Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Thrombocytopenia 7
Reduced platelet alpha granules, Post-partum hemorrhage, Impaired ADP-induced platelet aggregatio... OMIM:619130
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Athrombia, Essential
Impaired platelet aggregation, Impaired platelet adhesion, Abnormal bleeding, Prolonged bleeding ... OMIM:209050
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:619271
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time, Giant platelets OMIM:608404
Glanzmann Thrombasthenia 2
Prolonged bleeding after surgery, Prolonged bleeding time, Impaired epinephrine-induced platelet ... OMIM:619267
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Tented Eyebrows
Abnormal hair morphology OMIM:611426
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Abnormal bleeding, Macrothrombocytopenia, Thrombocytopenia, Petech... OMIM:187800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Abnormal bleeding, Thrombocytopenia, Anemia, Splenomegaly, Abnormal h... ORPHA:231393
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Thrombocythemia 1
Thrombocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet ... OMIM:187950
Macrothrombocytopenia and progressive sensorineural deafness
Abnormal bleeding, Prolonged bleeding time, Macrothrombocytopenia, Thrombocytopenia, Giant platel... OMIM:600208
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Prolonged bleeding time, Gastrointestinal he... OMIM:231200
Platelet Disorder, Undefined
Impaired platelet aggregation, Abnormal bleeding, Thrombocytopenia, Prolonged bleeding time OMIM:173420
Bleeding Disorder, Platelet-Type, 18
Impaired platelet aggregation, Prolonged bleeding time, Epistaxis 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
Impaired platelet aggregation, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Intracran... OMIM:173470
Platelet Aggregation, Spontaneous
Spontaneous platelet aggregation, Abnormal platelet function OMIM:173400
Glanzmann Thrombasthenia 1
Impaired platelet aggregation, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, Int... OMIM:273800
Bleeding Disorder, Platelet-Type, 8
Persistent bleeding after trauma, Abnormal bleeding, Prolonged bleeding after surgery, Impaired A... OMIM:609821
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin, Anemia OMIM:617409
Book Syndrome
Premature graying of hair OMIM:112300
Sebastian syndrome
Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets... OMIM:605249
Platelet Responsiveness To Adrenaline, Depressed
Impaired epinephrine-induced platelet aggregation OMIM:173580
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Abnormal bleeding, Persistent bleeding after trauma, Prolonged ble... OMIM:277480
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
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
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Leukocyte inclusion bodi... OMIM:155100
Albinism, Oculocutaneous, Type Iii
Albinism, Partial albinism, Red hair OMIM:203290
Dyschromatosis Universalis Hereditaria
Freckling, Spotty hypopigmentation, Multiple cafe-au-lait spots, Hypopigmented skin patches, Hype... ORPHA:241
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Bruising susceptibility, Epistaxis,... OMIM:614009
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Prolonged bleeding time, Abnormal alpha ... OMIM:601399
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Agammaglobulinemia 3, Autosomal Recessive
Recurrent bronchitis, Recurrent otitis media, Neutropenia, Agammaglobulinemia, Failure to thrive,... OMIM:613501
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Abnormal number of alpha granules, Impaired thrombin-... OMIM:139090
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, BCGosis, Leukocytosis, Pancytopenia... OMIM:618963
Quebec Platelet Disorder
Joint hemorrhage, Impaired epinephrine-induced platelet aggregation, Epistaxis, Thrombocytopenia,... OMIM:601709
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Storage Pool Platelet Disease
Abnormal bleeding, Decreased mean platelet volume, Prolonged bleeding time, Acute leukemia OMIM:185050
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Uncombable Hair Syndrome
Trichodysplasia, Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Woolly hair ORPHA:1410
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:126070
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Abnormal natural killer cell phys... OMIM:613101
Von Willebrand Disease
Abnormal thrombocyte morphology, Abnormal platelet function ORPHA:903
Glanzmann Thrombasthenia
Prolonged bleeding after surgery, Prolonged bleeding time, Gastrointestinal hemorrhage, Purpura, ... ORPHA:849
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level, Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia... OMIM:615285
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:214450
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent Staphylococcus aureus infections, Decreased proportion of CD4-positive helper T cells, ... ORPHA:572
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Lymphoproliferative Syndrome, X-Linked, 2
Increased circulating ferritin concentration, Hemophagocytosis, Decreased circulating antibody le... OMIM:300635
Agammaglobulinemia 7, Autosomal Recessive
Recurrent infections, Recurrent respiratory infections, Agammaglobulinemia, Neutropenia OMIM:615214
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Fever, Hepatosplenomegaly, Redu... OMIM:608898
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Menorrhagia OMIM:617443
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Recurrent urinary tract infections, Neutropeni... OMIM:300988
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Neutropenia, Partial albinism ORPHA:90023
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechia... OMIM:314050
Slc35A1-Cdg
Abnormal bleeding, Pulmonary hemorrhage, Prolonged bleeding time, Neutropenia, Thrombocytopenia, ... ORPHA:238459
Pseudopili Annulati
Abnormality of the scalp hair, Abnormality of hair texture OMIM:613241
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Increased circulating ... OMIM:614470
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia, Abnormal bleeding, Prolonged bleeding time OMIM:188025
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Joint hemorrhage, Intestinal bleeding, Epistaxis, Menorrhagia, Bru... OMIM:605735
