banner
Genes Phenotypes Help, News, Blog

Gene: Rab27a MGI:1861441

Log in to follow

Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal retina inner nuclear layer morphology Rab27aem1(IMPC)Bay HOM Early adult 1.21×10-05
abnormal coat/hair pigmentation Rab27aem1(IMPC)Bay HOM Early adult 1.86×10-18
increased cornea thickness Rab27aem1(IMPC)Bay HOM Early adult 4.32×10-05
limb grasping Rab27aem1(IMPC)Bay HOM   Early adult 6.03×10-07

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
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.

Eye Morphology

VIP of left eye

15 Images

View images
Eye Morphology

VIP of right eye

15 Images

View images
Eye Morphology

VIP of left fundus

15 Images

View images
Eye Morphology

VIP of right fundus

15 Images

View images

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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Griscelli Syndrome Type 2
Fever, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia ORPHA:79477

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Pos... 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, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega... OMIM:209050
Bleeding Disorder, Platelet-Type, 24
Abnormal bleeding, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platele... OMIM:619271
Glanzmann Thrombasthenia 2
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ... OMIM:619267
Platelet Signal Processing Defect
Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce... OMIM:173590
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggregation, Thromb... OMIM:124900
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Prolonged bleeding time, Giant platelets, Thrombocytopenia OMIM:608404
Bleeding Disorder, Platelet-Type, 11
Prolonged bleeding time, Epistaxis, Abnormal platelet count, Menorrhagia, Impaired collagen-induc... OMIM:614201
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre... OMIM:273800
Bleeding Disorder, Platelet-Type, 16
Abnormal bleeding, Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosi... OMIM:187800
Bleeding Disorder, Platelet-Type, 22
Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts OMIM:618462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Abnormal hemoglobin, Splenomegaly, Anemia, Abnormal platelet function, Thrombo... ORPHA:231393
Pseudo-Von Willebrand Disease
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Bleeding Disorder, Platelet-Type, 18
Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis... OMIM:615888
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Bernard-Soulier Syndrome
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble... OMIM:231200
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Glanzmann Thrombasthenia
Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ... ORPHA:849
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Prolonged bleeding time, Leukocyte inclusion bodies, Epistaxis, Impaired ADP-i... OMIM:155100
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg... 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
Neutrophil Immunodeficiency Syndrome
Leukocytosis, Abnormality of neutrophil physiology ORPHA:183707
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Von Willebrand Disease, Type 3
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha... OMIM:277480
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Men... OMIM:617443
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis, Bruising susceptibility... OMIM:614009
Thrombocytopenia With Beta-Thalassemia, X-Linked
Prolonged bleeding time, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Epi... OMIM:314050
Specific Granule Deficiency 1
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... OMIM:245480
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Prolonged bleeding time, Epistaxis, Acute monocytic leukemia, Bruising su... OMIM:601399
Gray Platelet Syndrome
Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist... OMIM:139090
Lymphoproliferative Syndrome, X-Linked, 1
Recurrent respiratory infections, Pancytopenia, Aplastic anemia, Dysgammaglobulinemia, Elevated c... OMIM:308240
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Immunodeficiency 69
Fever, Pancytopenia, Increased circulating ferritin concentration, Leukocytosis, Splenomegaly, BC... OMIM:618963
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Increased RBC distributi... OMIM:187900
Quebec Platelet Disorder
Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Thrombocytopenia, Impaired epi... OMIM:601709
Granulomatous disease with defect in neutrophil chemotaxis
Impaired neutrophil killing of staphylococci OMIM:233670
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Storage Pool Platelet Disease
Abnormal bleeding, Prolonged bleeding time, Decreased mean platelet volume, Acute leukemia OMIM:185050
Von Willebrand Disease
Abnormality of thrombocytes, Abnormal platelet function ORPHA:903
Von Willebrand Disease, X-Linked Form
Abnormal bleeding, Prolonged bleeding time OMIM:314560
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Petechiae, Epistaxis, Increased mean platelet volume, Splenomegaly, Thrombocyto... OMIM:153670
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Autoinflammation With Infantile Enterocolitis
Fever, Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Re... OMIM:616050
Lymphoproliferative Syndrome, X-Linked, 2
Fever, Recurrent respiratory infections, Pancytopenia, Hypertriglyceridemia, Aplastic anemia, Inc... OMIM:300635
Slc35A1-Cdg
Abnormal bleeding, Prolonged bleeding time, Subcutaneous hemorrhage, Giant platelets, Neutropenia... ORPHA:238459
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism, Neutropenia ORPHA:90023
Immunodeficiency 50
Recurrent respiratory infections, Recurrent urinary tract infections, Decreased circulating antib... OMIM:300988
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ... OMIM:614072
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Megaloblastic bone marrow, Decreased circulating antibody level, Decre... ORPHA:859
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Hypertriglyceridemia, Decreased lymphocyte proliferation in response to anti-CD3, S... OMIM:620282
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Immunodeficiency By Defective Expression Of Mhc Class Ii
Recurrent herpes, Abnormal CD4:CD8 ratio, Recurrent viral infections, Recurrent candida infection... ORPHA:572
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Thromboc... OMIM:613101
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Recurrent respiratory infections, Autoimmune thrombocytopenia, Sp... OMIM:614470
Bleeding Disorder, Platelet-Type, 12
Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili... OMIM:605735
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Hypopigmentation of the skin, Neutropenia OMIM:610798
Immunodeficiency 24
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Recurrent viral infections... OMIM:615897
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Tatsumi Factor Deficiency
Abnormal bleeding, Prolonged bleeding time OMIM:272650
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Agammaglobulinemia, Recurrent bacterial infections, Absent isohemaggl... OMIM:613501
Hermansky-Pudlak Syndrome 7
Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg... OMIM:614076
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Hemophagocytic Lymphohistiocytosis, Familial, 3
Fever, Hypertriglyceridemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagoc... OMIM:608898
Immunodeficiency 105
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Lymphopenia, Dec... OMIM:619924
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Immunodeficiency 46
Recurrent sinopulmonary infections, Chronic oral candidiasis, Intermittent thrombocytopenia, Seps... OMIM:616740
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... OMIM:300835
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Reduced delayed hypersensitivity, H... OMIM:607624
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Recurrent infections, Leukopenia, I... OMIM:615285
Agammaglobulinemia 8B, Autosomal Recessive
Pancytopenia, Failure to thrive, Splenomegaly, Decreased proportion of CD8-positive, alpha-beta T... OMIM:619824
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Thrombocytopenia, Splenomegaly, Weight loss, Leukop... ORPHA:507
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Abnormal number of granulocyte precursors, Neutropenia, Erythroid hyperplasia,... ORPHA:75564
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Recurrent respiratory infections, Bone marrow maturation arrest, Recurrent bacterial infections, ... OMIM:616022
Immunodeficiency 18
Recurrent respiratory infections, Defective T cell proliferation, Recurrent gastroenteritis, Recu... OMIM:615615
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormal retinal morphology, Cataract,... ORPHA:170
Ataxia-Pancytopenia Syndrome
Recurrent respiratory infections, Pancytopenia, Abnormal macrophage morphology, Abnormality of ne... ORPHA:2585
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Adult Idiopathic Neutropenia
Fever, Granulocytic hypoplasia, Bone marrow hypercellularity, Helicobacter pylori infection, Abno... ORPHA:2688
Lymphoproliferative Syndrome 2
Fever, Pancytopenia, Aplastic anemia, Splenomegaly, Severe varicella zoster infection, Recurrent ... OMIM:615122
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Anemia of inadequate production, Megaloblastic anemia, Recurrent... OMIM:617780
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Myh9-Related Disease
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Increased mean platelet volume, Giant ... ORPHA:182050
Whim Syndrome 1
Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Decrea... OMIM:193670
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery... OMIM:193400
Neutropenia, Chronic Familial
Increased circulating antibody level, Neutropenia OMIM:162700
Immunodeficiency, Common Variable, 13
Pancytopenia, Decreased circulating antibody level, Acute lymphoblastic leukemia, Recurrent bacte... OMIM:616873
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Recurrent viral infections, Recurrent candida infections, Increased circulating IgG level, T lymp... ORPHA:169154
Agammaglobulinemia 4, Autosomal Recessive
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... OMIM:613502
Immunodeficiency 32B
Fever, Recurrent respiratory infections, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomega... OMIM:226990
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Recurrent bacter... OMIM:202700
Agammaglobulinemia 7, Autosomal Recessive
Recurrent respiratory infections, Recurrent infections, Agammaglobulinemia, Neutropenia, Reduced ... OMIM:615214
Hermansky-Pudlak Syndrome 5
Prolonged bleeding time, Absent platelet dense granules, Epistaxis, Impaired ADP-induced platelet... OMIM:614074
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Failure to thrive, Reduced natural ki... OMIM:300400
Pseudoxanthomatous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis ORPHA:280794
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Recurrent respir... OMIM:618986
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... OMIM:619374
Hemophagocytic Lymphohistiocytosis, Familial, 4
Fever, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Sple... OMIM:603552
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Fever, Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactiv... ORPHA:158057
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Hermansky-Pudlak Syndrome 6
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,... OMIM:614075
Agammaglobulinemia 10, Autosomal Dominant
Recurrent respiratory infections, Transient neutropenia, Agammaglobulinemia, Decreased circulatin... OMIM:619707
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Essential Thrombocythemia
Prolonged bleeding time, Abnormality of thrombocytes, Splenomegaly, Abnormal platelet morphology,... ORPHA:3318
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Bernard-Soulier Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Impaired ristoc... ORPHA:274
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Megakaryocyte dysplasia, Anemia, Increased mean corpuscular... OMIM:619041
Wiskott-Aldrich Syndrome 2
Reduced natural killer cell activity, Decreased proportion of CD8-positive T cells, Recurrent inf... OMIM:614493
Acute Erythroid Leukemia
Bone marrow hypercellularity, Pancytopenia, Erythroid hypoplasia, Leukopenia, Bone marrow hypocel... ORPHA:318
Amegakaryocytic Thrombocytopenia, Congenital, 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Hemophagocytic Syndrome Associated With An Infection
Opportunistic bacterial infection, Neutropenia, Abnormal cytokine signaling, Severe cytomegalovir... ORPHA:158048
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Candida esophagitis, Reduced natural killer cell activity, Leukocytosis, Recurrent ... OMIM:619281
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Autoimmune hemolytic anemia, Re... OMIM:615559
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Epistaxis, Increased mean platelet volume OMIM:615193
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Immunodeficiency 20
Recurrent respiratory infections, Recurrent oral herpes, Reduced natural killer cell activity, Se... OMIM:615707
Whim Syndrome 2
Myelokathexis, Severe infection, Recurrent gingivitis, Chronic neutropenia OMIM:619407
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks, Eosinophilia OMIM:614323
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Recurrent infections, Bone marrow maturation arrest, Neutropenia OMIM:617014
Immunodeficiency 60 And Autoimmunity
Fever, Recurrent sinopulmonary infections, Pancytopenia, Splenomegaly, Decreased circulating tota... OMIM:618394
Transcobalamin Ii Deficiency
Macrocytic anemia, Pancytopenia, Failure to thrive, Erythroid hypoplasia, Reticulocytopenia, Mega... OMIM:275350
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Fever, Pancytopenia, Hypertriglyceridemia, Reduced natural killer cell activity, In... OMIM:603553
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Bleeding Disorder, Platelet-Type, 14
Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis OMIM:614158
Aregenerative Anemia
Fever, Pancytopenia, Erythroid hypoplasia, Abnormal bone marrow cell morphology, Reticulocytopeni... ORPHA:101096
Diamond-Blackfan Anemia 18
Granulocytic hypoplasia, Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Alopecia Totalis
Alopecia, Alopecia of scalp ORPHA:700
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Recurrent oral herpes, Persistent CMV viremia, Fluctuating splenomeg... OMIM:619220
Keratoconus 9
Keratoconus, Decreased corneal thickness OMIM:617928
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Reticular Dysgenesis
Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Decreased circulatin... ORPHA:33355
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Blue Rubber Bleb Nevus
Prolonged bleeding time, Intestinal bleeding, Microcytic anemia ORPHA:1059
Hermansky-Pudlak Syndrome 11
Epistaxis, Reduced platelet dense granules, Menorrhagia, Gingival bleeding, Impaired collagen-ind... OMIM:619172
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... OMIM:617585
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Factor V Deficiency
Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B... OMIM:227400
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Recurrent respiratory infections, Persistent CMV vi... OMIM:300853
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Combined Oxidative Phosphorylation Deficiency 34
Fever, Pancytopenia, Elevated circulating creatinine concentration, Increased blood urea nitrogen... OMIM:617872
Cernunnos-Xlf Deficiency
Recurrent viral infections, Thrombocytopenia, Decreased circulating antibody level, T lymphocytop... ORPHA:169079
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Maternal Uniparental Disomy Of Chromosome 1
Pancytopenia, Failure to thrive, Panhypogammaglobulinemia, Recurrent infections ORPHA:251009
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Immunodeficiency 102
Increased circulating interleukin 6 concentration, Severe varicella zoster infection, Sepsis, Leu... OMIM:301082
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Pancytopenia, Elevated circulating C-reactive protein concentration, Microcytic anemia, Hepatospl... OMIM:604416
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Hereditary Folate Malabsorption
Recurrent respiratory infections, Pancytopenia, Recurrent urinary tract infections, Eosinophilia,... ORPHA:90045
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Cyclic Neutropenia
Fever, Cyclic neutropenia OMIM:162800
Bare Lymphocyte Syndrome, Type Ii
Chronic lymphocytic meningitis, Recurrent urinary tract infections, Recurrent viral infections, R... OMIM:209920
Sitosterolemia 1
Abnormal bleeding, Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytos... OMIM:210250
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Malaria
Fever, Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombo... ORPHA:673
Isovaleric Acidemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Lethargy, Thrombocytopenia OMIM:243500
Immunodeficiency With Hyper-Igm, Type 1
Sepsis, Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Meningitis, Hemo... OMIM:308230
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent respiratory infections, Pancytopenia, Recurrent enteroviral infections, Abnormal lympho... ORPHA:79124
