytopenia |
OMIM:606593 |
| Chediak-Higashi Syndrome |
|
Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal dense gra... |
OMIM:214500 |
| Herpes Simplex Virus Encephalitis |
|
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Coma, H... |
ORPHA:1930 |
| Bangstad Syndrome |
|
Small for gestational age, Pancytopenia |
OMIM:210740 |
| Griscelli Syndrome |
|
Fever, Splenomegaly, Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrop... |
ORPHA:381 |
| Shwachman-Diamond Syndrome 1 |
|
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Recurren... |
OMIM:260400 |
| Galactosemia |
|
Failure to thrive, Sepsis, Increased level of galactitol in plasma, Hypergalactosemia, Abnormal e... |
ORPHA:352 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Coma, Hyperammonemia, Confusion, Decreased plasma carnitine, Excessive daytime... |
OMIM:212140 |
| Autoinflammatory Disease, Systemic, X-Linked |
|
Decreased circulating IgG level, Decreased circulating total IgM, Hepatosplenomegaly, B lymphocyt... |
OMIM:301081 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Decreased circulating IgA level, Splenomegaly, Hypersplenism, Pancytopenia, Failure to thrive in ... |
OMIM:613385 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Meningitis, Confusion, Herpes simplex encephalitis, Lethargy |
OMIM:613002 |
| Trichothiodystrophy 3, Photosensitive |
|
Failure to thrive, Increased circulating IgA level, Lymphopenia, Recurrent infections, Neutropenia |
OMIM:616395 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Coma, Hyperammonemia, Cachexia, Elevated circulating creatine kinase concentration, Decreased pla... |
ORPHA:42 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Megaloblastic anemia, Failure to thrive, Elevated circulating palmitoleylcarnitine concentration,... |
ORPHA:79284 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Recurrent gastroenteritis, Hypomagnesemia, Neutropenia in presence of anti-neutropil antibodies, ... |
ORPHA:37042 |
| Relapsing Fever |
|
Fever, Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukope... |
ORPHA:91547 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Circulating nucleated red blood cells, Anemia of inadequate production, Hyperbilirubinemia, Splen... |
OMIM:613673 |
| Waardenburg-Shah Syndrome |
|
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Hypopigmentation of hair, White... |
ORPHA:897 |
| Hereditary Central Diabetes Insipidus |
|
Fever, Weight loss, Lethargy |
ORPHA:30925 |
| Systemic Lupus Erythematosus 17 |
|
Recurrent fever, Fever, Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia |
OMIM:301080 |
| Alpha-Mannosidosis, Adult Form |
|
Recurrent gastroenteritis, Hepatosplenomegaly, Confusion, Drowsiness, Recurrent infections, Pancy... |
ORPHA:309288 |
| Wolfram Syndrome, Mitochondrial Form |
|
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
| Idiopathic Localized Lipodystrophy |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:90158 |
| Tuberculosis |
|
Fever, Weight loss |
ORPHA:3389 |