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ataxia-Pancytopenia Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Gait disturbance, Abnormal macr... ORPHA:2585
Transcobalamin Deficiency
Decreased circulating antibody level, Lymphopenia, Neutropenia, Thrombocytopenia, Pancytopenia, D... ORPHA:859
Fechtner syndrome
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Leukocyte inclusion bodies, Menorrh... OMIM:153640
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Increased circulating IgM level, Severe Epstein Barr virus infec... OMIM:308240
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Hypopigmentation of hair, Bruising susceptibility, Hypopigmentation of the ski... OMIM:614072
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2435
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Neutropenia, Hypopigmentation of the skin OMIM:610798
Immunodeficiency 24
Partial absence of specific antibody response to tetanus vaccine, Defective T cell proliferation,... OMIM:615897
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Persistent EBV viremia... OMIM:613011
Griscelli Syndrome, Type 2
Hemophagocytosis, Melanin pigment aggregation in hair shafts, Silver-gray hair, Accumulation of m... OMIM:607624
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Thrombocytope... OMIM:187900
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Bruising s... OMIM:614075
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Vitiligo, Cafe-au-lait spot, Hypopigmented skin patches, Hypermela... OMIM:145250
Leishmaniasis
Increased circulating antibody level, Abnormal macrophage morphology, Weight loss, Pancytopenia, ... ORPHA:507
Lymphoproliferative Syndrome 2
Hemophagocytosis, Recurrent pneumonia, EBV meningitis, Persistent EBV viremia, EBV encephalitis, ... OMIM:615122
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia, Abnormal bleeding OMIM:188030
Acquired Idiopathic Sideroblastic Anemia
Increased megakaryocyte count, Abnormal megakaryocyte morphology, Neutropenia, Pancytopenia, Eryt... ORPHA:75564
Immunodeficiency 46
Intermittent thrombocytopenia, Chronic oral candidiasis, Decreased circulating antibody level, Ne... OMIM:616740
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Increased circulating IgM level, Recurrent fungal infections, Bone ma... ORPHA:2688
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Von Willebrand Disease, Type 1
Impaired platelet aggregation, Persistent bleeding after trauma, Prolonged bleeding after surgery... OMIM:193400
Immunodeficiency 18
Defective T cell proliferation, Recurrent gastroenteritis, Decreased proportion of CD3-positive T... OMIM:615615
Hypotrichosis 13
Woolly hair, Sparse and thin eyebrow, Sparse hair OMIM:615896
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Neutropenia, Agammaglobulinemia, Recurrent pneumonia, Recurrent respirato... OMIM:613502
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Increased... ORPHA:182050
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Cutaneous anergy, Decreased helper T cell proportion, Pancytopenia, Hypersplenism, Splenomegaly OMIM:183350
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Whim Syndrome 1
Myelokathexis, Bone marrow hypercellularity, Recurrent upper respiratory tract infections, Decrea... OMIM:193670
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Abnormal bleeding, Bruising susceptibility, Epistaxis OMIM:614076
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, Decreased proportion of CD4-positive helper T cells, Neonatal sepsis, Neutropenia,... ORPHA:169154
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin OMIM:606952
Immunodeficiency, Common Variable, 13
Decreased circulating antibody level, Pancytopenia, B lymphocytopenia, Recurrent bacterial infect... OMIM:616873
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Increased circ... OMIM:202700
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Recurrent pneumonia, Thrombocytosis, Megaloblastic anemia, Decreased circulating antibody level, ... OMIM:617780
Immunodeficiency With Hyper-Igm, Type 3
Impaired memory B cell generation, Increased circulating IgM level, Decreased circulating IgE, Ne... OMIM:606843
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Albinism, Patchy hypo- and hyperpigmentation OMIM:300700
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Autoimmune Lymphoproliferative Syndrome, Type Iii
Decreased proportion of class-switched memory B cells, Increased proportion autoreactive unrespon... OMIM:615559
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, T l... OMIM:618986
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent otitis media, Neutropenia, Failure to thrive, Recurrent bacterial infections, Recurrent... OMIM:616022
Severe Combined Immunodeficiency, X-Linked
T lymphocytopenia, Recurrent fungal infections, Chronic oral candidiasis, Decreased circulating I... OMIM:300400
Transcobalamin Ii Deficiency
Lethargy, Neutropenia, Ataxia, Reticulocytopenia, Pancytopenia, Decreased circulating IgA level, ... OMIM:275350
Hermansky-Pudlak Syndrome 5
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Thrombocytopenia, Menorrhagia, Bruising su... OMIM:614074
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Immunodeficiency 81
Decreased proportion of class-switched memory B cells, Autoimmune hemolytic anemia, Abnormally lo... OMIM:619374
Hypotrichosis 14
Sparse body hair, Sparse hair OMIM:618275
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, Recurrent sinusitis, Neutrophilia, B lymphocytopenia, ... OMIM:619281
Essential Thrombocythemia
Prolonged bleeding time, Splenomegaly, Abnormal thrombocyte morphology, Abnormal platelet morphol... ORPHA:3318
Sitosterolemia 1
Impaired platelet aggregation, Abnormal bleeding, Episodic hemolytic anemia, Chronic hemolytic an... OMIM:210250
Specific Granule Deficiency 2
Absent neutrophil specific granules, Recurrent otitis media, Neutropenia, Thrombocytopenia, Anemi... OMIM:617475
Immunodeficiency 20
Recurrent otitis media, Recurrent sinusitis, Recurrent oral herpes, Severe varicella zoster infec... OMIM:615707
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Malaria
Hyperbilirubinemia, Reduced consciousness/confusion, Thrombocytopenia, Elevated circulating C-rea... ORPHA:673
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Heterochromia iridis, Partial albinism, Hypopigmented skin patches, ... ORPHA:998
Ermine Phenotype