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Recurrent bacterial infections, Recurrent streptococcus pneumoniae infections, Recurrent staphylo... ORPHA:70592
Congenital Enterovirus Infection
Fever, Abnormal macrophage morphology, Hypothermia, Thrombocytopenia, Leukocytosis, Sepsis, Hyper... ORPHA:292
Trimethylaminuria
Splenomegaly, Recurrent pneumonia, Depression, Neutropenia, Anemia OMIM:602079
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Recurrent viral infections, Decreased proportion of CD3-positive T cells, ... ORPHA:331206
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... OMIM:617243
Immunodeficiency 21
Megakaryocyte nucleus hypolobulation, Aplastic anemia, Recurrent viral infections, B lymphocytope... OMIM:614172
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Thrombocytopenia 2
Increased megakaryocyte colony forming unit count, Leukocytosis, Thrombocytopenia OMIM:188000
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Decreased circulating IgG level, ... OMIM:619802
Mu-Heavy Chain Disease
Fever, Abnormal B cell count, Splenomegaly, Weight loss, Increased circulating antibody level, Ab... ORPHA:100024
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Fever, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Splenome... OMIM:618398
Immunodeficiency 27A
Fever, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Increased circulating IgG lev... OMIM:209950
Autoinflammatory-Pancytopenia Syndrome
Fever, Pancytopenia, Hepatosplenomegaly, Granuloma, Hemophagocytosis, Severe Epstein Barr virus i... OMIM:619858
Proteasome-Associated Autoinflammatory Syndrome 2
Fever, Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, Increased ... OMIM:618048
Primary Myelofibrosis
Fever, Bone marrow hypercellularity, Pancytopenia, Extramedullary hematopoiesis, Cachexia, Thromb... ORPHA:824
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Chronic oral candidiasis, Autoimmune hemolytic anemia, Pneumocystis jirovecii pneu... OMIM:301078
Immunodeficiency, Common Variable, 8, With Autoimmunity
Recurrent respiratory infections, Pancytopenia, Autoimmune hemolytic anemia, Failure to thrive, C... OMIM:614700
X-Linked Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Thrombocytopenia, Recurrent pneumonia, Sepsis, Weig... ORPHA:47
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Recurrent infections, Leukopenia, Neutropenia, Failure to... OMIM:229050
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Keratoconus 6
Keratoconus OMIM:614623
Keratoconus 5
Keratoconus OMIM:614622
Keratoconus 8
Keratoconus OMIM:614628
Keratoconus 7
Keratoconus OMIM:614629
Deafness-Lymphedema-Leukemia Syndrome
Prolonged bleeding time, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, I... ORPHA:3226
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Familial Hemophagocytic Lymphohistiocytosis
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Reduced natural k... ORPHA:540
Congenital Factor Ii Deficiency
Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part... ORPHA:325
Vitamin B12-Responsive Methylmalonic Acidemia
Anemia, Lethargy, Failure to thrive, Hyperammonemia ORPHA:28
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Sepsis, Hyperammonemia, Neutropenia, Lethargy, Anemia ORPHA:289916
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin pigmentati... ORPHA:79397
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating total IgM, Decreased circulating IgG level, Recurrent respiratory infection... ORPHA:2643
Primary Erythromelalgia
Recurrent respiratory infections, Leukemia, Abnormality of thrombocytes, Hypothermia ORPHA:90026
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Lethargy, Failure to thrive, Anemia ORPHA:79312
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Lethargy, Failure t... OMIM:606054
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:616435
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Increased circulating interleukin 6 concentration, Increased circulating IgE level, Inappropriate... OMIM:618944
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Elevated circulating creatine kinase concentration, Impaired T cell function, Splen... OMIM:614576
Prothrombin Deficiency, Congenital
Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno... OMIM:613679
Riboflavin Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Hypothermia OMIM:615026
Griscelli Syndrome Type 2
Fever, Pancytopenia, Splenomegaly, Hyperlipidemia, Hemophagocytosis, Neutropenia ORPHA:79477
Purine Nucleoside Phosphorylase Deficiency
Failure to thrive, Autoimmune hemolytic anemia, Recurrent urinary tract infections, Hypouricemia,... OMIM:613179
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Depression, Decreased body weight, Thrombocytopenia OMIM:231000
Bleeding Disorder, Platelet-Type, 19
Abnormal bleeding, Epistaxis, Thrombocytopenia, Macrothrombocytopenia, Spontaneous hematomas, Men... OMIM:616176
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Bone Marrow Failure Syndrome 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:614675
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Tremor, Optic atrophy, Premature graying... ORPHA:33445
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Sepsis, Lack of T cell function, Leukopenia... OMIM:267500
Immunodeficiency, Common Variable, 1
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Neutropenia in presence of anti-neut... OMIM:607594
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Pancytopenia, Small for gestational age, Megaloblastic anemia, Thrombocyt... OMIM:277380
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Fever, Acute myeloid leukemia, Anemia of inadequate p... ORPHA:86839
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... ORPHA:1067
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Prolonged bleeding time, Absent platelet dense granules, Albinism... OMIM:608233
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Immunodeficiency 16
Splenomegaly, Pancytopenia, Coombs-positive hemolytic anemia OMIM:615593
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... OMIM:614857
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Pancytopenia, Decreased circulating antibody level, Bone marrow hypocellularity, Abnormally low T... OMIM:619767
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Caspase 8 Deficiency
Recurrent sinopulmonary infections, Complete or near-complete absence of specific antibody respon... OMIM:607271
Macrophage Activation Syndrome
Fever, Increased circulating interleukin 6 concentration, Hypertriglyceridemia, Elevated circulat... ORPHA:158061
Mantle Cell Lymphoma
Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology ORPHA:52416
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... ORPHA:98969
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Recurrent pneumonia, Neu... OMIM:150550
Immunodeficiency 52
Decreased proportion of CD4-positive T cells, Failure to thrive, Persistent CMV viremia, Autoimmu... OMIM:617514
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Bone Marrow Failure Syndrome 4
Recurrent respiratory infections, Decreased circulating antibody level, Anemia, Leukopenia, Bone ... OMIM:618116
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Recurrent viral infections, Recurrent upper respiratory tract infect... OMIM:614868
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Recurrent infections, Anemia, Bone marrow hypocellularity, Neutr... ORPHA:88
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Megaloblastic bone marrow, Hyperhomocystinemi... ORPHA:2169
Hemochromatosis, Type 3
Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir... OMIM:604250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Autosomal Dominant Severe Congenital Neutropenia
Fever, Acute myeloid leukemia, Recurrent sinopulmonary infections, Aplastic anemia, Eosinophilia,... ORPHA:486
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Recurrent respiratory infections, Hypertriglyceridemia, ... OMIM:607616
Hermansky-Pudlak Syndrome 1
Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec... OMIM:203300
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Myelofibrosis, Pancytopenia, Bone marrow hypercellularity, Megakaryocyte ... ORPHA:86843
Mastocytosis, Cutaneous
Cutaneous mastocytosis, Hypermelanotic macule OMIM:154800
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Hypopigmentation of the skin OMIM:617294
Schimke Immunoosseous Dysplasia
Fever, Pancytopenia, Small for gestational age, Abnormal immunoglobulin level, Thrombocytopenia, ... OMIM:242900
Agammaglobulinemia 1, Autosomal Recessive
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... OMIM:601495
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Normo... OMIM:618775
Congenital Disorder Of Glycosylation, Type Iif
Subcutaneous hemorrhage, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, ... OMIM:603585
Acute Promyelocytic Leukemia
Fever, Bone marrow hypercellularity, Pancytopenia, Chronic infection, Thrombocytopenia, Leukocyto... ORPHA:520
Brittle Cornea Syndrome 2
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... OMIM:614170
Central Diabetes Insipidus
Hyponatremia, Fever, Weight loss, Depression, Lethargy, Failure to thrive ORPHA:178029
Specific Granule Deficiency 2
Absent neutrophil specific granules, Bone marrow maturation arrest, Recurrent pneumonia, Sepsis, ... OMIM:617475
Aggressive Systemic Mastocytosis
Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Weight loss, Inc... ORPHA:98850
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Methylmalonic acidemia, Hypomethioninemia, Normocytic anemia, Megaloblastic anemia, Hyperhomocyst... OMIM:236270
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Failure to thrive, Recurrent opportunistic infections, Increased circulating IgE level, Recurrent... ORPHA:277
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Lymphopenia, Increased circulating IgE level, Recurrent upper respiratory tract infections, Recur... OMIM:619752
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Chronic Intestinal Pseudoobstruction
Abnormal platelet morphology ORPHA:2978
Autosomal Agammaglobulinemia
Fever, Recurrent respiratory infections, Sepsis, Recurrent infections, Agammaglobulinemia, Neutro... ORPHA:33110
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Leukemia, Myeloid leukemia OMIM:614743
Immunodeficiency 91 And Hyperinflammation
Megakaryocytopenia, Neutrophilia, Elevated circulating C-reactive protein concentration, Thromboc... OMIM:619644
Hemophilia B
Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join... ORPHA:98879
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein
Recurrent bacterial infections, Abnormality of T cell physiology, Recurrent protozoan infections,... OMIM:308220
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251100
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Congenital Disorder Of Glycosylation, Type Iik
Failure to thrive, Elevated circulating creatine kinase concentration, Thrombocytopenia, Unexplai... OMIM:614727
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Pulmonary Blastoma
Fever, Recurrent pneumonia, Weight loss ORPHA:64741
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Megaloblastic bone marrow ORPHA:79283
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Chédiak-Higashi Syndrome
Recurrent staphylococcal infections, Vacuolated lymphocytes, Neutropenia, Abnormal natural killer... ORPHA:167
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Immunodeficiency 62
Recurrent herpes, Autoimmune thrombocytopenia, Severe recurrent varicella, Decreased proportion o... OMIM:618459
Shwachman-Diamond Syndrome
Normocytic anemia, Transient neutropenia, Aplastic anemia, Recurrent viral infections, Sepsis, Le... ORPHA:811
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Lethargy, Anemia ORPHA:27
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness, Red hair OMIM:229200
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Immunodeficiency 11A
Recurrent respiratory infections, Pneumocystis jirovecii pneumonia, Decreased proportion of CD4+C... OMIM:615206
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Idiopathic Achalasia
Decreased prealbumin level, Weight loss ORPHA:930
Dengue Fever
Fever, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:601859
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Megaloblastic bone marrow ORPHA:622
Pgm3-Cdg
Abnormal CD4:CD8 ratio, Recurrent viral infections, Sepsis, Increased circulating IgG level, Leuk... ORPHA:443811
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Immunodeficiency, Common Variable, 12, With Autoimmunity
Recurrent sinopulmonary infections, Autoimmune hemolytic anemia, Recurrent pneumonia, Decreased c... OMIM:616576
Ebola Hemorrhagic Fever
Fever, Sepsis, Leukopenia, Increased circulating antibody level, Lethargy, Lymphopenia, Thrombocy... ORPHA:319218
Immunodeficiency 22
Fever, Failure to thrive, Abscess, Thrombocytopenia, Recurrent upper respiratory tract infections... OMIM:615758
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Iron deficiency anemia, Impaired platelet aggregation OMIM:618372
Idiopathic Congenital Hypothyroidism
Lethargy, Neonatal hyperbilirubinemia, Hypothermia ORPHA:95717
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Lethargy, Failu... OMIM:251000
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Severe infection, Increased circulating IgE level, Ane... OMIM:304790
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Neurofibromatosis-Noonan Syndrome
Multiple cafe-au-lait spots, Prolonged bleeding time, Cryptorchidism ORPHA:638
Wolfram Syndrome 2
Abnormal bleeding, Decreased circulating antibody level, Impaired collagen-induced platelet aggre... OMIM:604928
Chloramphenicol Toxicity
Aplastic anemia OMIM:515000
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Epistaxis, Thrombocytopenia OMIM:613554
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Meningococcal Meningitis
Fever, Hypothermia, Elevated circulating C-reactive protein concentration, Sepsis, Lethargy, Infe... ORPHA:33475
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation OMIM:188150
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Decreased proportion of class-switched memory B cells, Agammaglobulinemia, Decreased circulating ... OMIM:619705
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Elevated circulating creatinine concentration, Recurrent infections, Hyperuricemia, Neutropenia, ... OMIM:617056
Thymoma
Fever, Aplastic anemia, Pure red cell aplasia, Abnormal lymphocyte proliferation, Abnormal lympho... ORPHA:99867
Necrotizing Enterocolitis
Hyponatremia, Neonatal sepsis, Small for gestational age, Leukocytosis, Neutropenia, Lethargy, Te... ORPHA:391673
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Pancytopenia OMIM:600546
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... OMIM:615688
Staphylococcal Necrotizing Pneumonia
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe ... ORPHA:36238
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Megaloblastic bone marrow ORPHA:26
Agammaglobulinemia 9, Autosomal Recessive
Agammaglobulinemia, Recurrent bacterial infections, Absent circulating B cells, Failure to thrive... OMIM:619693
Vogt-Koyanagi-Harada Disease
Retinal detachment, Sparse scalp hair, Abnormal eyebrow morphology, Cataract, Poliosis, Abnormal ... ORPHA:3437
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Premature graying of hair, Heterochromia iridis ORPHA:66633
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Fanconi-Like Syndrome
Recurrent lower respiratory tract infections, Pancytopenia OMIM:227850
Eosinophilia, Familial
Recurrent bronchitis, Eosinophilia, Thrombocytopenia, Leukocytosis, Anemia OMIM:131400
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Immunodeficiency 67
Transient neutropenia, Liver abscess, Recurrent staphylococcal infections, Increased circulating ... OMIM:607676
Hemochromatosis, Type 2A
Splenomegaly, Increased circulating ferritin concentration, Increased serum iron, Lethargy OMIM:602390
Felty Syndrome
Recurrent respiratory infections, Recurrent urinary tract infections, Splenomegaly, Recurrent pha... ORPHA:47612
Bullous Diffuse Cutaneous Mastocytosis
Cutaneous mastocytosis, Profuse pigmented skin lesions ORPHA:280785
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
3-Hydroxy-3-Methylglutaric Aciduria
Fever, Hypothermia, Leukocytosis, Hyperammonemia, Weight loss, Leukopenia, Lethargy, Hyperuricemi... ORPHA:20
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:89838
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal... OMIM:611590
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Recurrent opportunistic infections, Bone marrow hypocellularity, Thrombocytopenia OMIM:613987
Spherocytosis, Type 5
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... OMIM:612690
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmu... OMIM:619846
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Weight loss, Anemia, Thrombocytopenia ORPHA:517
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... OMIM:618534
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Fever, Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concen... ORPHA:54251
Immunodeficiency 23
Hemolytic anemia, Recurrent respiratory infections, Failure to thrive, Abscess, Eosinophilia, Rec... OMIM:615816
Agammaglobulinemia, X-Linked
