Gene Summary

Name:
RAB27A, member RAS oncogene family
Synonyms:
4933437C11Rik,  2410003M20Rik,  2210402C08Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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Viewing: all phenotypes

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 Rab27a mutations

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

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

The table below shows human diseases associated to Rab27a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Rab27a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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