Vitiligo, Albinism, White eyebrow, White hair, White eyelashes, Spotty hyperpigmentation OMIM:227010
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Coma, Increased total bilirubin, Pancytopenia, Hypo... OMIM:603553
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Ecchymosis OMIM:614201
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides OMIM:606574
Acute Erythroid Leukemia
Erythroid hypoplasia, Bone marrow hypercellularity, Pancytopenia, Anemia, Leukopenia, Bone marrow... ORPHA:318
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Cernunnos-Xlf Deficiency
T lymphocytopenia, Decreased circulating antibody level, Lymphopenia, Recurrent viral infections,... ORPHA:169079
Cutaneous Mastocytoma
Abnormality of skin pigmentation, Hypermelanotic macule, Cutaneous mastocytosis ORPHA:79455
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Megakaryocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Agammaglobulinemia 1, Autosomal Recessive
Decreased circulating antibody level, Recurrent otitis media, Recurrent sinusitis, Neutropenia, A... OMIM:601495
Immunodeficiency 60
Decreased proportion of memory B cells, Decreased circulating IgE, Decreased basophil count, Recu... OMIM:618394
Thrombocytopenia 2
Thrombocytopenia, Bruising susceptibility OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia, Bruising susceptibility OMIM:614200
Bernard-Soulier Syndrome
Prolonged bleeding after surgery, Abnormal bleeding, Gastrointestinal hemorrhage, Hematemesis, Sp... ORPHA:274
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Ataxia, Pancytopenia, Thrombocytopenia, Unsteady gait... OMIM:159550
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Epistaxis, Ecchymosis, Bruising susceptibility OMIM:614158
Thrombocytopenia, Cyclic
Thrombocytopenia, Abnormal bleeding, Neutropenia, Cyclic neutropenia OMIM:188020
Alopecia Totalis
Alopecia of scalp, Alopecia ORPHA:700
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Alopecia-Mental Retardation Syndrome 2
Alopecia universalis OMIM:610422
Alopecia-Mental Retardation Syndrome 3
Alopecia universalis OMIM:613930
Alopecia-Mental Retardation Syndrome 1
Alopecia universalis OMIM:203650
Woolly Hair
Hypopigmentation of hair, Slow-growing hair, Sparse lateral eyebrow, Brittle hair, Abnormality of... ORPHA:170
Maternal Uniparental Disomy Of Chromosome 1
Panhypogammaglobulinemia, Ataxia, Pancytopenia, Recurrent infections, Failure to thrive ORPHA:251009
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Granulocytic hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Hermansky-Pudlak Syndrome 11
Epistaxis, Impaired collagen-induced platelet aggregation, Reduced platelet dense granules, Menor... OMIM:619172
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Recurrent fungal infections, Lymphopenia, Recurrent viral infections, Neutropenia, Recurrent bact... OMIM:614868
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Alopecia Universalis Congenita
Alopecia universalis, Alopecia OMIM:203655
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Prolonged bleeding after dental extraction, Thrombocytopenia, Giant ... OMIM:137560
Cyclic Neutropenia
Fever, Neutropenia, Cyclic neutropenia OMIM:162800
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Isovaleric Acidemia
Coma, Lethargy, Thrombocytopenia, Pancytopenia, Leukopenia, Bone marrow hypocellularity OMIM:243500
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgM level, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Recurr... OMIM:619220
Reticular Dysgenesis
Abnormality of neutrophils, Decreased circulating antibody level, Weight loss, Anemia, Leukopenia... ORPHA:33355
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating antibody level, Thrombocytopenia, Recurrent infections, Failure to thrive, ... OMIM:618048
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Thrombocytosis, Microcytic anemia, Pancytopenia, Elevated circulating C-reactive protein concentr... OMIM:604416
Bare Lymphocyte Syndrome, Type Ii
Cutaneous anergy, Recurrent fungal infections, Recurrent upper respiratory tract infections, Recu... OMIM:209920
Aregenerative Anemia
Erythroid hypoplasia, Abnormality of interleukin secretion, Decreased proportion of CD4-positive ... ORPHA:101096
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Hypotrichosis 8
Nail pits, Sparse hair, Dry hair, Ridged nail, Coarse hair, Sparse axillary hair, Fair hair, Spar... OMIM:278150
Hereditary Folate Malabsorption
Megaloblastic anemia, Decreased circulating antibody level, Recurrent urinary tract infections, P... ORPHA:90045
Waardenburg Syndrome, Type 4B
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:613265
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Menorrhagia, Bruising susceptibility, Prol... OMIM:227400
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Coma, Hemophagocytosis, Abnormality of multiple cel... ORPHA:540
Fanconi Anemia, Complementation Group V
Elevated alpha-fetoprotein, Neutropenia, Thrombocytopenia, Anemia, Bone marrow hypocellularity OMIM:617243
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal natural killer cell count, Reduced antigen-specific T cell proliferation, Eosinophilia, ... ORPHA:331206
Congenital Enterovirus Infection
Sepsis, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Meningitis, ... ORPHA:292
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Abnormal serum interleukin level, Decreased proportion of memory B cells, Recu... ORPHA:79124
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Methylmalonic Aciduria, Cblb Type
Coma, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acide... OMIM:251110
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent streptococcus pneumoniae infections, Neutropenia, Recurrent staphylococcal infections, ... ORPHA:70592
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Coma, Dystonia, Lethargy, Sepsis, Neutropenia, Thrombocytopenia, Anemia, Hyperammonemia ORPHA:289916
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Recurrent bronchitis, Autoimmune thrombocytopenia, Decreased specific anti-polysaccharide antibod... OMIM:300853
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia, Anemia OMIM:616435
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Recurrent fungal infections, Abnormal natural killer cell morpho... OMIM:614172
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Generalized hypopigmentation, Blue irides OMIM:103500
Mu-Heavy Chain Disease