Sepsis, T lymphocytopenia, Decreased circulating IgE, Neutropenia, Decreased circulating IgG leve... OMIM:300755
Familial Thyroid Dyshormonogenesis
Lethargy, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:95716
N-Acetylglutamate Synthase Deficiency
Lethargy, Failure to thrive, Hyperglutamatemia, Hyperammonemia OMIM:237310
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Failure to thrive, Small for gestational age, Thrombocytopeni... OMIM:557000
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Acute myeloid leukemia, Bone marrow hypercellularity, Macrocytic anemia, Megakaryocyte nucleus hy... ORPHA:86841
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Lethargy, Hyperammonemia, Weight loss ORPHA:79242
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Myeloid leukemia, Anemia OMIM:614742
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Immunodeficiency 7
Recurrent respiratory infections, Autoimmune hemolytic anemia, Chronic oral candidiasis, Splenome... OMIM:615387
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Neutropenia, Failure to t... OMIM:613989
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Increased circulating IgA level OMIM:314000
Hermansky-Pudlak Syndrome 8
Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble... OMIM:614077
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Lethargy, Failure to thrive ORPHA:26792
Neutropenia, Severe Congenital, X-Linked
Recurrent bacterial infections, Neutropenia, Monocytopenia, Decreased CD4:CD8 ratio, Bone marrow ... OMIM:300299
Spinocerebellar Ataxia, Autosomal Recessive 23
Hyponatremia, Neutropenia OMIM:616949
Glutaric Acidemia Type 3
Elevated circulating glutaric acid concentration, Failure to thrive, Lethargy, Abnormality of cir... ORPHA:35706
Lymphedema, Primary, With Myelodysplasia
Acute myeloid leukemia, Pancytopenia, Decreased CD4:CD8 ratio, Leukemia OMIM:614038
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:615715
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hypothermia, Splenomegaly, Hypoalbuminemia,... OMIM:251880
Obesity And Hypopigmentation
Red hair OMIM:620195
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Glycine Encephalopathy 1
Lethargy, Hyperglycinemia OMIM:605899
Sea-Blue Histiocytosis
Hyperpigmentation of the skin, Splenomegaly, Sea-blue histiocytosis, Hypopigmentation of the skin... ORPHA:158029
Sepsis In Premature Infants
Fever, Neonatal sepsis, Increased circulating interleukin 6 concentration, Disseminated viral inf... ORPHA:90051
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Bone Marrow Failure And Diabetes Mellitus Syndrome
Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias OMIM:620044
Primary Intestinal Lymphangiectasia
Lymphopenia, Cryptococcal meningitis, Decreased circulating antibody level, Weight loss, Decrease... ORPHA:90362
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Anemia, Abnormal circulating creatine kinase co... OMIM:615838
Combined Oxidative Phosphorylation Deficiency 52
Elevated circulating creatine kinase concentration, Hyperamylasemia, Hyperglycinemia, Hyperalanin... OMIM:619386
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Internal hemorrhage, Microcytic anemia ORPHA:90308
Aplastic Anemia
Aplastic anemia, Bone marrow hypocellularity OMIM:609135
Isolated Agammaglobulinemia
Fever, Recurrent cutaneous abscess formation, Recurrent respiratory infections, Failure to thrive... ORPHA:229717
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... OMIM:603909
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Small for gestational age, Failure to thrive in infancy, Decreased proportion of CD8-positive T c... OMIM:617241
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule ORPHA:69125
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Thrombocytosis, Epistaxis, Impaired platelet adhesion, Autoimmune th... ORPHA:324636
Idiopathic Chronic Eosinophilic Pneumonia
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Increased circulating... ORPHA:2902
Preeclampsia
Helicobacter pylori infection, Increased body mass index, Small for gestational age, Elevated cir... ORPHA:275555
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Failure to thrive, Hyperglycinemia, Hypothermia, Hypertaurinemia OMIM:245400
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Recurrent bacterial infections, Neutropenia OMIM:610738
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Small for gestational age, Elevated circulating creatine kinase concentration, Hypothermia, Incre... ORPHA:26793
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia OMIM:266130
Gaucher Disease Type 1
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Increased circulating antibody lev... ORPHA:77259
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Bone marrow hypocellularity, Recu... OMIM:618849
Babesiosis
Fever, Hemolytic anemia, Splenomegaly, Recurrent pharyngitis, Depression, Recurrent infections, L... ORPHA:108
Immunodeficiency, Common Variable, 2
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Recurrent bacterial infections, Recu... OMIM:240500
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Failure to thrive, Thrombocytopenia OMIM:259700
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia, Recurrent fever OMIM:614979
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Recurrent viral infections, Splenomegaly, Thrombocytopeni... OMIM:603554
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Hypothermia OMIM:614654
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Igg4-Related Aortitis
Fever, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentration, I... ORPHA:449400
Marburg Hemorrhagic Fever
Fever, Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamy... ORPHA:99826
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Vici Syndrome
Decreased circulating IgG level, Lymphopenia, Recurrent respiratory infections, Failure to thrive... OMIM:242840
Hatipoglu Immunodeficiency Syndrome
Pancytopenia, Recurrent herpes, Recurrent bronchitis, Recurrent infections, Recurrent fever, Recu... OMIM:620331
Neonatal Alloimmune Neutropenia
Fever, Severe infection, Sepsis, Neutropenia in presence of anti-neutropil antibodies, Temperatur... ORPHA:464370
Selective Igm Deficiency
Recurrent herpes, Recurrent staphylococcal infections, Severe varicella zoster infection, Parapro... ORPHA:331235
Wolcott-Rallison Syndrome
Hyponatremia, Fever, Hyperammonemia, Recurrent infections, Iron deficiency anemia, Hypoalbuminemi... ORPHA:1667
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Small for gestational age, Impaired T cell function, Abnormal lymphocyte physi... ORPHA:1830
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Impaired T cell function, Splenomegaly, Recurrent candida infections, Decreased serum zinc, Letha... OMIM:201100
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Hypothermia OMIM:610006
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Hjv Or Hamp-Related Hemochromatosis
Increased circulating ferritin concentration, Elevated transferrin saturation, Lethargy, Abnormal... ORPHA:79230
Hyperlysinuria With Hyperammonemia
Lethargy, Hyperlysinemia, Hyperammonemia OMIM:238750
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Hypoplasia of the thy... ORPHA:906
Focal Myositis
Fever, Elevated circulating creatine kinase concentration, Weight loss ORPHA:48918
Mucopolysaccharidosis-Plus Syndrome
Recurrent respiratory infections, Thrombocytopenia, Splenomegaly, Recurrent bronchopulmonary infe... OMIM:617303
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Thrombocytopenia, Severe infection, Recurrent tonsillitis, ... ORPHA:2686
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Sepsis, Recurrent candida infections, T lymphocytopenia, H... ORPHA:83471
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Systemic Lupus Erythematosus 17
Fever, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Lymphopenia, Recurrent fever OMIM:301080
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Forsythe-Wakeling Syndrome
Thrombocytopenia, Decreased body weight OMIM:613606
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Thrombotic Thrombocytopenic Purpura
Fever, Reticulocytosis, Microangiopathic hemolytic anemia, Decreased serum creatinine, Thrombocyt... ORPHA:54057
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia, Granulocytic hyperplasia OMIM:162830
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Rhabdoid Tumor
Fever, Hypercalcemia, Weight loss, Anemia, Thrombocytopenia ORPHA:69077
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Pancytopenia, Bone marrow hypocellularity, Abnormally low T cell receptor excision circle level OMIM:617341
Tularemia
Fever, Brain abscess, Thrombocytopenia, Leukocytosis, Increased circulating antibody level, Menin... ORPHA:3392
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Sideroblastic anemia, Failure to thrive, Lethargy OMIM:613561
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Megaloblastic anemia, Elevated circulating palmitoleylcarnitine concentration,... ORPHA:79284
Wiskott-Aldrich Syndrome
Recurrent herpes, Abnormal delayed hypersensitivity skin test, Sepsis, Iron deficiency anemia, Ab... OMIM:301000
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Recurrent infections, Pe... OMIM:617052
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Lethargy ORPHA:71277
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr... ORPHA:352731
Griscelli Syndrome
Fever, Abnormality of neutrophils, Splenomegaly, Decreased circulating antibody level, Leukopenia... ORPHA:381
Bangstad Syndrome
Pancytopenia, Small for gestational age OMIM:210740
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Small for gestational age, Recurrent infections, Persistenc... OMIM:260400
Trichothiodystrophy 3, Photosensitive
Lymphopenia, Increased circulating IgA level, Recurrent infections, Neutropenia, Failure to thrive OMIM:616395
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Recurrent respiratory infections, Autoimmune hemolytic anemia, Failure to thrive in infancy, Cach... ORPHA:37042
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Decreased circulating free fatty acid level... ORPHA:324575
Neuroleptic Malignant Syndrome
Hyponatremia, Fever, Elevated circulating creatine kinase concentration, Hypothermia, Leukocytosi... ORPHA:94093
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly, Recurrent infections, In... OMIM:617591
Immunodeficiency 40
Severe varicella zoster infection, Recurrent pneumonia, Eosinophilic granuloma, T lymphocytopenia... OMIM:616433
Lig4 Syndrome
Recurrent respiratory infections, Pancytopenia, Small for gestational age, Acute lymphoblastic le... OMIM:606593
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hypopigmentation of hair, Abnormal dense granules, Sil... OMIM:214500
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... OMIM:600802
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Carnitine-Acylcarnitine Translocase Deficiency
Hypothermia, Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulat... ORPHA:159
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Relapsing Fever
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leu... ORPHA:91547
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Recurrent respiratory infections, Pancytopenia, Failure to thrive in infancy, Hypersplenism, Sple... OMIM:613385
Hyperinsulinism Due To Ucp2 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276556
Griscelli Syndrome Type 1
Partial albinism, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation ORPHA:79476
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:618120
Autoinflammatory Disease, Systemic, X-Linked
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:301081
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Petechiae, Decreased mean platelet volume OMIM:273900
Dihydropyrimidinase Deficiency
Elevated circulating uracil concentration, Lethargy, Elevated circulating thymine concentration, ... OMIM:222748
Hereditary Central Diabetes Insipidus
Fever, Lethargy, Weight loss ORPHA:30925
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Tuberculosis
Fever, Weight loss ORPHA:3389
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... ORPHA:35078
Laryngeal Neuroendocrine Tumor
Elevated carcinoembryonic antigen level, Weight loss ORPHA:100083
Developmental And Epileptic Encephalopathy 40
Lethargy, Small for gestational age OMIM:617065
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Pneumocystosis
Fever, Pneumocystis jirovecii pneumonia, Abnormal neutrophil count, Weight loss, Increased circul... ORPHA:723
Multicentric Reticulohistiocytosis
Fever, Cachexia, Histiocytosis ORPHA:139436
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Drug-Induced Lupus Erythematosus
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... ORPHA:231111
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Coenzyme Q10 Deficiency, Primary, 1
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia OMIM:607426
Aicardi-Goutieres Syndrome 7
Fever, Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Thrombocytop... OMIM:615846
Menkes Disease
Decreased circulating ceruloplasmin concentration, Hypothermia OMIM:309400
Early Myoclonic Encephalopathy
Lethargy, Recurrent respiratory infections ORPHA:1935
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Decreased circulating free fatty acid level, Lethargy, Large for gestational age, Increased C-pep... ORPHA:276575
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Bone marrow hypocellularity, Thrombocytopenia, Hepa... ORPHA:210136
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Large for gestational age, Anemia, Bone marrow hypocellularity, Neutropenia, Failure to thrive, T... OMIM:614520
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy, Failure to thrive OMIM:274270
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Failure to thrive in infancy, Elevated circulating C-reactive protein concentration... OMIM:617099
Cryptogenic Organizing Pneumonia
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight ... ORPHA:1302
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Evans Syndrome
Lethargy, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Auto... ORPHA:1959
Alpha-Mannosidosis, Adult Form
Pancytopenia, Depression, Recurrent infections, Hepatosplenomegaly, Recurrent gastroenteritis ORPHA:309288
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Throm... OMIM:619151
X-Linked Severe Congenital Neutropenia
Monocytopenia, Recurrent bacterial infections, Neutropenia ORPHA:86788
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Transaldolase Deficiency
Pancytopenia, Small for gestational age, Splenomegaly, Hepatosplenomegaly, Anemia, Failure to thr... OMIM:606003
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Re... ORPHA:436159
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Hypothermia, Megaloblastic anemia, Hyperammonemia, Ele... ORPHA:79282
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Dyskeratosis Congenita, Autosomal Dominant 6
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity OMIM:616553
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Pyruvate Dehydrogenase E3 Deficiency
Elevated circulating branched chain amino acid concentration, Hyperammonemia, Hyperisoleucinemia,... ORPHA:2394
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Hypercalcemia, Weight loss OMIM:143880
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy, Herpes simplex encephalitis, Meningitis OMIM:617900
Insulin Autoimmune Syndrome
Increased circulating antibody level, Weight loss ORPHA:411593
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Hyperalaninemia, Small for gestational age, Lethargy OMIM:312170
Aspergillosis
Fever, Eosinophilia, Increased circulating IgE level, Unusual CNS infection, Invasive pulmonary a... ORPHA:1163
Idiopathic Trachyonychia
Ridged nail, Thin nail, Concave nail, Autoimmune thrombocytopenia, Nail pits, Patchy alopecia, Na... ORPHA:79153
Dihydrolipoamide Dehydrogenase Deficiency
Increased serum pyruvate, Lethargy OMIM:246900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Cachexia, Hyperammonemia, Decreased plasma to... ORPHA:42
Atelis Syndrome 1
Decreased lymphocyte proliferation in response to anti-CD3, Recurrent infections, Anemia, Leukope... OMIM:620184
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Lethargy, Failure to thrive in infancy, Hyperprolinemia OMIM:619064
Brittle Cornea Syndrome
Retinal detachment, Corneal dystrophy, Corneal erosion, Abnormality of hair pigmentation, Corneal... ORPHA:90354
Ataxia-Telangiectasia
Lymphopenia, Hypopigmentation of hair, Polycystic ovaries, Premature graying of hair, Decreased c... ORPHA:100
Genetic Transient Congenital Hypothyroidism
Lethargy, Increased circulating thyroglobulin level, Hypothermia ORPHA:226316
Boutonneuse Fever
Fever, Increased circulating IgG level, Increased circulating IgM level, Leukopenia, Thrombocytop... ORPHA:83313
Lysinuric Protein Intolerance
Bone marrow hypercellularity, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Abno... ORPHA:470
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Large for gestational age, Increased C-peptide level ORPHA:276580
Timothy Syndrome
Hypocalcemia, Hypothermia, Recurrent infections OMIM:601005
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy, Recurrent fever, Hyperphenylalaninemia OMIM:233910
Mevalonic Aciduria
Normocytic hypoplastic anemia, Failure to thrive, Failure to thrive in infancy, Elevated circulat... OMIM:610377
Dystonia 31
Abnormal posturing, Depression OMIM:619565
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:613990
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fever, Splenomegaly, Weight loss, Abnormal bone marrow cell morphology ORPHA:86893
Beta-Thalassemia
Abnormality of temperature regulation, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, ... ORPHA:848
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:600649
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy, Herpes simplex encephalitis, Meningitis OMIM:613002
Isolated Thyroid-Stimulating Hormone Deficiency
Failure to thrive, Hypothermia, Depression, Hypercholesterolemia, Abnormal circulating thyroglobu... ORPHA:90674
Poikiloderma With Neutropenia
Elevated circulating creatine kinase concentration, Splenomegaly, Recurrent bronchopulmonary infe... OMIM:604173
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Se... ORPHA:199299
Cog4-Cdg
Neonatal sepsis, Failure to thrive in infancy, Recurrent upper respiratory tract infections, Hepa... ORPHA:263501
Necrobiosis Lipoidica
Granuloma, Abnormality of neutrophil physiology ORPHA:542592
Febrile Infection-Related Epilepsy Syndrome
Fever, Lethargy ORPHA:163703
Mitochondrial Complex I Deficiency, Nuclear Type 4
Increased serum pyruvate, Lethargy OMIM:618225
Fanconi Anemia, Complementation Group C
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227645
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Spotty hyperpigmentation, Generalized hypopigmentation, Hyperpigmentation of the skin, Generalize... ORPHA:158681
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Pituitary hypothy... ORPHA:71526
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Low plasma citrulline, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive... OMIM:237300
Fanconi Anemia, Complementation Group E
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Carnitine Deficiency, Systemic Primary
Lethargy, Failure to thrive, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212140
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent upper respiratory tract infec... OMIM:615952
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Weight loss, H... ORPHA:2070
Mitochondrial Complex I Deficiency, Nuclear Type 33
Small for gestational age, Hyperammonemia, Neutropenia OMIM:618253
Diamond-Blackfan Anemia 8
Macrocytic anemia, Increased mean corpuscular volume, Neutropenia OMIM:612563
Acquired Purpura Fulminans
Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage, Thromb... ORPHA:49566
Whim Syndrome
Bone marrow hypercellularity, Myelokathexis, Recurrent upper respiratory tract infections, Recurr... ORPHA:51636
Prolidase Deficiency
Splenomegaly, Recurrent pneumonia, Recurrent infections, Anemia, Increased circulating antibody l... OMIM:170100
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Dyskeratosis Congenita, Autosomal Recessive 3
Pancytopenia, Bone marrow hypocellularity OMIM:613988
Sabinas Brittle Hair Syndrome
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair OMIM:211390
Fanconi Anemia, Complementation Group A
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Thrombocytopenia, ... OMIM:617021
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypothermia ORPHA:90673
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... ORPHA:398063
Diffuse Alveolar Hemorrhage
Fever, Leukocytosis, Elevated circulating creatinine concentration, Weight loss, Anemia, Thromboc... ORPHA:90060
Avian Influenza
Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protei... ORPHA:454836
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Acute hyperammonemia, Hyperglutaminemia, Hyperammonemia, Hyperalaninemia, Failure to thrive, Leth... ORPHA:927
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Fever, Recurrent respiratory infections, Increased circulating interleukin 6 concentration, Eleva... OMIM:301074
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulat... ORPHA:79329
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Livedoid Vasculopathy
Pancytopenia, Leukocytosis, Hyperhomocystinemia, Abnormal circulating lipid concentration, Polycy... ORPHA:542643
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Gaucher Disease Type 3
Recurrent respiratory infections, Pancytopenia, Splenomegaly, Anemia, Increased circulating antib... ORPHA:77261
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Small for gestational age, Recurrent upper respiratory tract infections, Recur... OMIM:607143
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Neonatal sepsis, Recurrent respiratory infections, Recurrent urinary tract infections, Failure to... OMIM:612541
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Recurrent fever, Congenital thrombocy... OMIM:618886
T-Cell Immunodeficiency With Thymic Aplasia
Failure to thrive, Aplasia of the thymus, Recurrent viral infections, Recurrent bronchopulmonary ... OMIM:242700
Systemic Mastocytosis With Associated Hematologic Neoplasm
Fever, Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Bone marrow hypercellularity, Eos... ORPHA:98849
Citrullinemia Type I
Elevated plasma citrulline, Lethargy, Failure to thrive, Hyperammonemia ORPHA:247525
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Megakaryocyte dysplasia, Thrombocytopenia, Recurrent upper respiratory tract infections, Reticulo... ORPHA:508542
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Bone marrow hypocellularity, Thrombocytopenia OMIM:224230
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Dyskeratosis Congenita, Autosomal Recessive 8
Pancytopenia, Reduced natural killer cell count, B lymphocytopenia, Bone marrow hypocellularity OMIM:620133
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Sparse scalp hair, Generalized hyperpigmentation, Thrombocytopenia... ORPHA:3322
Chronic Myeloid Leukemia
Fever, Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, ... ORPHA:521
Adult-Onset Still Disease
Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocy... ORPHA:829
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy OMIM:618224
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto... ORPHA:2785
Thrombocytopenia 1
Epistaxis, Increased circulating IgA level, Increased circulating IgE level, Decreased mean plate... OMIM:313900
Zika Virus Disease
Fever, Meningitis, Increased circulating IgM level, Infectious encephalitis, Thrombocytopenia ORPHA:448237
Dopamine Beta-Hydroxylase Deficiency
Anemia, Elevated circulating creatinine concentration, Hypothermia, Increased blood urea nitrogen ORPHA:230
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Acute Monoblastic/Monocytic Leukemia
Fever, Bone marrow hypercellularity, Acute monocytic leukemia, Leukocytosis, Weight loss, Abnorma... ORPHA:514
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Combined Oxidative Phosphorylation Deficiency 37
Hyperalaninemia, Failure to thrive, Hypoalbuminemia, Hypothermia OMIM:618329
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Increased m... OMIM:277410
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperornithinemia, Lethargy, Failure to thrive, Hyperammonemia OMIM:238970
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Megakaryocytopenia, Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Spontaneous Periodic Hypothermia
Hypothermia ORPHA:29822
Pearson Syndrome
Reticulocytosis, Pancytopenia, Small for gestational age, Hypomagnesemia, Thrombocytopenia, Splen... ORPHA:699
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... ORPHA:894
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Splenomegaly, Spontaneous hemolytic crises, Nonspheroc... OMIM:613470
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Infantile Sialic Acid Storage Disease
Splenomegaly, Vacuolated lymphocytes, Fair hair, Hypopigmentation of the skin OMIM:269920
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Prolonged bleeding time, Hemolytic anemia, Splenomegaly, Leukopenia,... ORPHA:809
Immunodeficiency 96
Increased proportion of gamma-delta T cells, Recurrent infections, Decreased circulating total Ig... OMIM:619774
Developmental And Epileptic Encephalopathy 78
Hypothermia OMIM:618557
Inflammatory Pseudotumor Of The Liver
Fever, Increased hepatitis B virus antibody level, Elevated circulating alpha-fetoprotein concent... ORPHA:90003
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia, Recurrent fever OMIM:616744
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hypopigmentation, Irregular hyperpigmentation ORPHA:1816
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Dermatitis, Atopic
Keratoconus, Cataract, Conjunctivitis OMIM:603165
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Keratoglobus, Astigmatism, Retinal fold OMIM:108145
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Transient hyperlipidemia, Elevated circulating creatine kinase concentration, Hyperammo... OMIM:255120
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Elevated circulating creatine kinase concentration, Elevated circulati... OMIM:609015
Indolent Systemic Mastocytosis
Mastocytosis, Splenomegaly, Increased proportion of CD25+ mast cells, Abnormal mast cell morphology ORPHA:98848
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, De... OMIM:300972
Vexas Syndrome
Macrocytic anemia, Megakaryocyte dysplasia, Elevated circulating C-reactive protein concentration... OMIM:301054
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Highly elevated creatine kinase, Neutropenia, Elevated circulating creatine kinase concentration,... OMIM:251900
Combined Oxidative Phosphorylation Deficiency 2
Lethargy, Small for gestational age OMIM:610498
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Lethargy, Hyperammonemia OMIM:253270
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Fever, Leukocytosis, Depression, Thrombocytopenia ORPHA:83601
Familial Hypoaldosteronism
Hyponatremia, Hyperkalemia, Increased circulating renin level, Lethargy, Failure to thrive, Recur... ORPHA:427
Immunodeficiency 10
Autoimmune hemolytic anemia, Recurrent infections, Recurrent bacterial infections, Recurrent feve... OMIM:612783
Huntington Disease-Like 2
Weight loss, Bradykinesia, Depression, Apathy, Inertia OMIM:606438
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Increased circulating interferon-gamma concentration OMIM:612952
3-Methylglutaconic Aciduria Type 4
Failure to thrive, Thrombocytopenia ORPHA:67048
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy OMIM:618683
Letterer-Siwe Disease
Fever, Hepatosplenomegaly, Anemia, Neutropenia, Thrombocytopenia OMIM:246400
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Recurrent infections, Leukopenia, Hypoalbuminemia,... ORPHA:64743
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair... OMIM:203100
Sting-Associated Vasculopathy, Infantile-Onset
Recurrent respiratory infections, Failure to thrive, Elevated circulating C-reactive protein conc... OMIM:615934
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia, Failure to thrive ORPHA:2089
Severe Canavan Disease
Lethargy ORPHA:314911
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Pancytopenia, Failure to thrive in infancy, Hypersplenism, Neutropenia in presence of anti-neutro... ORPHA:228426
Autosomal Recessive Dopa-Responsive Dystonia
Fever, Lethargy, Bradykinesia ORPHA:101150
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Ménétrier Disease
Helicobacter pylori infection, Hypochromic microcytic anemia, Weight loss, Hypoalbuminemia, Hypop... ORPHA:2494
Barth Syndrome
Cyclic neutropenia, Hypochromic microcytic anemia, Granulocytopenia, Neutropenia, Failure to thri... OMIM:302060
Symptomatic Form Of Hfe-Related Hemochromatosis
Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Weig... ORPHA:465508
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti ORPHA:1573
Pfapa Syndrome
Abnormality of temperature regulation, Splenomegaly, Recurrent pharyngitis, Weight loss, Infectio... ORPHA:42642
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp... ORPHA:999
Dentinogenesis Imperfecta
Prolonged bleeding time, Bruising susceptibility ORPHA:49042
Typhoid
Fever, Splenomegaly, Infectious encephalitis, Lethargy ORPHA:99745
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Lig4 Syndrome
Leukocytosis, Abnormal bone marrow cell morphology, Pancytopenia, Acute leukemia ORPHA:99812
Factor X Deficiency
Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,... OMIM:227600
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Hypoplastic toenails, Sp... ORPHA:2930
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Head titubation, Lethargy, Failure to thrive OMIM:250620
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Myelofibrosis, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:231095
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Pancytopenia, Recurrent fever OMIM:618321
Encephalitis Lethargica
Fever, Lethargy, Increased circulating antibody level, Recurrent viral infections ORPHA:83600
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2251
Classic Galactosemia
Abnormal erythrocyte enzyme level, Lethargy, Sepsis, Depression ORPHA:79239
Immunodeficiency 108 With Autoinflammation
Hyposegmentation of neutrophil nuclei, Impaired neutrophil chemotaxis OMIM:260570
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Bone marrow hypocellulari... OMIM:127550
Gaba-Transaminase Deficiency
Lethargy OMIM:613163
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Gaucher Disease
Fever, Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Spl... ORPHA:355
Good Syndrome
Abnormal leukocyte morphology, Recurrent respiratory infections, Recurrent urinary tract infectio... ORPHA:169105
Fanconi Anemia, Complementation Group D2
Pancytopenia, Small for gestational age, Reticulocytopenia, Anemia, Bone marrow hypocellularity, ... OMIM:227646
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Abnormal megakaryocyte morp... ORPHA:67044
Renal Hypoplasia, Bilateral
Hyponatremia, Small for gestational age, Hyperkalemia, Lethargy, Failure to thrive, Anemia ORPHA:97362
Gamma-Heavy Chain Disease
Fever, Recurrent respiratory infections, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia... ORPHA:100026
Developmental And Epileptic Encephalopathy 66
Anemia, Neutropenia OMIM:618067
Mast Cell Sarcoma
Mastocytosis, Splenomegaly, Weight loss ORPHA:66661
Intermediate Osteopetrosis
Chronic infection, Hepatosplenomegaly, Anemia, Hypocalcemia, Thrombocytopenia ORPHA:210110
Diamond-Blackfan Anemia 11
Granulocytic hypoplasia, Bone marrow hypocellularity, Anemia of inadequate production, Neutropenia OMIM:614900
Pontocerebellar Hypoplasia, Type 6
Lethargy, Failure to thrive OMIM:611523
Bacterial Toxic-Shock Syndrome
Fever, Recurrent urinary tract infections, Elevated circulating creatine kinase concentration, Ab... ORPHA:36234
Leukoencephalopathy With Vanishing White Matter 1
Fever, Lethargy OMIM:603896
Clouston Syndrome
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... OMIM:129500
Follicular Lymphoma
Fever, Splenomegaly, Meningitis, Weight loss ORPHA:545
Undifferentiated Pleomorphic Sarcoma
Fever, Weight loss ORPHA:2023
Combined Immunodeficiency Due To Crac Channel Dysfunction
Fever, Hemolytic anemia, Recurrent viral infections, Splenomegaly, Recurrent mycobacterial infect... ORPHA:169090
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Failure to thrive OMIM:618228
Congenital Disorder Of Glycosylation, Type Ih
Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Failure to thrive, Thromb... OMIM:608104
Keratoconus Posticus Circumscriptus
Keratoconus, Central posterior corneal opacity OMIM:244600
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Small for gestational age, Hyperammonemia, Recurrent infections, Neutropenia, Hyperalaninemia, Fa... OMIM:615471
Amoebiasis Due To Entamoeba Histolytica
Fever, Liver abscess, Lung abscess, Leukocytosis, Weight loss, Hypoalbuminemia, Anemia ORPHA:67
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thr... ORPHA:3240
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Immunodeficiency 31C
Fever, Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, R... OMIM:614162
Lethal Infantile Mitochondrial Myopathy
Lethargy ORPHA:254857
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Multiple lentigines, Pheoch... OMIM:160980
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Hypothermia OMIM:614498
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypothermia OMIM:616501
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Fever, Abnormality of temperature regulation, Hypothermia, Recurrent pneumonia, Obesity OMIM:618493
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Highly arched eyebrow, Abnormal optic disc morphology, Decreased corneal thickness, Congenital st... ORPHA:293967
Combined Deficiency Of Factor V And Factor Viii
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo... ORPHA:35909
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Splenomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Hypothermia, Large for gestational age ORPHA:226313
Sarcoidosis, Susceptibility To, 1
Fever, Pancytopenia, Abnormality of T cell physiology, Splenomegaly, Weight loss, Increased circu... OMIM:181000
Congenital Toxoplasmosis
Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:858
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Failure to thrive OMIM:618226
Brucellosis
Fever, Liver abscess, Lung abscess, Small for gestational age, Elevated circulating C-reactive pr... ORPHA:1304
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy... ORPHA:71212