Increased circulating antibody level, Weight loss, Abnormal B cell count, Splenomegaly, Anemia, A... ORPHA:100024
Immunodeficiency With Hyper-Igm, Type 1
Impaired memory B cell generation, Increased circulating IgM level, Hemolytic anemia, Decreased c... OMIM:308230
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair OMIM:617252
Hypertrichosis, Anterior Cervical
Anterior cervical hypertrichosis OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type
Congenital, generalized hypertrichosis OMIM:145701
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Coma, Dystonia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive,... ORPHA:79312
Methylmalonic Aciduria, Cbla Type
Coma, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acide... OMIM:251100
Immunodeficiency 27A
Increased circulating IgM level, Thrombocytosis, Leukocytosis, Weight loss, Histiocytosis, Increa... OMIM:209950
Primary Myelofibrosis
Low-grade fever, Thrombocytosis, Bone marrow hypercellularity, Leukocytosis, Abnormal megakaryocy... ORPHA:824
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Neutropenia OMIM:617014
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Autoimmune thrombocyt... OMIM:614700
Purine Nucleoside Phosphorylase Deficiency
Recurrent opportunistic infections, Pure red cell aplasia, Increased circulating guanosine concen... OMIM:613179
Congenital Factor Ii Deficiency
Cephalohematoma, Abnormal bleeding, Joint hemorrhage, Intracranial hemorrhage, Prolonged bleeding... ORPHA:325
Methylcobalamin Deficiency Type Cble
Lethargy, Excessive daytime somnolence, Neutropenia, Pancytopenia, Drowsiness, Hypomethioninemia,... ORPHA:2169
Vitamin B12-Responsive Methylmalonic Acidemia
Coma, Lethargy, Failure to thrive, Anemia, Hyperammonemia ORPHA:28
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Decreased circulating IgG level, Hypoalbuminemia, Neutropenia OMIM:600351
Deafness-Lymphedema-Leukemia Syndrome
Myeloproliferative disorder, Prolonged bleeding time, Leukocytosis, Intracranial hemorrhage, Brui... ORPHA:3226
X-Linked Agammaglobulinemia
Hypocalcemia, Neutropenia, Weight loss, Thrombocytopenia, Meningitis, Agammaglobulinemia, Recurre... ORPHA:47
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the skin OMIM:614171
Prothrombin Deficiency, Congenital
Joint hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Prolonged prothrombin tim... OMIM:613679
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Propionic Acidemia
Coma, Dystonia, Lethargy, Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, F... OMIM:606054
Bone Marrow Failure Syndrome 1
Pancytopenia, Bone marrow hypocellularity, Aplastic anemia OMIM:614675
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Iris transillumination defect, Hypopigmentation of the skin OMIM:619165
Hyper-Ige Recurrent Infection Syndrome 5, Autosomal Recessive
Decreased proportion of class-switched memory B cells, Cutaneous abscess, Increased circulating I... OMIM:618944
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Hermansky-Pudlak Syndrome 8
Impaired platelet aggregation, Abnormal bleeding, Epistaxis, Menorrhagia, Bruising susceptibility... OMIM:614077
Hermansky-Pudlak Syndrome 2
Albinism, Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Ocular albinism, Ne... OMIM:608233
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy, Megaloblastic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidem... OMIM:277380
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... ORPHA:2643
Primary Erythromelalgia
Abnormal thrombocyte morphology, Leukemia, Hypothermia, Recurrent respiratory infections ORPHA:90026
Immunodeficiency, Common Variable, 1
Decreased proportion of class-switched memory B cells, Recurrent pneumonia, Recurrent bronchitis,... OMIM:607594
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Thrombocytopenia, Impaired T cell function... OMIM:614576
Neutropenia, Severe Congenital, X-Linked
Neutropenia, Recurrent bacterial infections OMIM:300299
Griscelli Syndrome Type 2
Hemophagocytosis, Neutropenia, Pancytopenia, Splenomegaly, Fever, Hyperlipidemia ORPHA:79477
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Recurrent infections, Anemia, Bon... ORPHA:88
Bone Marrow Failure Syndrome 4
Decreased circulating antibody level, Thrombocytopenia, Anemia, Leukopenia, Bone marrow hypocellu... OMIM:618116
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Ret... ORPHA:79397
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Recurrent infectio... OMIM:229050
Piebald Trait With Neurologic Defects
Absent pigmentation of the ventral chest, White forelock OMIM:172850
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy, Megaloblastic anemia, Gait disturbance, Hypomethioninemia, Failure to thrive, Hyperhomo... OMIM:236270
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Dysplastic granulopoesis, Leukocytosis, Chronic infec... ORPHA:86839
X-Linked Lymphoproliferative Disease
Increased circulating ferritin concentration, Lymphocytosis, Pancytopenia, Histiocytosis, Increas... ORPHA:2442
Woolly Hair, Autosomal Recessive 3
Sparse hair, Curly hair, Sparse scalp hair, Trichorrhexis nodosa, Fine hair, Sparse eyelashes OMIM:616760
Mantle Cell Lymphoma
Splenomegaly, Fever, Weight loss, Abnormality of bone marrow cell morphology ORPHA:52416
Gaucher Disease, Type Iii
Decreased body weight, Ataxia, Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Immunodeficiency 16
Coombs-positive hemolytic anemia, Pancytopenia, Splenomegaly OMIM:615593
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Vacuolated lymphocytes, Recurrent bacterial skin in... ORPHA:167
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Gait disturbance, Lethargy, Megaloblastic bone marrow, Failure to thrive ORPHA:79283
Waardenburg Syndrome, Type 2A
Albinism, Heterochromia iridis, Premature graying of hair, White eyebrow, Synophrys, White eyelas... OMIM:193510
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Recurrent respiratory infections, Decreased circulating IgG leve... OMIM:251190
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Reticular Dysgenesis
Congenital agranulocytosis, Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Impai... OMIM:267500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic macule, Spo... ORPHA:79399
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Increased circulating IgE level, Recurrent... ORPHA:277