Classic Mycosis Fungoides
Splenomegaly, Irregular hyperpigmentation, Abnormal lymphocyte morphology, Hypopigmented skin pat... ORPHA:2584
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Waardenburg Syndrome, Type 3
Partial albinism, Blue irides, Hypopigmented skin patches, Premature graying of hair, White forel... OMIM:148820
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Lethargy, Increased body weight ORPHA:276608
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fever, Anemia, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:324964
Congenital Enterocyte Heparan Sulfate Deficiency
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... ORPHA:103910
Overlap Myositis
Elevated circulating creatine kinase concentration, Severe infection, Leukopenia, Abnormal circul... ORPHA:206572
Mirage Syndrome
Hyponatremia, Recurrent urinary tract infections, Thrombocytopenia, Hyperkalemia, Sepsis, Leukope... OMIM:617053
Cohen Syndrome
Small for gestational age, Leukopenia, Childhood-onset truncal obesity, Neutropenia OMIM:216550
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Fever, Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentra... OMIM:235400
Isolated Congenital Hypoglossia/Aglossia
Weight loss ORPHA:141152
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Multiple Myeloma
Hypercalcemia, Increased circulating IgA level, Splenomegaly, Elevated circulating creatinine con... ORPHA:29073
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Recurrent respiratory infections, Candida esophagitis, Perianal abscess, Severe varicella zoster ... OMIM:618213
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Acquired Von Willebrand Syndrome
Gastrointestinal hemorrhage, Normocytic anemia, Refractory anemia, Epistaxis, Intracranial hemorr... ORPHA:99147
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:201475
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... ORPHA:218
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Recurrent pneumonia, Decreased mean platel... OMIM:617718
Cholesteryl Ester Storage Disease
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen... OMIM:278000
Scrub Typhus
Fever, Splenomegaly, Lethargy, Meningitis, Infectious encephalitis ORPHA:83317
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Depression ORPHA:99832
Huntington Disease-Like 1
Bradykinesia, Abnormal posturing, Weight loss, Depression ORPHA:157941
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Chronic Hiccup
Weight loss, Depression ORPHA:396
Focal Facial Dermal Dysplasia Type I
Spotty hyperpigmentation, Spotty hypopigmentation ORPHA:79133
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Low-grade ... ORPHA:50918
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Recurrent infections, Gra... ORPHA:1855
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Low-grade fever, Weight loss ORPHA:1164
Crimean-Congo Hemorrhagic Fever
Fever, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomega... ORPHA:99827
3-Methylglutaconic Aciduria, Type Viib
Bone marrow maturation arrest, Recurrent pneumonia, Recurrent infections, Leukopenia, Neutropenia... OMIM:616271
Classic Hodgkin Lymphoma
Fever, Splenomegaly, Bone marrow hypocellularity, Weight loss ORPHA:391
Cystic Echinococcosis
Invasive parasitic infection, Abscess, Eosinophilia, Unusual infection, Weight loss, Increased ci... ORPHA:400
Thrombotic Thrombocytopenic Purpura, Hereditary
Fever, Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangio... OMIM:274150
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Failure to thrive, Anemia OMIM:615085
Dyskeratosis Congenita, Digenic
Alopecia, Sparse eyelashes, Abnormality of skin pigmentation, Decreased circulating total IgM, Na... OMIM:620040
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Hypoalbuminemia, Hyp... OMIM:613658
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Isolated Atp Synthase Deficiency
Hyperalaninemia, Lethargy, Hyperammonemia ORPHA:254913
Galactose Epimerase Deficiency
Splenomegaly, Weight loss ORPHA:79238
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypothermia ORPHA:168593
Acute Radiation Syndrome
Hyperpigmentation of the skin, Granulocytopenia, Lymphopenia, Hypopigmentation of the skin, Throm... ORPHA:454831
Herpes Simplex Virus Encephalitis
Hyponatremia, Fever, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocy... ORPHA:1930
Infantile Liver Failure Syndrome 2
Lethargy, Hyperammonemia OMIM:616483
Macs Syndrome
Prolonged bleeding time, Alopecia, Sparse eyebrow, Cryptorchidism, Sparse hair, Bruising suscepti... OMIM:613075
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Acute hyperammonemia, Failure to thrive OMIM:210200
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Pancytopenia ORPHA:85321
Celiac Disease, Susceptibility To, 1
Macrocytic anemia, Depression, Weight loss, Iron deficiency anemia, Hypocalcemia, Thrombocytosis,... OMIM:212750
Polyarteritis Nodosa
Fever, Elevated circulating C-reactive protein concentration, Weight loss ORPHA:767
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... ORPHA:66628
Beta-Ketothiolase Deficiency
Fever, Leukocytosis, Hyperammonemia, Weight loss, Apathy, Hyperuricemia, Thrombocytosis ORPHA:134
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:99901
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Internal hemorrhage, Splenic rupture, Prolonged pro... ORPHA:335
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Neurodegeneration And Seizures Due To Copper Transport Defect
Lethargy, Temperature instability, Abnormal circulating ceruloplasmin concentration, Abnormal cir... OMIM:620306
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Microcornea, Anterior synechiae of the ante... ORPHA:3214
Multiple Mitochondrial Dysfunctions Syndrome 1
Elevated circulating 2-hydroxybutyric acid concentration, Lethargy, Failure to thrive, Hyperglyci... OMIM:605711
Smith-Kingsmore Syndrome
Large for gestational age, Thrombocytopenia, Decreased circulating IgA level OMIM:616638
Mccune-Albright Syndrome
Pancytopenia, Bone marrow hypocellularity, Hypophosphatemia ORPHA:562
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia ORPHA:156
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Elevated circulating creatine kinase concentration, Hyperammonemia OMIM:212138
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Diamond-Blackfan Anemia
Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Majeed Syndrome
Fever, Cachexia, Congenital hypoplastic anemia, Splenomegaly, Leukocytosis, Hypochromic microcyti... ORPHA:77297
Glucocorticoid Deficiency 5
Decreased circulating cortisol level, Hyperpigmentation of the skin OMIM:617825
Microtriplication 11Q24.1
Keratoconus, Synophrys, Long eyelashes, Thick eyebrow ORPHA:289522
Fanconi Anemia, Complementation Group I
Decreased body weight, Bone marrow hypocellularity, Neutropenia OMIM:609053
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Spl... OMIM:619381
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypercellularity, Increased circulating IgG level, Lymphocytosis, Increased B cell co... ORPHA:3261
Progressive Nodular Histiocytosis
Fever, Cachexia ORPHA:158022
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Recurrent upper respiratory tract infections, Obesity, Decreased proportion... ORPHA:179494
Psoriasis 14, Pustular
Fever, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Alg12-Cdg
Hyponatremia, Recurrent respiratory infections, Partial absence of specific antibody response to ... ORPHA:79324
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Hepatosplenomegaly, Impaired oxidative... OMIM:618935
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Abnormal circulating fatty-acid concentration, Increased body weight, ... ORPHA:263455
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Fever, Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty ... OMIM:608836
Hypothyroidism, Congenital, Nongoitrous, 2
Lethargy, Increased circulating thyroglobulin level, Hypothermia, Hyperbilirubinemia OMIM:218700
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Shwachman-Diamond Syndrome 2
Normocytic anemia, Recurrent infections, Neutropenia, Failure to thrive, Thrombocytopenia OMIM:617941
Dubowitz Syndrome
Aplastic anemia, Recurrent infections, Acute lymphoblastic leukemia, Hypocholesterolemia, Decreas... OMIM:223370
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Self-Improving Dystrophic Epidermolysis Bullosa
Abnormality of the subungual region, Abnormality of skin pigmentation, Nail dystrophy, Anonychia,... ORPHA:79411
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Failure to thrive in infancy, Recurrent tonsillitis, Hyperkalemia, Weight loss, Inc... ORPHA:171876
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Increased circulating IgA level, Abnormal circulating fatty-acid conc... ORPHA:2298
Wilson Disease
Splenomegaly, Increased body weight, Depression, Anemia, Weight loss, Failure to thrive, Thromboc... ORPHA:905
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin ORPHA:261519
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Macrocytic anemia, Congenital hypopla... OMIM:250250
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Huntington Disease
Depression, Bradykinesia, Weight loss, Abnormal circulating cholesterol concentration, Apathy, De... ORPHA:399
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Classic Phenylketonuria
Tremor, Hypopigmentation of hair, Cataract, Hypopigmentation of the skin ORPHA:79254
Osteogenesis Imperfecta, Type Xvi
Prolonged bleeding time, Bruising susceptibility OMIM:616229
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Lethargy, Hyperglycinemia OMIM:614299
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Bone marrow hypocellularity, Sparse hair OMIM:616353
Fanconi Anemia, Complementation Group P
Pancytopenia, Anemia OMIM:613951
Postinfectious Vasculitis
Abnormal circulating protein concentration, Fever, Elevated circulating C-reactive protein concen... ORPHA:48435
Castleman Disease
Myelofibrosis, Increased circulating interleukin 6 concentration, Elevated circulating C-reactive... ORPHA:160
Maple Syrup Urine Disease
Lethargy, Elevated circulating branched chain amino acid concentration, Elevated circulating L-al... OMIM:248600
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Developmental Delay, Hypotonia, And Impaired Language
Recurrent pneumonia, Neutropenia OMIM:620012
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia OMIM:617397
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Crigler-Najjar Syndrome
Lethargy, Infectious encephalitis ORPHA:205
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Sweet Syndrome
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated... ORPHA:3243
Citrullinemia, Classic
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Elevated plasma citrulline, Let... OMIM:215700
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Meningitis, Leukocytosis, Unusual CNS infe... ORPHA:297
Rheumatoid Arthritis
Fever, Elevated circulating C-reactive protein concentration, Weight loss OMIM:180300
Q Fever
Fever, Unusual infection, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Weight loss, Granul... ORPHA:781
Tbck-Related Intellectual Disability Syndrome
Bipolar affective disorder, Abnormal circulating lipid concentration, Hypothermia ORPHA:488632
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypopigmentation of the skin ORPHA:261304
3-Methylglutaconic Aciduria Type 7
Bone marrow hypocellularity, Infection associated neutropenia, Neutropenia ORPHA:445038
Alg8-Cdg
Hyponatremia, Small for gestational age, Anemia, Failure to thrive, Thrombocytopenia ORPHA:79325
Rothmund-Thomson Syndrome
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:2909
Diamond-Blackfan Anemia 7
Macrocytic anemia, Recurrent infections, Increased mean corpuscular volume, Neutropenia, Recurren... OMIM:612562
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Alopecia, Cataract, Vitreous floaters, Poliosis, Vitritis, Retin... ORPHA:79098
Seckel Syndrome 1
Pancytopenia OMIM:210600
3-Methylglutaconic Aciduria, Type Viia
Anisopoikilocytosis, Anemia, Neutropenia OMIM:619835
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Anemia, Leukopenia, Prolonged prothrombin time, Microangiopath... ORPHA:2330
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased serum pyruvate, Lethargy OMIM:604377
Benign Samaritan Congenital Myopathy
Lethargy ORPHA:324581
Stt3B-Cdg
Failure to thrive, Thrombocytopenia ORPHA:370924
Orthostatic Hypotension 1
Hypomagnesemia, Intermittent hypothermia, Increased blood urea nitrogen OMIM:223360
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin OMIM:601957
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Fragile nails OMIM:242150
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Overweight, Lethargy, Abnormal circulating thyroglobulin level, Hypothermia ORPHA:226307
Mitochondrial Neurogastrointestinal Encephalomyopathy
Hyperalaninemia, Cachexia, Anemia, Weight loss ORPHA:298
Fusariosis
Fever, Brain abscess, Lung abscess, Abnormality of the spleen, Invasive fungal infection, Unusual... ORPHA:228119
Congenital Disorder Of Glycosylation, Type Ix
Failure to thrive, Thrombocytopenia OMIM:615597
Cirrhosis, Familial
Fever, Increased level of propylene glycol in blood, Lethargy OMIM:215600
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Pyomyositis
Fever, Recurrent cutaneous abscess formation, Leukocytosis, Sepsis, Recurrent infections, Weight ... ORPHA:764
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Huntington Disease-Like 2
Weight loss ORPHA:98934
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Acute hyperammonemia, Hyperammonemia, Hyperleucinemia, Lethargy, Failure to thrive OMIM:210210
Lichen Planus Pemphigoides
Hypopigmented streaks ORPHA:254478
Rothmund-Thomson Syndrome Type 1
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:221008
Leukocyte Adhesion Deficiency
Abnormal bleeding, Acute myeloid leukemia, Polycythemia, Leukocytosis, Bone marrow hypocellularit... ORPHA:2968
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Abnormality of skin pigmentation, Purpura ORPHA:745
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Abnormal bleeding, Prolonged prothrombin time, Epistaxis OMIM:610842
Orotic Aciduria
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... OMIM:258900
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Recurrent respiratory infections, Failure to thrive, Hypothermia ORPHA:17
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem... OMIM:311250
Hyper-Igd Syndrome
Neutrophilia, Increased circulating IgA level, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Re... OMIM:260920
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Glucocorticoid Deficiency 2
Decreased circulating cortisol level, Increased circulating ACTH level, Hyperpigmentation of the ... OMIM:607398
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Failure to thrive, Thrombocytopenia OMIM:616577
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of neutrophils, White hair, Ocular albinism, Hypochromic anemia, Generalized hypopigm... ORPHA:2720
Wolman Disease
Fever, Cachexia, Bone-marrow foam cells, Splenomegaly, Anemia ORPHA:75233
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Recurrent respiratory infections, Thrombocytopenia, Sepsis, Hepatosplenomegaly, Increased circula... ORPHA:505248
Rift Valley Fever
Fever, Thrombocytopenia, Periodic fever, Severe viral infection, Increased circulating IgG level,... ORPHA:319251
Acute Generalized Exanthematous Pustulosis
Fever, Neutrophilia, Eosinophilia, Leukocytosis, Neutropenia ORPHA:293173
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormality of skin pigmentation, Subcutaneous hemorrhage, Purpura ORPHA:743
Bone Dysplasia, Lethal Holmgren Type
Recurrent respiratory infections, Failure to thrive, Anemia, Weight loss ORPHA:1842
Mitochondrial Dna-Associated Leigh Syndrome
Fever, Hypothermia, Low plasma citrulline, Hyperalaninemia, Failure to thrive ORPHA:255210
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Fever, Hypothermia, Hyperlipidemia, Recurrent upper respiratory tract infections, H... ORPHA:293987
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr... OMIM:222700
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Small for gestational age, Elevated circulating creatine kinase concentration, Thromb... OMIM:301056
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... ORPHA:3440
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Degcags Syndrome
Fever, Pancytopenia, Recurrent urinary tract infections, Small for gestational age, Congenital hy... OMIM:619488
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Leukocytosis, Recurrent otitis media, Lethargy, Recurrent lower respiratory tract infections, Fai... OMIM:620233
Alexander Disease
Failure to thrive, Infectious encephalitis, Hypothermia, Depression ORPHA:58
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Kaposi Sarcoma
Fever, Abnormality of the spleen, Recurrent herpes, Weight loss ORPHA:33276
Exercise-Induced Malignant Hyperthermia
Elevated circulating creatine kinase concentration, Hyperkalemia, Malignant hyperthermia, Hyperph... ORPHA:466650
Alpha-Mannosidosis, Infantile Form
Pancytopenia, Recurrent urinary tract infections, Depression, Hepatosplenomegaly, Recurrent infec... ORPHA:309282
Tufted Angioma
Anemia, Megakaryocytopenia, Thrombocytopenia ORPHA:1063
Juvenile Huntington Disease
Bradykinesia, Weight loss, Depression ORPHA:248111
Sarcoidosis
Fever, Hemolytic anemia, Hypercalcemia, Hypothermia, Eosinophilia, Thrombocytopenia, Increased T ... ORPHA:797
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Prematu... OMIM:611584
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Hyperglutaminemia, Low plasma citrulline, Hyperammonemia, Hyperprolinemia, Hypoornithinemia, Leth... OMIM:615751
Al Amyloidosis
Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Weight loss, Hypoalbuminemia,... ORPHA:85443
Shigellosis
Hyponatremia, Fever, Failure to thrive in infancy, Abscess, Leukocytosis, Abnormal blood ion conc... ORPHA:810
Rothmund-Thomson Syndrome Type 2
Calcinosis, Aplastic anemia, Small for gestational age, Neutropenia, Leukemia, Anemia ORPHA:221016
Riddle Syndrome
Elevated circulating alpha-fetoprotein concentration, Recurrent viral infections, Recurrent pneum... ORPHA:420741
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Braddock-Carey Syndrome 2
Megakaryocytopenia, Thrombocytopenia OMIM:619981
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches ORPHA:626
Cholera
Hyponatremia, Fever, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia, Lethargy ORPHA:173
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Recurrent Aspergillus infections, Autoimmune hemolytic anemia, Recurrent herpes, Autoimmune throm... ORPHA:391487
Leukocyte Adhesion Deficiency Type Ii
Chronic lymphocytic meningitis, Neutrophilia, Recurrent urinary tract infections, Small for gesta... ORPHA:99843
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Toxic Epidermal Necrolysis
Recurrent respiratory infections, Sepsis, Weight loss, Anemia, Neutropenia, Thrombocytopenia ORPHA:537
Glycogen Storage Disease Ib
Splenomegaly, Hyperlipidemia, Recurrent bacterial infections, Hyperuricemia, Neutropenia OMIM:232220
Vici Syndrome
Abnormality of retinal pigmentation, Decreased circulating IgG level, Hypopigmentation of the ski... ORPHA:1493
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha... OMIM:619743
Takayasu Arteritis
Fever, Anemia, Weight loss ORPHA:3287
Yellow Fever
Fever, Increased circulating interleukin 6 concentration, Neutrophilia, Elevated circulating crea... ORPHA:99829
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:251270
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Adult-Onset Autosomal Dominant Leukodystrophy
Head titubation, Temperature instability, Recurrent urinary tract infections, Hypothermia ORPHA:99027
Spondyloenchondrodysplasia With Immune Dysregulation
Recurrent respiratory infections, Autoimmune thrombocytopenia, T lymphocytopenia, Recurrent sinus... OMIM:607944
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time ORPHA:1901
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fever, Weight loss, Hemophagocytosis, Hepatosplenomegaly ORPHA:86884
Hermansky-Pudlak Syndrome
Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Epist... ORPHA:79430
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Cryptorchidism, Fair hair, Blue irides OMIM:614613
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Costello Syndrome
Deep-set nails, Keratoconus, Generalized hyperpigmentation, Abnormal fingernail morphology, Conca... ORPHA:3071
Biotinidase Deficiency
Splenomegaly, Lethargy, Hyperammonemia OMIM:253260
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Trichothiodystrophy
Recurrent bronchopulmonary infections, Increased mean corpuscular hemoglobin concentration, Recur... ORPHA:33364
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal elevation of IgG, Paraproteinemia, Chronic ly... ORPHA:91139
Syndromic Diarrhea
Lymphopenia, Hypopigmentation of hair, Brittle hair, Thrombocytosis, Increased mean platelet volu... ORPHA:84064
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia, Recurrent infections OMIM:619463
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Elevated circulating creatine kinase concentration, Cachexia ORPHA:1933
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Failure to thrive, Cachexia, Weight loss OMIM:612075
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Fever, Lethargy, Truncal titubation OMIM:607483
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Failure to thrive, Small for gestational age, Thrombocytopenia OMIM:208085
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia, Hypothermia ORPHA:31826
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Hypothermia OMIM:608800
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Cerebral hemorrhage, Prolo... ORPHA:244242
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Keratoconus, Retinal degeneration ORPHA:542306
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Cachexia, Weight loss OMIM:613662
Sengers Syndrome
Thrombocytopenia OMIM:212350
Localized Epidermolysis Bullosa Simplex
Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Recurrent infections, Chronic neutropenia, Neutropenia OMIM:258360
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Naegeli-Franceschetti-Jadassohn Syndrome
Reticulated skin pigmentation, Hyperpigmentation in sun-exposed areas, Hypopigmentation of the sk... ORPHA:69087
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Peripheral Primitive Neuroectodermal Tumor
Anemia, Elevated carcinoma antigen 125 level, Elevated circulating alpha-fetoprotein concentratio... ORPHA:370348
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Temperature instability, Intermittent hypothermia OMIM:608643
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Dysgammaglobulinemia, Recurrent ... OMIM:251260
Cartilage-Hair Hypoplasia
Decreased circulating antibody level, Hypocalcemia, Neutropenia, Failure to thrive, Anemia ORPHA:175
Lujo Hemorrhagic Fever
Fever, Elevated circulating C-reactive protein concentration, Leukocytosis, Severe viral infectio... ORPHA:319213
Leigh Syndrome
Severe viral infection, Neutropenia, Hyperalaninemia, Failure to thrive, Anemia ORPHA:506
Angelman Syndrome
Keratoconus, Optic disc pallor, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmentation o... ORPHA:72
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Recurrent lower respiratory tract infections, Failure to thrive, Neutropenia OMIM:618005
Bartter Syndrome, Type 2, Antenatal
Hyperaldosteronism, Impaired platelet aggregation OMIM:241200
Argininosuccinic Aciduria
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Lethargy, Failure to thrive, Hy... OMIM:207900
Susac Syndrome
Lethargy, Apathy ORPHA:838
Immunodeficiency 55
Absent natural killer cells, Lymphopenia, Recurrent infections, Neutropenia OMIM:617827
Alveolar Echinococcosis
Fever, Liver abscess, Eosinophilia, Weight loss, Abnormal spleen morphology, Increased circulatin... ORPHA:284
Whipple Disease
Hyponatremia, Fever, Cachexia, Splenomegaly, Depression, Infectious encephalitis, Anemia ORPHA:3452
Biotinidase Deficiency
Recurrent viral infections, Recurrent candida infections, Hyperammonemia, Recurrent fungal infect... ORPHA:79241
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Hypomethioninemia, Hyperhomocystinemia, Cystathioninemia, Lethargy, Failure to thrive ORPHA:395
Noonan Syndrome
Abnormal bleeding, Abnormality of the spleen, Abnormal platelet function, Cryptorchidism ORPHA:648
Fanconi Anemia, Complementation Group N
Aplastic anemia OMIM:610832
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Agammaglobulinemia, Lymphopenia, Anemia ORPHA:935
Perry Syndrome
Weight loss, Apathy, Depression ORPHA:178509
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair ORPHA:70472
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocyt... OMIM:305000
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Caroli Disease
Fever, Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Weight loss, Abn... ORPHA:53035
Aicardi-Goutieres Syndrome 9
Hemolytic anemia, Recurrent urinary tract infections, Hepatosplenomegaly, Weight loss, Hypoalbumi... OMIM:619487
Mitochondrial Trifunctional Protein Deficiency
Lethargy, Failure to thrive in infancy, Hypocalcemia ORPHA:746
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Retinal arteriolar tortuosity, Sparse eyebrow, Optic atr... OMIM:230740
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi... OMIM:277450
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Recurrent respiratory infec... OMIM:618131
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Increased circulating interleukin 6 concentration, Hyper... OMIM:256040
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Focal Facial Dermal Dysplasia Type Iv
Abnormal mast cell morphology ORPHA:398189
Glucose-Galactose Malabsorption
Fever, Hypercalcemia, Weight loss, Hypernatremia, Failure to thrive ORPHA:35710
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Bradykinesia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia, Weight loss ORPHA:3165
Idiopathic Bronchiectasis
Fever, Cachexia, Recurrent lower respiratory tract infections, Recurrent Haemophilus influenzae i... ORPHA:60033
Poems Syndrome
Thrombocytosis, Increased circulating antibody level, Polycythemia, Weight loss ORPHA:2905
Hermansky-Pudlak Syndrome 10
Splenomegaly, Recurrent respiratory infections, Neutropenia OMIM:617050
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Autoimmune Pulmonary Alveolar Proteinosis
Abnormal circulating protein concentration, Fever, Intraalveolar phospholipid accumulation, Weigh... ORPHA:747
Autosomal Dominant Progressive External Ophthalmoplegia
Bipolar affective disorder, Elevated circulating creatine kinase concentration, Depression, Brady... ORPHA:254892
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Keratoconus OMIM:609438
Peroxisome Biogenesis Disorder 5A (Zellweger)
Small for gestational age, Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phyt... OMIM:614866
Mogs-Cdg
Hepatosplenomegaly, Decreased circulating antibody level, Decreased circulating total IgM, Decrea... ORPHA:79330
Dowling-Degos Disease
Inguinal freckling, Progressive reticulate hyperpigmentation, Mixed hypo- and hyperpigmentation o... ORPHA:79145
Tempi Syndrome
Increased circulating IgG level, Increased hematocrit, Polycythemia ORPHA:284227
Trichinellosis
Lethargy, Increased circulating IgE level, Apathy, Meningitis ORPHA:863
Multifocal Atrial Tachycardia
Lethargy ORPHA:3282
Gaucher Disease, Type Iiic
Splenomegaly, Pancytopenia OMIM:231005
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Multinodular goiter, Hypomelanotic macule, Nail dystrophy, Freck... OMIM:618373
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Abnormal circulating lipid concentration, Hyperlipoproteinemia, Cachexia, Weight loss ORPHA:1979
Solitary Fibrous Tumor
Hypophosphatemic rickets, Reduced C-peptide level, Fever, Weight loss ORPHA:2126
Sporadic Infantile Bilateral Striatal Necrosis
Recurrent upper respiratory tract infections, Titubation, Bradykinesia, Abnormal posturing, Recur... ORPHA:225147
Pseudohypoparathyroidism Type 1A
Elevated circulating parathyroid hormone level, Elevated circulating calcitonin concentration, Ab... ORPHA:79443
Insulinoma
Lethargy, Increased body weight ORPHA:97279
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cachexia, Hypokalemia, Hypocalcemia, Hypomagnesemia, Anemia OMIM:175500
Congenital Disorder Of Glycosylation, Type Iq
Abnormality of skin pigmentation, Microcytic anemia, Hypertrichosis OMIM:612379
Revesz Syndrome
Aplastic anemia, Bone marrow hypocellularity OMIM:268130
Pyruvate Dehydrogenase Deficiency
Lethargy ORPHA:765
Gapo Syndrome
Keratoconus, Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmen... ORPHA:2067
Alg3-Cdg
Hypopigmentation of the skin ORPHA:79321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Cachexia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thro... ORPHA:2072
Isaacs Syndrome
Weight loss ORPHA:84142
X-Linked Intellectual Disability-Hypotonia-Movement Disorder Syndrome
Abnormality of skin pigmentation ORPHA:457260
Primary Sclerosing Cholangitis
Fever, Recurrent systemic pyogenic infections, Abnormal eosinophil morphology, Splenomegaly, Hepa... ORPHA:171
Caroli Syndrome
Fever, Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Sepsis, Leukope... ORPHA:480520
Martin-Probst Syndrome
Pancytopenia OMIM:300519
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Failure to thrive in infancy, Abscess, Elevated circulating C-reactive protein conc... OMIM:612852
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Weight loss ORPHA:216866
Polymyositis
Fever, Elevated circulating creatine kinase concentration, Weight loss ORPHA:732
Bloom Syndrome
Elevated hemoglobin A1c, Spotty hypopigmentation, Decreased circulating total IgM, Cafe-au-lait s... OMIM:210900
Incontinentia Pigmenti
Ridged nail, Alopecia, Eosinophilia, Supernumerary nipple, Leukocytosis, Retinal hemorrhage, Nail... OMIM:308300
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Recurrent respiratory infections, Recurrent ear infections... ORPHA:163956
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Thrombocytopenia OMIM:616937
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Decreased circulating IgG level, Neutropenia OMIM:271510
Acute Adrenal Insufficiency
Hyponatremia, Normocytic anemia, Hypercalcemia, Hyperkalemia, Weight loss, Increased circulating ... ORPHA:95409
Free Sialic Acid Storage Disease
Abnormality of skin pigmentation, Splenomegaly, Iris hypopigmentation ORPHA:834
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin OMIM:278720
Spinocerebellar Ataxia 48
Cachexia, Depression OMIM:618093
Neuroblastoma, Susceptibility To, 1
Fever, Failure to thrive, Anemia, Weight loss OMIM:256700
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hypertriglyceridemia, Chronic neutropenia, Hyperlipidemia, Recurrent bacterial infections, Hyperu... ORPHA:79259
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Fever, Increased circulating interleukin 6 concentration, Hemolytic anemia, Brain a... ORPHA:544482
Fanconi Anemia, Complementation Group F
Anemia, Leukopenia, Bone marrow hypocellularity, Failure to thrive, Thrombocytopenia OMIM:603467
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Increased body weight, Abdominal obesity, Lethargy, Temperature... ORPHA:398069
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Chronic Beryllium Disease
Abnormal proportion of CD4-positive T cells, Weight loss ORPHA:133
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Recurrent bacterial skin infections, Anisocytosis, Abnormal ci... ORPHA:79277
Focal Facial Dermal Dysplasia Type Iii
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Stevens-Johnson Syndrome
Fever, Recurrent respiratory infections, Abnormality of neutrophils, Sepsis, Weight loss, Anemia,... ORPHA:36426
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin, Leukemia OMIM:276300
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Secondary Short Bowel Syndrome
Low plasma citrulline, Sepsis, Abnormal blood ion concentration, Weight loss, Failure to thrive ORPHA:95427
Pulmonary Non-Tuberculous Mycobacterial Infection
Fever, Disseminated nontuberculous mycobacterial infection, Mycobacterium abscessus abscessus inf... ORPHA:411703
Squalene Synthase Deficiency
Bilateral cryptorchidism, Abnormality of hair pigmentation OMIM:618156
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Lymphopenia, Severe B lymphocytopenia, Thrombocytopenia, Recurrent infections, ... OMIM:620005
Osteootohepatoenteric Syndrome
Weight loss, Hypokalemia, Increased serum bile acid concentration, Failure to thrive, Anemia OMIM:619377
Pediatric Systemic Lupus Erythematosus
Fever, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Drug Reaction With Eosinophilia And Systemic Symptoms
Fever, Eosinophilia, Weight loss, Lymphocytosis, Infectious encephalitis ORPHA:139402
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Abnormality of skin pigmentation, Splenomegaly ORPHA:1414
Isolated Complex I Deficiency
Increased serum pyruvate, Lethargy, Failure to thrive ORPHA:2609
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Sim1-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Obesity, Abdominal obesity, Lethargy, Failure to thrive ORPHA:398079
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Cachexia ORPHA:1216
Cohen Syndrome
Failure to thrive in infancy, Obesity, Neutropenia ORPHA:193
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233710
Fructose-1,6-Bisphosphatase Deficiency
Fever, Lethargy OMIM:229700
Desmoplastic Small Round Cell Tumor
Cachexia, Anemia, Weight loss ORPHA:83469
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Sandifer Syndrome
Abnormal posturing, Anemia ORPHA:71272
Oculopharyngodistal Myopathy
Weight loss ORPHA:98897
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Abnormality of serum cytokine level, Microangiopathic hemolytic... ORPHA:464343
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Hyperammonemia, Hyperornithinemia, Lethargy, Failure to thrive, Abnormal circulating citrulline c... ORPHA:415
Waardenburg Syndrome, Type 1
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Prematur... OMIM:193500
Porphyria Variegata
Anemia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:79473
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Pediatric-Onset Graves Disease
Splenomegaly, Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Thrombocyt... ORPHA:525731
Nail-Patella Syndrome
Ridged nail, Keratoconus, Cataract, Concave nail, Antecubital pterygium, Microcornea, Microphakia... OMIM:161200
Non-Functioning Paraganglioma
Hypercalcemia, Weight loss ORPHA:94080
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Depigmentation/hyperpigmentation of skin, Decreased circulating antibody level, Generalized retic... ORPHA:79396