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Myelofibrosis, Bone marrow hypercellularity, Abnormality of bone marrow stromal ce... ORPHA:86843
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Lymphopenia, Neutropenia, Anemia, Increased serum iron OMIM:604250
Vitamin B12-Unresponsive Methylmalonic Acidemia
Coma, Lethargy, Ataxia, Thrombocytopenia, Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia ORPHA:27
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Recurrent pneumonia, Intermittent thrombocytopenia, Chronic oral candidia... OMIM:150550
Poikiloderma With Neutropenia
Recurrent otitis media, Recurrent sinusitis, Neutropenia, Splenomegaly, Recurrent pneumonia, Elev... OMIM:604173
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia, Failure to thrive, Unexplai... OMIM:614727
Hemophilia B
Prolonged bleeding after surgery, Cephalohematoma, Prolonged bleeding time, Joint hemorrhage, Spo... ORPHA:98879
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Trimethylaminuria
Recurrent pneumonia, Neutropenia, Anemia, Splenomegaly OMIM:602079
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Lethargy, Abnormal posturing, Neutropenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hype... OMIM:614857
Hermansky-Pudlak Syndrome 1
Freckles in sun-exposed areas, Albinism, Freckling, Prolonged bleeding time, Abnormal hair morpho... OMIM:203300
Epidermolysis Bullosa Simplex, Generalized, With Scarring And Hair Loss
Hypopigmentation of the skin OMIM:617294
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Splenomegaly OMIM:618541
Acute Promyelocytic Leukemia
Bone marrow hypercellularity, Leukocytosis, Chronic infection, Neutropenia, Weight loss, Pancytop... ORPHA:520
Mastocytosis, Cutaneous
Hypermelanotic macule, Cutaneous mastocytosis OMIM:154800
Aicardi-Goutieres Syndrome 4
Dystonia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly OMIM:610333
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Immunodeficiency 52
Coombs-positive hemolytic anemia, Recurrent pneumonia, Autoimmune thrombocytopenia, Persistent EB... OMIM:617514
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2
Myeloid leukemia, Pancytopenia, Aplastic anemia, Leukemia, Bone marrow hypocellularity OMIM:614743
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent sinusitis, Recurrent... OMIM:616576
Homocystinuria Without Methylmalonic Aciduria
Failure to thrive, Lethargy, Megaloblastic bone marrow, Ataxia ORPHA:622
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Recurrent ear infections, Lymphopenia, Leukemia, Neutropenia, Recurrent viral infect... ORPHA:486
Autosomal Agammaglobulinemia
Neutropenia, Meningitis, Agammaglobulinemia, Recurrent infections, Failure to thrive, Sepsis, Fev... ORPHA:33110
Meningococcal Meningitis
Lethargy, Reduced consciousness/confusion, Drowsiness, Elevated circulating C-reactive protein co... ORPHA:33475
Piebald Trait
Heterochromia iridis, Partial albinism, White forelock, Absent pigmentation of the ventral chest,... OMIM:172800
Oculocutaneous Albinism Type 3
Iris hypopigmentation, Freckling, Generalized hypopigmentation of hair, White eyebrow, Red hair, ... ORPHA:79433
Shwachman-Diamond Syndrome
Neutropenia, Pancytopenia, Leukopenia, Anemia, Thrombocytopenia, Chronic neutropenia, Impaired ne... ORPHA:811
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, Premature graying of hair, White forelock, Hypopi... ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Pgm3-Cdg
Cutaneous abscess, Decreased proportion of CD4-positive helper T cells, Neutropenia, Increased ci... ORPHA:443811
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Small for gestational age, Elevated circulating creatine k... OMIM:618775
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Difficulty walking, Elevated circulating creatine kinase concentration, Neutropenia, Microcytic a... OMIM:251900
Caspase 8 Deficiency
Recurrent herpes, Complete or near-complete absence of specific antibody response to unconjugated... OMIM:607271
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Abnormality of T cell physiology, Recurrent protozoan infections, Recurrent viral infections, Rec... OMIM:308220
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Hypothermia, Lethargy ORPHA:95717
Lichtenstein Syndrome
Recurrent respiratory infections, Recurrent infections, Decreased circulating IgA level, Neutropenia OMIM:246550
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Albinism, Hypopigmentation of the skin ORPHA:2786
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Weight loss, Pancytopenia, T... ORPHA:98850
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Coma, Lethargy, Hyperglycinemia, Thrombocytopenia, Methylmalonic acidemia, Leukopenia, Failure to... OMIM:251000
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia, Ataxia OMIM:613839
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
3-Methylglutaconic Aciduria, Type Vii
Recurrent infections, Neutropenia OMIM:616271
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Albinism, Freckles in sun-exposed areas, Red hair, Blue irides, Hypopig... OMIM:203200
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Decreased circulating antibody level, Lymphopenia, Recurrent otitis... OMIM:615688
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet gl... OMIM:603585
N-Acetylglutamate Synthase Deficiency
Coma, Lethargy, Increased level of L-glutamic acid in blood, Confusion, Failure to thrive, Hypera... OMIM:237310
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia, Ataxia OMIM:616949
Holocarboxylase Synthetase Deficiency
Coma, Lethargy, Ataxia, Weight loss, Thrombocytopenia, Hyperammonemia ORPHA:79242
Pulmonary Blastoma
Fever, Weight loss, Recurrent pneumonia ORPHA:64741
Thrombotic Thrombocytopenic Purpura
Coma, Microangiopathic hemolytic anemia, Reticulocytosis, Confusion, Thrombocytopenia, Decreased ... ORPHA:54057
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Recurrent fungal infections, Recurrent viral infection... OMIM:603554
Dengue Fever
Hypoproteinemia, Lethargy, Thrombocytopenia, Leukopenia, Fever ORPHA:99828
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Marburg Hemorrhagic Fever
Lethargy, Weight loss, Thrombocytopenia, Leukopenia, Recurrent pharyngitis, Fever ORPHA:99826
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:601859
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia, Bruising susceptibility, Epistaxis OMIM:613554
Methylmalonic Acidemia With Homocystinuria
Gait disturbance, Lethargy, Megaloblastic bone marrow, Failure to thrive ORPHA:26
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Confusion, Meningitis, Lethargy, Herpes simplex encephalitis OMIM:617900
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Impaired platelet aggregation, Iron deficiency anemia OMIM:618372
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Increased circulating IgE level, Prolonge... OMIM:600903
Central Diabetes Insipidus
Lethargy, Excessive daytime somnolence, Hyponatremia, Weight loss, Failure to thrive, Fever ORPHA:178029
Retinal Telangiectasia And Hypogammaglobulinemia
Decreased circulating IgG level, Reduced delayed hypersensitivity OMIM:267900
Neurofibromatosis-Noonan Syndrome
Cryptorchidism, Prolonged bleeding time, Multiple cafe-au-lait spots ORPHA:638
Coenzyme Q10 Deficiency, Primary, 1
Elevated circulating creatine kinase concentration, Anemia, Pancytopenia, Ataxia OMIM:607426
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Failure to thrive, Bone marrow hypoc... OMIM:613989
Piebald Trait-Neurologic Defects Syndrome
Hypopigmentation of hair, Abnormal eyebrow morphology, Irregular hyperpigmentation, Heterochromia... ORPHA:2885
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Increased circulating IgE level, Autoimmune thrombocytopenia, N... OMIM:304790
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, White forelock OMIM:601706
Combined Oxidative Phosphorylation Deficiency 34
Pancytopenia, Failure to thrive OMIM:617872
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Lethargy, Ataxia, Impaired T cell function, Failure to thrive, Splenomegaly, Recurrent candida in... OMIM:201100
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Elejalde Disease
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Wolfram Syndrome 2
Decreased circulating antibody level, Abnormal bleeding, Impaired collagen-induced platelet aggre... OMIM:604928
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Failure to thrive, Splenomegaly, Hypothermia OMIM:251880
Immunodeficiency 23
Increased circulating IgM level, Increased circulating IgE level, Hemolytic anemia, Recurrent sta... OMIM:615816
Uncombable Hair Syndrome 1
Pili canaliculi, Uncombable hair, Dry hair OMIM:191480
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Immunodeficiency 67
Recurrent streptococcal infections, Increased circulating IgE level, Recurrent staphylococcal inf... OMIM:607676
3-Hydroxy-3-Methylglutaric Aciduria
Coma, Lethargy, Thrombocytosis, Leukocytosis, Hypoglycemic coma, Hyperuricemia, Ataxia, Weight lo... ORPHA:20
Woolly Hair, Autosomal Dominant
Dry hair, Abnormal hair morphology, Coarse hair, Slow-growing hair, Woolly hair OMIM:194300
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation OMIM:188150
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Ataxia OMIM:266130
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Dystonia, Lethargy, Failure to thrive ORPHA:26792
Acute Myelomonocytic Leukemia
Leukocytosis, Weight loss, Thrombocytopenia, Anemia, Eosinophilia ORPHA:517
Idiopathic Achalasia
Weight loss, Decreased prealbumin level ORPHA:930
Necrotizing Enterocolitis
Temperature instability, Lethargy, Leukocytosis, Neonatal sepsis, Hyponatremia, Neutropenia, Thro... ORPHA:391673
Glycine Encephalopathy
Lethargy, Hyperglycinemia, Hyperactivity OMIM:605899
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Hemolytic anemia, Reticulocytosis, Hypokalemia, Failure to thrive, Decreased mean corpu... OMIM:611590
Staphylococcal Necrotizing Pneumonia
Lethargy, Leukocytosis, Confusion, Severe infection, Elevated circulating C-reactive protein conc... ORPHA:36238
Hyperinsulinism Due To Hnf1A Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Small for gestational age, La... ORPHA:324575
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, De... ORPHA:276556
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Dystonia, Chronic neutropenia, Anemia OMIM:619302
Felty Syndrome
Recurrent pneumonia, Abnormal lymphocyte morphology, Recurrent urinary tract infections, Neutrope... ORPHA:47612
Fanconi-Like Syndrome
Pancytopenia, Recurrent lower respiratory tract infections OMIM:227850
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Eosinophilia, Familial
Recurrent bronchitis, Leukocytosis, Thrombocytopenia, Anemia, Eosinophilia OMIM:131400
Immunodeficiency 83, Susceptibility To Viral Infections
Confusion, Meningitis, Lethargy, Herpes simplex encephalitis OMIM:613002
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss, Brain abscess, Elevated circulating C-reactive protein concentration, Anemia, Neutro... ORPHA:54251
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Anemia, Recurrent infections, Hyperuricemia, Neutropenia OMIM:617056
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Bone marrow hypercellularity, Abnormality of bone marrow st... ORPHA:86841
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:89838
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Neuroectodermal Melanolysosomal Disease
Generalized hyperpigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Premature ... ORPHA:33445
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Dystonia, Chronic neutropenia OMIM:619301
Immunodeficiency 64
Abnormal CD4:CD8 ratio, Increased circulating IgM level, Increased proportion autoreactive unresp... OMIM:618534
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1
Myeloid leukemia, Pancytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:614742
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Pyruvate Dehydrogenase E1-Alpha Deficiency
Dystonia, Lethargy, Episodic ataxia, Hyperalaninemia, Small for gestational age OMIM:312170
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia, Lethargy ORPHA:95716
Neuroleptic Malignant Syndrome
Coma, Hypocalcemia, Delirium, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Reduced ... ORPHA:94093
Babesiosis
Coma, Hemolytic anemia, Confusion, Thrombocytopenia, Recurrent infections, Leukopenia, Splenomega... ORPHA:108
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Increased serum iron, Lethargy, Splenomegaly OMIM:602390
Bangstad Syndrome
Pancytopenia, Progressive cerebellar ataxia, Small for gestational age OMIM:210740
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Lethargy, Abnormal erythrocyte morphology, Ataxia, Confusion ORPHA:71277
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation OMIM:113750
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, De... ORPHA:276575
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Stomatocytosis, Prolonged bleeding after dental extraction, Increased mean plat... OMIM:153670
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Cirrhosis, Familial
Fever, Lethargy, Increased level of propylene glycol in blood OMIM:215600
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Barth Syndrome
Recurrent infections in infancy and early childhood, Gait disturbance, Neutropenia, Granulocytope... OMIM:302060
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Bullous Diffuse Cutaneous Mastocytosis
Profuse pigmented skin lesions, Cutaneous mastocytosis ORPHA:280785
Ectodermal Dysplasia And Immunodeficiency 1
Abnormal circulating IgG level, Increased circulating IgM level, Sparse hair, Aplasia of the eccr... OMIM:300291
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Ocular albinism, Hypopigmentation of the skin OMIM:601220
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Hyperpigmentation of the skin, Generalized hypopigmentation, Generalize... ORPHA:158681
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Combined Oxidative Phosphorylation Deficiency 37
Hypothermia, Failure to thrive, Hyperalaninemia OMIM:618329
Klippel-Trénaunay Syndrome
Internal hemorrhage, Prolonged bleeding time, Gastrointestinal hemorrhage, Microcytic anemia ORPHA:90308
Tularemia
Cutaneous abscess, Leukocytosis, Increased circulating antibody level, Confusion, Thrombocytopeni... ORPHA:3392
Mucopolysaccharidosis-Plus Syndrome
Inability to walk, Recurrent pneumonia, Increased circulating IgM level, Neutropenia, Recurrent b... OMIM:617303
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Waddling gait, Recurrent ... OMIM:242900
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Increased circulating antibody level, Dystonia, Splenomegaly OMIM:615846
Aplastic Anemia
Bone marrow hypocellularity, Aplastic anemia OMIM:609135
Griscelli Syndrome
Abnormality of neutrophils, Decreased circulating antibody level, Abnormal circulating lipid conc... ORPHA:381
Galactosemia
Dystonia, Lethargy, Gait disturbance, Increased level of galactitol in plasma, Hypergalactosemia,... ORPHA:352
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Decreased circulating IgG level, Recurrent infections, Neutropenia, Failure to thrive OMIM:608809
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Coma, Delirium, Lethargy, Hyperglutaminemia, Ataxia, Confusion, Drowsiness, Acute hyperammonemia,... ORPHA:927
Hyperlysinuria With Hyperammonemia
Coma, Hyperammonemia, Lethargy, Hyperlysinemia OMIM:238750
Ebola Hemorrhagic Fever
Coma, Lethargy, Thrombocytopenia, Leukopenia, Recurrent pharyngitis ORPHA:319218
Preeclampsia
Helicobacter pylori infection, Elevated circulating creatinine concentration, Thrombocytopenia, S... ORPHA:275555
Sepsis In Premature Infants
Temperature instability, Disseminated viral infection, Leukocytosis, Neonatal sepsis, Neutropenia... ORPHA:90051
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Hypoglycemic coma, Drowsiness, Increased C-peptide level, Large for gestational age, Lo... ORPHA:276580
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Hyperpigmentation of the skin, Splenomegaly, Hypopigmen... ORPHA:158029
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Coma, Increased total bilirubin, Hypoproteinemia, H... OMIM:267700
Immunodeficiency 55
Recurrent infections, Neutropenia OMIM:617827
Lymphedema, Primary, With Myelodysplasia
Pancytopenia, Leukemia OMIM:614038
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule ORPHA:69125
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Leukopenia, Anemia, Failure to thrive, Bone marrow hypo... OMIM:619151
Wiskott-Aldrich Syndrome
Decreased specific anti-polysaccharide antibody level, Decreased proportion of CD4-positive helpe... OMIM:301000
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Failure to thrive OMIM:259700
Combined Oxidative Phosphorylation Deficiency 52
Lethargy, Hyperglycinemia, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase... OMIM:619386
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Difficulty walking, Hyperbilirubinemia, Hyponatremia, Neut... ORPHA:1667
Developmental And Epileptic Encephalopathy 92
Inability to walk, Dystonia, Lethargy, Difficulty walking, Ataxia OMIM:617829
Intermediate Generalized Junctional Epidermolysis Bullosa
Abnormality of skin pigmentation, Anonychia, Scarring alopecia of scalp, Anemia, Sparse body hair... ORPHA:79402
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Recurrent herpes, Failure to thrive secondary to recurrent infections, Chronic oral candidiasis, ... ORPHA:169160
Citrullinemia Type I
Coma, Lethargy, Ataxia, Torticollis, Failure to thrive, Hyperammonemia, Elevated plasma citrullin... ORPHA:247525
Lujo Hemorrhagic Fever
Recurrent pharyngitis, Coma, Fever, Lethargy ORPHA:319213
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Meningitis, Recurre... ORPHA:229717
Rhabdoid Tumor
Weight loss, Thrombocytopenia, Hypercalcemia, Anemia, Fever ORPHA:69077
Spontaneous Periodic Hypothermia
Gait disturbance, Hypothermia, Reduced consciousness/confusion, Ataxia ORPHA:29822
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Hypertaurinemia, Failure to thrive, Hypothermia, Hyperglycinemia OMIM:245400
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Autoerythrocyte Sensitization Syndrome
Thrombocytosis, Impaired platelet adhesion, Joint hemorrhage, Autoimmune thrombocytopenia, Gastro... ORPHA:324636
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Thick eyebrow, Generalized hirsutism ORPHA:2222
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Lethargy, Ataxia, Confusion, Paroxysmal lethargy OMIM:606777
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia, Recurrent bacterial infections OMIM:610738
Waardenburg Syndrome, Type 4A
Heterochromia iridis, Premature graying of hair, White eyebrow, White eyelashes, White forelock, ... OMIM:277580
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Elevated circulating creatine kinase concentration, Hyperammonemia, Lethargy, Gait imbalance OMIM:618120
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Gaucher Disease Type 1
Increased circulating antibody level, Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hyper... ORPHA:77259
Igg4-Related Aortitis
Increased circulating IgE level, Increased circulating antibody level, Increased circulating IgG4... ORPHA:449400
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Increased circulating IgM level, Increased circulating IgE level, Decreased proportion of CD8-pos... OMIM:617241
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Cyclic Neutropenia
Recurrent tonsillitis, Decreased eosinophil count, Lymphopenia, Tooth abscess, Cyclic neutropenia... ORPHA:2686
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Pancytopenia, Thrombocytopenia, Acute myeloid leukemia,... OMIM:260400
Hemochromatosis Type 2
Increased circulating ferritin concentration, Lethargy, Abnormality of iron homeostasis, Elevated... ORPHA:79230
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Glycerol Kinase Deficiency
Coma, Lethargy, Hypertriglyceridemia, Small for gestational age, Loss of consciousness OMIM:307030
Focal Myositis
Elevated circulating creatine kinase concentration, Fever, Weight loss ORPHA:48918
Pelger-Huet Anomaly
Abnormality of neutrophils, Recurrent otitis media, Hyposegmentation of neutrophil nuclei, Neutro... OMIM:169400
Carnitine-Acylcarnitine Translocase Deficiency
Decreased plasma carnitine, Coma, Lethargy, Elevated creatine kinase after exercise, Elevated cir... ORPHA:159
Selective Igm Deficiency
Cutaneous abscess, Decreased specific antibody response to vaccination, Recurrent urinary tract i... ORPHA:331235
Lig4 Syndrome
Thrombocytopenia, Pancytopenia, Failure to thrive OMIM:606593
Proteasome-Associated Autoinflammatory Syndrome 3
Increased circulating antibody level, Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Spleno... OMIM:617591
Alpha-Mannosidosis, Adult Form
Recurrent gastroenteritis, Ataxia, Confusion, Drowsiness, Pancytopenia, Recurrent infections, Hep... ORPHA:309288
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Lethargy, Overweight, Small for gestational age, Increased circula... ORPHA:26793
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Cutaneous anergy, T lymphocytopenia, Absent natural killer cells, Recurrent upper respiratory tra... OMIM:600802
Oculocerebral Hypopigmentation Syndrome Of Preus
Hypochromic anemia, Generalized hypopigmentation OMIM:257790
Urocanase Deficiency
Blue irides, Fair hair OMIM:276880
Thymoma
Hemolytic anemia, Decreased circulating antibody level, Abnormal lymphocyte morphology, Pancytope... ORPHA:99867
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Iris hypopigmentation, Hypopigmentation of hair, Giant... OMIM:214500
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive, Hyperactivity OMIM:274270
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Lymphopenia, Recurrent sinusitis, Neutropenia, Anemia, Increased mea... OMIM:618849
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent opportunistic infections, T lymphocytopenia, Absent natural killer cells, Chronic oral ... ORPHA:35078
Herpes Simplex Virus Encephalitis
Coma, Leukocytosis, Excessive daytime somnolence, Hyponatremia, Reduced consciousness/confusion, ... ORPHA:1930
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Coma, Lethargy, Decreased plasma total carnitine, Ataxia, Cachexia, Elevated circulating creatine... ORPHA:42
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Episodic ataxia, Lethargy, Hyperglutaminemia, Ataxia, Failure to thr... OMIM:311250
Mevalonic Aciduria
Leukocytosis, Fluctuating splenomegaly, Ataxia, Failure to thrive in infancy, Thrombocytopenia, P... OMIM:610377
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Iron deficiency anemia, Hypocalcemia, Reduced proportion of CD4-negative, CD8-negative, alpha-bet... ORPHA:37042
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypothermia, Lethargy OMIM:610006
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Megaloblastic anemia, Neutropenia, Recurrent infections, Failure to thrive, Elevated ci... ORPHA:79284
Autosomal Recessive Dopa-Responsive Dystonia
Lethargy, Gait ataxia, Ataxia, Bradykinesia, Oculogyric crisis, Generalized dystonia, Focal dysto... ORPHA:101150
Dyskeratosis Congenita, Autosomal Dominant 3
Ataxia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity OMIM:613990
Immunodeficiency, Common Variable, 2
Recurrent pneumonia, Recurrent bronchitis, Partial absence of specific antibody response to uncon... OMIM:240500
Carnitine Deficiency, Systemic Primary
Decreased plasma carnitine, Coma, Lethargy, Excessive daytime somnolence, Confusion, Failure to t... OMIM:212140
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Delirium, Lethargy, Megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Hypomethioninemi... ORPHA:79282
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Hermansky-Pudlak Syndrome 4
Abnormal bleeding, Bruising susceptibility, Epistaxis, Menorrhagia, Abnormal platelet granules OMIM:614073
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Dystonia, Hepatosplenomegaly OMIM:610329
Vici Syndrome
Cutaneous anergy, Recurrent fungal infections, Abnormal posturing, Decreased proportion of CD4-po... OMIM:242840
Tuberculosis
Fever, Weight loss ORPHA:3389
Wiskott-Aldrich Syndrome
Chronic leukemia, Intracranial hemorrhage, Neutropenia, Anemia, Acute leukemia, Purpura, Epistaxi... ORPHA:906
Transaldolase Deficiency
Pancytopenia, Thrombocytopenia, Small for gestational age, Anemia, Splenomegaly, Failure to thriv... OMIM:606003
Gaucher Disease Type 3
Increased circulating antibody level, Gait disturbance, Ataxia, Pancytopenia, Thrombocytopenia, A... ORPHA:77261
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Coma, Hypoargininemia, Lethargy, Ataxia, Failure to thrive, Hyperammonemia... OMIM:237300
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Alopecia OMIM:616353
Multicentric Reticulohistiocytosis
Histiocytosis, Fever, Cachexia ORPHA:139436
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Dystonia, Ataxia OMIM:617341
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Hereditary Central Diabetes Insipidus
Fever, Lethargy, Weight loss ORPHA:30925
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Lethargy, Ataxia OMIM:618224
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Failure to thrive in infancy, Pancytopenia, Decreased circulating IgA level, Hypersplenism, Splen... OMIM:613385
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Leukocytosis, Increased circulating IgA level, Failure to thrive... OMIM:617099
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Citrullinemia Type Ii