Amoebiasis Due To Free-Living Amoebae
Fever, Unusual skin infection, Granuloma, Lethargy, Infectious encephalitis, Increased red blood ... ORPHA:68
Mulibrey Nanism
Cachexia ORPHA:2576
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Weight loss OMIM:188580
Saul-Wilson Syndrome
Neutropenia OMIM:618150
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Rectal abscess OMIM:233690
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Congenital Disorder Of Glycosylation, Type Iig
Failure to thrive in infancy, Giant platelets, Recurrent infections, Anemia, Thrombocytopenia OMIM:611209
Igg4-Related Retroperitoneal Fibrosis
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... ORPHA:49041
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Abnormality of skin pigmenta... ORPHA:75496
Hirschsprung Disease
Failure to thrive in infancy, Sepsis, Weight loss ORPHA:388
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches OMIM:300337
Hereditary Sensory And Autonomic Neuropathy Type 4
Abscess, Hypothermia, Recurrent Staphylococcus aureus infections, Recurrent fever, Unexplained fe... ORPHA:642
Khan-Khan-Katsanis Syndrome
Failure to thrive, Lymphopenia, Anemia, Neutropenia OMIM:618460
Hereditary Fructose Intolerance
Lethargy, Hypermagnesemia, Hyperuricemia, Hypophosphatemia ORPHA:469
Hereditary Orotic Aciduria
Splenomegaly, Recurrent respiratory infections, Impaired T cell function, Anemia ORPHA:30
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Mitochondrial Complex I Deficiency, Nuclear Type 9
Lethargy OMIM:618232
Crouzon Syndrome
Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Igg4-Related Dacryoadenitis And Sialadenitis
Fever, Increased circulating IgG4 level, Increased circulating IgA level, Weight loss, Increased ... ORPHA:79078
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hypokalemia, Weight loss OMIM:613239
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Pemphigus Vulgaris
Recurrent cutaneous abscess formation, Weight loss, Recurrent infections ORPHA:704
Glycogen Storage Disease Ic
Cyclic neutropenia, Hyperlipidemia, Recurrent upper respiratory tract infections, Hyperuricemia OMIM:232240
Farber Disease
Thrombocytopenia, Recurrent upper respiratory tract infections, Hepatosplenomegaly, Recurrent fev... ORPHA:333
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin OMIM:236200
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Autoimmune Polyendocrinopathy Type 2
Hypopigmented skin patches ORPHA:3143
Bloom Syndrome
Decreased proportion of CD4-positive T cells, Acute myeloid leukemia, Abscess, Decreased circulat... ORPHA:125
Ring Chromosome 10 Syndrome
Hypocalcemia, Cachexia ORPHA:1438
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Pseudo-Torch Syndrome 1
Splenomegaly, Failure to thrive, Thrombocytopenia OMIM:251290
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Moynahan Syndrome
Cachexia ORPHA:2574
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Cataract, Corneal opacity, Ocular albinism, Athetosis, Choroideremia, I... ORPHA:2719
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Extramedullary hematopoiesis ORPHA:79303
Mitochondrial Complex I Deficiency, Nuclear Type 1
Splenomegaly, Hyperalaninemia, Failure to thrive, Lethargy OMIM:252010
Hemorrhagic Fever-Renal Syndrome
Fever, Increased circulating interleukin 6 concentration, Thrombocytopenia, Leukocytosis, Severe ... ORPHA:340
Perry Syndrome
Bradykinesia, Weight loss, Apathy, Depression OMIM:168605
Noonan Syndrome 9
Sparse eyebrow, Cryptorchidism, Prolonged prothrombin time, Curly hair OMIM:616559
Ogden Syndrome
Lethargy ORPHA:276432
Hypoadrenocorticism, Familial
Abnormality of skin pigmentation OMIM:240200
Warburg-Cinotti Syndrome
Retinal dystrophy, Symblepharon, Limbal stem cell deficiency, Decreased corneal thickness, Cornea... OMIM:618175
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Porphyria Cutanea Tarda
Abnormal erythrocyte enzyme level, Hypopigmentation of the skin, Hyperpigmentation of the skin, C... ORPHA:101330
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Cachexia, Hypersplenism, Vacuolated l... ORPHA:275761
Gaucher Disease, Perinatal Lethal
Splenomegaly, Hepatosplenomegaly, Anemia, Apathy, Decreased body weight, Thrombocytopenia OMIM:608013
Malt Lymphoma
Fever, Recurrent respiratory infections, Anemia, Weight loss ORPHA:52417
Aicardi-Goutieres Syndrome 1
Fever, Splenomegaly, Thrombocytopenia OMIM:225750
Menkes Disease
Sepsis, Hypothermia ORPHA:565
Combined Oxidative Phosphorylation Deficiency 11
Lethargy OMIM:614922
Primary Sjögren Syndrome
Normocytic anemia, Decreased circulating antibody level, Depression, Leukopenia, Normochromic ane... ORPHA:289390
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Anemia, Hypothermia, Decreased serum iron ORPHA:438213
Glycerol Kinase Deficiency
Lethargy, Hypertriglyceridemia, Small for gestational age, Hyperglycerolemia OMIM:307030
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Adams-Oliver Syndrome
Leukopenia, Failure to thrive, Thrombocytopenia ORPHA:974
Infantile Liver Failure Syndrome 3
Splenomegaly, Prolonged prothrombin time OMIM:618641
Osteosarcoma
Fever, Weight loss ORPHA:668
Gaucher Disease, Type Ii
Splenomegaly, Anemia, Bronchiolitis, Failure to thrive, Thrombocytopenia OMIM:230900
Diffuse Cutaneous Mastocytosis
Myeloproliferative disorder, Abnormality of the spleen, Lymphocytosis, Mixed hypo- and hyperpigme... ORPHA:79456
Recon Progeroid Syndrome
Thrombocytopenia, Anemia, Recurrent infections OMIM:620370
Lichen Planopilaris
Hypopigmented skin patches ORPHA:525
Familial Glucocorticoid Deficiency
Hyponatremia, Recurrent urinary tract infections, Hyperkalemia, Recurrent infections, Weight loss... ORPHA:361
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Depression OMIM:128100
Eisenmenger Syndrome
Brain abscess, Elevated circulating C-reactive protein concentration, Hypochromic microcytic anem... ORPHA:97214
Hennekam-Beemer Syndrome
Abnormality of skin pigmentation, Irregular hyperpigmentation, Generalized hyperpigmentation, Mas... ORPHA:2135
Nodular Non-Suppurative Panniculitis
Fever, Splenomegaly, Weight loss ORPHA:33577
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Splenomegaly, Impaired oxidative burst, Granulomatosis, Granuloma, Rectal abscess OMIM:306400
Congenital Muscular Dystrophy Due To Lmna Mutation
Cachexia ORPHA:157973
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Intellectual Developmental Disorder, Autosomal Dominant 54
Small for gestational age, Neutropenia OMIM:617799
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Fine hair ORPHA:1806
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Familial Thrombocytosis
Acute myeloid leukemia, Splenomegaly, Chronic myelogenous leukemia, Weight loss, Thrombocytosis ORPHA:71493
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bipolar affective disorder, Autoim... ORPHA:77293
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Juvenile Dermatomyositis
Calcinosis, Fever, Elevated circulating creatine kinase concentration, Elevated circulating C-rea... ORPHA:93672
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Cafe-au-lait spot, Hypopigmented skin patches, Decreased circulating IgA level ORPHA:457485
Alexander Disease Type I
Failure to thrive, Cachexia ORPHA:363717
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Pleural Mesothelioma
Weight loss ORPHA:50251
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Pontocerebellar Hypoplasia, Type 7
Hypopigmentation of the skin OMIM:614969
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Systemic Capillary Leak Syndrome
Leukocytosis, Weight loss ORPHA:188
Addison Disease
Hyponatremia, Normocytic anemia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka... ORPHA:85138
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Recurrent respiratory infections, Cachexia ORPHA:1389
21Q22.11Q22.12 Microdeletion Syndrome
Recurrent otitis media, Thrombocytopenia, Failure to thrive in infancy, Anemia ORPHA:261323
Noonan Syndrome 4
Thrombocytopenia, Large for gestational age OMIM:610733
Tubulointerstitial Nephritis And Uveitis Syndrome
Fever, Normocytic anemia, Elevated circulating C-reactive protein concentration, Elevated circula... ORPHA:91500
Sialuria
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:3166
Giant Cell Arteritis
Fever, Abnormality of thrombocytes, Recurrent pharyngitis, Depression, Weight loss, Meningitis ORPHA:397
Occipital Horn Syndrome
Recurrent urinary tract infections, Hypothermia ORPHA:198
Bullous Pemphigoid
Weight loss, Recurrent infections ORPHA:703
Idiopathic Hypereosinophilic Syndrome
Fever, Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, H... ORPHA:3260
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy, Failure to thrive OMIM:229600
Loeffler Endocarditis
Eosinophilia, Weight loss ORPHA:75566
Incontinentia Pigmenti
Alopecia, Hypoplastic fingernail, Abnormal fingernail morphology, Eosinophilia, Supernumerary nip... ORPHA:464
Mcdonough Syndrome
Cachexia ORPHA:2471
Chronic Graft Versus Host Disease
Pancytopenia, Weight loss, Recurrent infections ORPHA:99921
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Fever, Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Japanese Encephalitis
Hyponatremia, Fever, Neutrophilia, Increased circulating IgM level, Increased circulating antibod... ORPHA:79139
Glycine Encephalopathy
Lethargy, Hyperglycinemia ORPHA:407
Schimmelpenning-Feuerstein-Mims Syndrome
Hypopigmentation of the skin OMIM:163200
Mandibuloacral Dysplasia
Alopecia, Hyperinsulinemia, Abnormality of skin pigmentation, Sparse hair, Hypoplastic fingernail ORPHA:2457
Bile Acid Synthesis Defect, Congenital, 3
Hematochezia, Splenomegaly, Prolonged prothrombin time OMIM:613812
Lacrimoauriculodentodigital Syndrome
Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... ORPHA:2363
Cog8-Cdg
Spontaneous hematomas, Prolonged prothrombin time ORPHA:95428
Zygomycosis
Fever, Brain abscess, Unusual skin infection, Invasive fungal infection, Neutropenia, Splenic abs... ORPHA:73263
Gm1 Gangliosidosis
Recurrent respiratory infections, Splenomegaly, Hepatosplenomegaly, Weight loss, Failure to thriv... ORPHA:354
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Hereditary Bullous Dystrophy, Macular Type
Spotty hypopigmentation, Hyperpigmentation of the skin ORPHA:1867
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Obesity, Anemia OMIM:620072
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hyperpigmentation of the skin, Splenomegaly, Hypopigmentation of the skin, Thro... OMIM:263700
Granulomatosis With Polyangiitis
Fever, Recurrent respiratory infections, Elevated circulating C-reactive protein concentration, W... ORPHA:900
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Recurrent sinopulmonary infections, Recurrent resp... ORPHA:647
Igg4-Related Kidney Disease
Eosinophilia, Increased circulating IgG4 level, Elevated circulating C-reactive protein concentra... ORPHA:449395
Kaposiform Lymphangiomatosis
Fever, Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia ORPHA:464329
Alagille Syndrome
Keratoconus, Abnormal pupil morphology, Corneal dystrophy ORPHA:52
Primary Hepatic Neuroendocrine Carcinoma
Elevated carcinoembryonic antigen level, Elevated circulating alpha-fetoprotein concentration, We... ORPHA:100085
Christianson Syndrome
Cachexia ORPHA:85278
Isolated Succinate-Coq Reductase Deficiency
Weight loss ORPHA:3208
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy, Failure to thrive OMIM:201470
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... ORPHA:233
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Splenomegaly, Hypopigmented skin patches, ... ORPHA:163746
Complete Atrioventricular Septal Defect
Lethargy, Failure to thrive, Recurrent pneumonia ORPHA:1329
Liver Disease, Severe Congenital
Hyponatremia, Recurrent urinary tract infections, Elevated circulating alpha-fetoprotein concentr... OMIM:619991
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Failure to thrive in infancy, Cachexia OMIM:616801
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume, Recurrent infections OMIM:616737
Prader-Willi Syndrome
Generalized hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopi... OMIM:176270
Digeorge Syndrome
Bipolar affective disorder, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Obesity,... OMIM:188400
Cardiac-Urogenital Syndrome
Accessory spleen, Prolonged bleeding time, Unilateral cryptorchidism, Cryptorchidism OMIM:618280
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Fever, Weight loss ORPHA:79127
Medulloblastoma
Lethargy, Abnormal bone marrow cell morphology ORPHA:616
Budd-Chiari Syndrome
Fever, Splenomegaly, Weight loss ORPHA:131
Sponastrime Dysplasia
Small for gestational age, Recurrent pneumonia, Neutropenia, Decreased circulating antibody level ORPHA:93357
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Hepatosplenomegaly ORPHA:367
Riboflavin Transporter Deficiency
Cachexia ORPHA:97229
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:98754
Eosinophilic Granulomatosis With Polyangiitis
Fever, Eosinophilia, Weight loss ORPHA:183
Nephroblastoma
Fever, Weight loss ORPHA:654
Thymic Neuroendocrine Tumor
Hypercalcemia, Weight loss ORPHA:97289
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... ORPHA:177907
Rat-Bite Fever
Fever, Sepsis, Weight loss, Meningitis, Anemia ORPHA:31205
Microsporidiosis
Fever, Brain abscess, Cachexia, Abnormality of the spleen, Sepsis, Bronchiolitis, Weight loss, Ab... ORPHA:2552
Renpenning Syndrome
Cachexia ORPHA:3242
Yao Syndrome
Recurrent fever, Weight loss OMIM:617321
Lathosterolosis
Thrombocytopenia, Failure to thrive, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:98793
Laryngotracheoesophageal Cleft Type 4
Abnormality of the spleen, Cachexia ORPHA:93941
X-Linked Creatine Transporter Deficiency
Abnormal circulating creatine concentration, Cachexia ORPHA:52503
Craniolenticulosutural Dysplasia
Brittle hair, Abnormality of skin pigmentation, Coarse hair, Sparse hair, Hyperpigmentation of th... ORPHA:50814
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Anterior pituita... ORPHA:177901
Pseudomyxoma Peritonei
Weight loss ORPHA:26790
Acrofrontofacionasal Dysostosis
Brushfield spots, Hypopigmented skin patches ORPHA:1784
Choreoacanthocytosis
Elevated circulating creatine kinase concentration, Acanthocytosis, Abnormal erythrocyte enzyme l... ORPHA:2388
Juvenile Polyposis Of Infancy
Refractory anemia, Cachexia, Hypoalbuminemia, Anemia ORPHA:79076
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Weight loss, Mildly elevated creatine kinase, Depression OMIM:607459
Dyskeratosis Congenita
Recurrent respiratory infections, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Bon... ORPHA:1775
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level OMIM:613070
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Posterior Urethral Valve
Lethargy, Recurrent urinary tract infections ORPHA:93110
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Bone marrow hypocellularity, Anemia OMIM:612199
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Bile Acid Synthesis Defect, Congenital, 4
Hematochezia, Prolonged prothrombin time OMIM:214950
Infantile Krabbe Disease
Cachexia, Recurrent infections, Unexplained fevers, Temperature instability, Failure to thrive ORPHA:206436
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Hypopigmented skin patches ORPHA:1295
Histiocytoid Cardiomyopathy
Fever, Lethargy, Failure to thrive ORPHA:137675
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Pancreatoblastoma
Elevated maternal serum alpha-fetoprotein, Weight loss ORPHA:677
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Congenital Disorder Of Glycosylation, Type Ia
Thrombocytosis, Prolonged prothrombin time, Decreased circulating IgG level, Decreased circulatin... OMIM:212065
Familial Colorectal Cancer Type X
Abnormal circulating creatine concentration, Weight loss, Depression ORPHA:440437
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Oromandibular Dystonia
Weight loss, Depression ORPHA:93958
Glucagonoma
Hypercalcemia, Acanthocytosis, Depression, Weight loss, Normochromic anemia ORPHA:97280
Tetragametic Chimerism
Blood group antigen abnormality, Abnormal cellular immune system morphology, Hypopigmented skin p... ORPHA:199310
Xfe Progeroid Syndrome
Failure to thrive, Hypoalbuminemia, Cachexia OMIM:610965
Aredyld Syndrome
Splenomegaly, Cachexia ORPHA:1133
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Obesity, Weight loss, Hypomagnese... ORPHA:79102
Polycythemia Vera
Myelofibrosis, Splenomegaly, Weight loss, Acute leukemia ORPHA:729
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia ORPHA:163979
22Q11.2 Deletion Syndrome
Bipolar affective disorder, Impaired T cell function, Abnormality of thrombocytes, Splenomegaly, ... ORPHA:567
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Decreased circulating antibody level, Thr... OMIM:274000
Koolen-De Vries Syndrome
Cryptorchidism, Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Fatal Familial Insomnia
Fever, Weight loss OMIM:600072
Granulomatosis With Polyangiitis
Fever, Granulomatosis, Weight loss OMIM:608710
Ruvalcaba Syndrome
Hypopigmented skin patches ORPHA:3121
Lymphoid Interstitial Pneumonia
Fever, Failure to thrive, Severe viral infection, Weight loss ORPHA:79128
Leptospirosis
Fever, Hyperproteinemia, Meningitis, Thrombocytopenia ORPHA:509
Autoimmune Polyendocrinopathy Type 1
Hypopigmented skin patches ORPHA:3453
3-Methylglutaconic Aciduria, Type Viii
Failure to thrive, Neutropenia OMIM:617248
Adrenocortical Carcinoma
Hypokalemia, Increased body weight, Weight loss ORPHA:1501
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Spotty hypopigmentation OMIM:300860
Hepatoerythropoietic Porphyria
Hemolytic anemia, Splenomegaly, Erythroid hyperplasia, Hypopigmentation of the skin, Hyperpigment... ORPHA:95159
Sporadic Pheochromocytoma/Secreting Paraganglioma
Hypercalcemia, Weight loss ORPHA:276621
Curry-Jones Syndrome
Hypopigmented skin patches ORPHA:1553
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Elevated circulating deoxyuridine concentration, Cachexia, Weight loss, Elevated circulating thym... OMIM:603041
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Dubowitz Syndrome
Abnormality of neutrophils, Recurrent infections, Acute lymphoblastic leukemia, Anemia, Thrombocy... ORPHA:235
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia, Decreased body weight OMIM:619005
Prader-Willi Syndrome
Hypopigmentation of hair, Decreased response to growth hormone stimulation test, Cryptorchidism, ... ORPHA:739
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Failure to thrive in infancy, Cachexia ORPHA:702
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Classical Ehlers-Danlos Syndrome
Ecchymosis, Prolonged bleeding time, Bruising susceptibility ORPHA:287
Trichohepatoenteric Syndrome 1
Thrombocytosis, Increased mean platelet volume, Splenomegaly, Decreased circulating antibody leve... OMIM:222470
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Thymic Carcinoma
Weight loss ORPHA:99868
Semilobar Holoprosencephaly
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive ORPHA:220386
Alobar Holoprosencephaly
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive ORPHA:93926
Lobar Holoprosencephaly
Depression, Apathy, Lethargy, Temperature instability, Failure to thrive ORPHA:93924
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Fever, Sepsis, Depression, Neutropenia, Anemia ORPHA:95455
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Short Stature With Microcephaly And Distinctive Facies
Spotty hyperpigmentation, Anisopoikilocytosis, Spotty hypopigmentation, Anemia OMIM:615789
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin OMIM:251300
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time OMIM:617049
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Recurrent respiratory infections, Hypoammonemia, Depression, Anemia, Hypokalemia, H... ORPHA:534
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Anemia, Weight loss, Low-grade fever, Hepatosplenomegaly ORPHA:85408
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time OMIM:614300
Deeah Syndrome
Decreased hemoglobin concentration, Abnormality of temperature regulation, Thrombocytopenia, Decr... OMIM:619004
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Chronic neutropenia, Large for gestational age ORPHA:500095
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Severe failure to thrive, Cachexia ORPHA:371364
Flynn-Aird Syndrome
Cachexia ORPHA:2047
Multiple Endocrine Neoplasia Type 1
Lethargy, Weight loss, Hypercalcemia, Depression ORPHA:652
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Large for gestational age OMIM:617107
Pulmonary Alveolar Microlithiasis
Fever, Abnormal circulating calcium concentration, Weight loss, Increased circulating surfactant ... ORPHA:60025
Gerstmann-Straussler Disease
Bradykinesia, Weight loss, Depression OMIM:137440
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Arterial Tortuosity Syndrome
Keratoconus, Astigmatism OMIM:208050
Kufor-Rakeb Syndrome
Fever, Lethargy, Apathy, Bradykinesia ORPHA:306674
Jacobsen Syndrome
Recurrent respiratory infections, Failure to thrive, Thrombocytopenia OMIM:147791
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Acute Liver Failure
Fever, Thrombocytopenia, Hyperammonemia, Depression ORPHA:90062
Tetrasomy 12P
Cachexia ORPHA:884
Erdheim-Chester Disease
Fever, Anemia, Weight loss ORPHA:35687
Jacobsen Syndrome
Recurrent respiratory infections, Bipolar affective disorder, Bone marrow hypocellularity, Thromb... ORPHA:2308
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Splenomegaly, Melena, Prolonged prothrombin time, Anemia OMIM:276700
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches ORPHA:1647
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hypopigmentation of the skin, Hepatosplenomegaly OMIM:301066
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Hypopigmentation of the skin OMIM:252500
19Q13.11 Microdeletion Syndrome
Recurrent respiratory infections, Failure to thrive, Cachexia ORPHA:217346
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Depression ORPHA:536
Hardikar Syndrome
Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirub... OMIM:301068
Neuropathy, Congenital Hypomyelinating, 3
Cachexia OMIM:618186
Cap Polyposis
Weight loss ORPHA:160148
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Anemia ORPHA:2637
Hereditary Late-Onset Parkinson Disease
Bradykinesia, Weight loss, Apathy, Depression ORPHA:411602
Localized Scleroderma
Hypopigmented skin patches, Hyperpigmentation of the skin, Vitiligo ORPHA:90289
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Microcornea, Retinal detachment, Keratoconus OMIM:225400
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Recurrent pneumoni... ORPHA:731
Vipoma
Hypokalemia, Hypercalcemia, Normochromic anemia, Weight loss ORPHA:97282
Arterial Tortuosity Syndrome
Keratoconus, Keratoglobus ORPHA:3342
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Anaplastic Thyroid Carcinoma
Weight loss ORPHA:142
Velocardiofacial Syndrome
Hypocalcemia, Impaired T cell function, Recurrent infections OMIM:192430
Malignant Peritoneal Mesothelioma
Weight loss ORPHA:168811
Somatostatinoma
Hypercalcemia, Hypochromic microcytic anemia, Weight loss ORPHA:97283
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Abnormal bleeding, Gastrointestinal hemorrhage, Hepatosplenomegaly, Decreased circulating antibod... ORPHA:247598
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Splenomegaly, Prolonged prothrombin time, Polycythemia ORPHA:309854
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Truncal obesity, Thrombocytopenia OMIM:301072
Liposarcoma
Weight loss ORPHA:69078
Oculopharyngodistal Myopathy 1
Elevated circulating creatine kinase concentration, Weight loss OMIM:164310
Koolen-De Vries Syndrome Due To A Point Mutation
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo ORPHA:363965
17Q21.31 Microdeletion Syndrome
Fair hair, Cafe-au-lait spot, Hypopigmentation of the skin, Vitiligo ORPHA:363958
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Abnormality of hair texture ORPHA:88618
Familial Tumoral Calcinosis
Splenomegaly, Hypopigmented skin patches ORPHA:53715
Monosomy 13Q34
Hematochezia, Prolonged prothrombin time, Epistaxis ORPHA:96168
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Cachexia ORPHA:2774
Hereditary Pheochromocytoma-Paraganglioma
Hypercalcemia, Weight loss ORPHA:29072
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Hypopigmented skin patches ORPHA:678
Renal Nutcracker Syndrome
Anemia, Weight loss ORPHA:71273
Glossopharyngeal Neuralgia
Weight loss, Depression ORPHA:221098
Juvenile Amyotrophic Lateral Sclerosis
Head titubation, Cachexia ORPHA:300605
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Recurrent urinary tract infections, Thrombocytopenia,... ORPHA:84
Nocardiosis
Fever, Brain abscess, Liver abscess, Severe infection, Unusual CNS infection, Sepsis, Weight loss... ORPHA:31204
Chromomycosis
Hypopigmented skin patches ORPHA:182
Ogden Syndrome
Recurrent infections, Iron deficiency anemia, Hyperbilirubinemia, Recurrent otitis media, Polycyt... OMIM:300855
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Abetalipoproteinemia
Abnormal bleeding, Reticulocytosis, Acanthocytosis, Prolonged prothrombin time, Anemia ORPHA:14
Klatskin Tumor
Fever, Weight loss ORPHA:99978
Hydranencephaly
Lethargy, Meningitis ORPHA:2177
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Abnormality of skin pigmentation, Hypopigmentation of the skin, Melanocytic nevus OMIM:619475
Neuroendocrine Tumor Of Stomach
Iron deficiency anemia, Weight loss ORPHA:100075
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume, Recurrent infections ORPHA:487796
Goodpasture Syndrome
Fever, Weight loss, Anemia, Increased blood urea nitrogen OMIM:233450
Cystinosis, Nephropathic
Hyponatremia, Failure to thrive in infancy, Splenomegaly, Reduced blood urea nitrogen, Hypophosph... OMIM:219800
Congenital Tufting Enteropathy
Failure to thrive, Weight loss ORPHA:92050
Short Syndrome
Weight loss ORPHA:3163
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Hepatosplenomegaly, Chronic lymphatic leukemia, Increased c... ORPHA:51
8P23.1 Microdeletion Syndrome
Obesity, Weight loss ORPHA:251071
Isolated Biliary Atresia
Splenomegaly, Prolonged prothrombin time ORPHA:30391
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Abnormality of skin pigmentat... ORPHA:920
Schwartz-Jampel Syndrome
Cachexia, Elevated circulating creatine kinase concentration, Malignant hyperthermia, Decreased b... ORPHA:800
Congenital Disorder Of Glycosylation, Type Iiw
Microcytic anemia, Splenomegaly, Anemia, Recurrent otitis media, Failure to thrive, Thrombocytopenia OMIM:619525
Dermatomyositis
Fever, Recurrent respiratory infections, Abnormal eosinophil morphology, Weight loss ORPHA:221
Aspartylglucosaminuria
Recurrent respiratory infections, Vacuolated lymphocytes, Neutropenia OMIM:208400
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Lynch Syndrome
Weight loss, Depression ORPHA:144
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White eyebrow, Hypopigmented skin patches, Hepatosplenomegaly, White forelock, H... OMIM:609136
Congenital Disorder Of Glycosylation, Type It
Decreased serum insulin-like growth factor 1, Prolonged prothrombin time OMIM:614921
Primary Fanconi Renotubular Syndrome
Hypouricemia, Bicarbonaturia, Hypophosphatemia, Weight loss, Hypokalemia, Decreased circulating c... ORPHA:3337
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Silver-Russell Syndrome
Failure to thrive in infancy, Obesity, Cachexia ORPHA:813
Pancreatic Triacylglycerol Lipase Deficiency
Iron deficiency anemia, Weight loss ORPHA:309031
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Mucolipidosis Type Ii
Splenomegaly, Weight loss, Recurrent respiratory infections, Hepatosplenomegaly ORPHA:576
Tropical Endomyocardial Fibrosis
Fever, Increased circulating interleukin 6 concentration, Eosinophilia, Cachexia, Splenomegaly, H... ORPHA:75565
Say-Barber-Miller Syndrome
Transient hypogammaglobulinemia of infancy, Decreased circulating antibody level, Abnormal T cell... ORPHA:3132
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Failure to thrive, Weight loss ORPHA:1018
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Prolonged prothrombin time OMIM:619055
Familial Pancreatic Carcinoma
Weight loss, Peritoneal abscess, Hepatosplenomegaly ORPHA:1333
Mosaic Trisomy 20
Hypopigmented streaks, Depigmentation/hyperpigmentation of skin ORPHA:1724
Parkinson Disease 4, Autosomal Dominant
Weight loss OMIM:605543
Reactive Arthritis
Fever, Recurrent urinary tract infections, Weight loss ORPHA:29207
Ileal Neuroendocrine Tumor
Iron deficiency anemia, Weight loss ORPHA:100078
Xeroderma Pigmentosum
Freckling, Hypopigmented skin patches, Hypermelanotic macule, Melanocytic nevus ORPHA:910
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Abnormality of T cell physiology, Hypocalcemia, Hypocalcemic seizures ORPHA:2237
Behçet Disease
Fever, Splenomegaly, Weight loss, Meningitis, Infectious encephalitis ORPHA:117
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Alkaptonuria
Abnormality of skin pigmentation, Irregular hyperpigmentation, Abnormality of the nail ORPHA:56
X-Linked Intellectual Disability, Cabezas Type
Obesity, Cachexia ORPHA:85293
Eec Syndrome
Generalized hypopigmentation, Hypoplasia of the thymus ORPHA:1896
Camurati-Engelmann Disease
Cachexia, Splenomegaly, Leukopenia, Slender build, Anemia ORPHA:1328
Bronchial Neuroendocrine Tumor
Weight loss ORPHA:97287
Neuroendocrine Tumor Of The Colon
Weight loss ORPHA:100080
Parathyroid Carcinoma
Weight loss, Hypercalcemia, Hypophosphatemia ORPHA:143
Rett Syndrome
Cachexia OMIM:312750
Ppoma
Hypercalcemia, Weight loss ORPHA:97278
Oculogastrointestinal Muscular Dystrophy
Cachexia ORPHA:1876
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Increased body weight, Recurrent cutaneous fungal infections, Depression, Weight lo... ORPHA:99889
Focal Dermal Hypoplasia
Linear hyperpigmentation, Hypopigmentation of the skin, Reticular hyperpigmentation OMIM:305600
Neuroendocrine Tumor Of The Rectum
Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Weight loss ORPHA:100082
Hereditary Acrokeratotic Poikiloderma
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2907
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Cataract, Sclerocornea, Abnormal eyelash morphology, Optic atrophy, Iri... ORPHA:818
Progeroid Short Stature With Pigmented Nevi
Small for gestational age, Impaired T cell function, Recurrent viral infections OMIM:176690
Fryns-Smeets-Thiry Syndrome
Cachexia ORPHA:2058
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait spot OMIM:210720
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Generalized hypopigmentation, Leukocytosis OMIM:619321
Grfoma
Hypercalcemia, Weight loss ORPHA:97261
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Zollinger-Ellison Syndrome
Hypercalcemia, Weight loss ORPHA:913
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Weight loss ORPHA:424
Tsh-Secreting Pituitary Adenoma
Hypokalemia, Weight loss ORPHA:91347
Malignant Atrophic Papulosis
Weight loss ORPHA:679
Pitt-Hopkins Syndrome
Hypopigmented skin patches ORPHA:2896
Osteogenesis Imperfecta
Small for gestational age, Thrombocytopenia ORPHA:666
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Splenomegaly, Prolonged prothrombin time ORPHA:404454
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Generalized hypopigmentation, Fair hair, Blue irides OMIM:604292
Congenital Fiber-Type Disproportion Myopathy
Recurrent respiratory infections, Failure to thrive, Weight loss ORPHA:2020
Pineoblastoma
Lethargy ORPHA:251909
Unilateral Polymicrogyria
Abnormal posturing ORPHA:268943
Systemic Sclerosis
Irregular hyperpigmentation, Spotty hypopigmentation ORPHA:90291
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Hyponatremia, Hyperkalemia, Weight loss, Hypochloremia, Failure to thrive ORPHA:90794
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Generalized hypopigmentation, Fair hair, Blue irides OMIM:129900
Cowden Syndrome
Multiple cafe-au-lait spots, Hypopigmented skin patches, Melanocytic nevus ORPHA:201
Cockayne Syndrome
Splenomegaly, Hyperuricemia, Cachexia ORPHA:191
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Hypopigmented skin patches... ORPHA:2556
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Bannayan-Riley-Ruvalcaba Syndrome
Cachexia ORPHA:109
Kindler Syndrome
Spotty hyperpigmentation, Spotty hypopigmentation OMIM:173650
Trisomy 18
Cachexia ORPHA:3380
Familial Gestational Hyperthyroidism
Weight loss ORPHA:99819
African Trypanosomiasis
Splenomegaly, Weight loss, Hepatosplenomegaly, Apathy, Periodic fever ORPHA:3385
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy OMIM:163950
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Vascular Ehlers-Danlos Syndrome
Keratoconus, Alopecia, Abnormality of hair texture, Abnormal eyelash morphology, Abnormal pupil m... ORPHA:286
Isolated Permanent Neonatal Diabetes Mellitus
Failure to thrive, Weight loss ORPHA:99885
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Cachexia ORPHA:3217
Sotos Syndrome
Acute lymphoblastic leukemia, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:821
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Cachexia ORPHA:220295
X-Linked Intellectual Disability, Snyder Type
Patchy hypo- and hyperpigmentation ORPHA:3063
Seckel Syndrome
Cachexia ORPHA:808
Ehlers-Danlos Syndrome, Vascular Type
Keratoconus, Alopecia of scalp OMIM:130050
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Keratoconjunctivitis sicca ORPHA:285
Tropical Pancreatitis
Weight loss ORPHA:103918
Mend Syndrome
Spotty hypopigmentation ORPHA:401973
Mend Syndrome
Spotty hypopigmentation OMIM:300960
Hutchinson-Gilford Progeria Syndrome
Severe failure to thrive, Weight loss ORPHA:740
Pallister-Killian Syndrome
Hypopigmented streaks, Hypopigmentation of the skin, Hyperpigmented streaks OMIM:601803
Proteus Syndrome
Splenomegaly, Thymus hyperplasia, Cachexia, Recurrent infections ORPHA:744
Stickler Syndrome
Recurrent respiratory infections, Slender build, Cachexia ORPHA:828
Marfan Syndrome
Slender build, Cachexia ORPHA:558
Atypical Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentatio... ORPHA:79474
Norrie Disease
Failure to thrive, Cachexia ORPHA:649
Pmm2-Cdg
Impaired neutrophil chemotaxis ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Rab27a

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Rab27a.

No publications found that use IMPC mice or data for Rab27a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Rab27atm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Rab27atm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Rab27aem1(IMPC)Bay Exon Deletion Mice
Rab27atm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter