Gene Summary

Name:
triggering receptor expressed on myeloid cells-like 1
Synonyms:
5430401J17Rik,  TLT-1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Testis  Wholemount images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote 0.0% (0 of 2)
Embryo N/A heterozygote 50% (1 of 2)
Embryo N/A homozygote 100% (2 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Eye N/A homozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote 0.0% (0 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Forelimb N/A homozygote 0.0% (0 of 2)
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote 0.0% (0 of 2)
Head N/A heterozygote 0.0% (0 of 2)
Head N/A homozygote 0.0% (0 of 2)
Heart N/A heterozygote Not available
Heart N/A homozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote 0.0% (0 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Hindlimb N/A homozygote 0.0% (0 of 2)
Liver N/A heterozygote 50% (1 of 2)
Liver N/A homozygote 50% (1 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote 0.0% (0 of 2)
Mandibular process N/A heterozygote 0.0% (0 of 2)
Mandibular process N/A homozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A homozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A homozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Skin N/A homozygote 0.0% (0 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote 0.0% (0 of 2)
Tail N/A heterozygote 0.0% (0 of 2)
Tail N/A homozygote 0.0% (0 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
vascular system 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 0.0%
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain Ambiguous
hindlimb 0.0%
liver Ambiguous
lung 0.0%
mandibular process 0.0%
maxillary process Ambiguous
midbrain 0.0%
oral cavity 0.0%
skin Ambiguous
tail Ambiguous
tail somite group Ambiguous

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

17 Images

Echo

M-Mode Images

59 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

17 Images

X-ray

XRay Images Whole Body Lateral Orientation

17 Images

Adult LacZ

LacZ Images Wholemount

1 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

Human diseases caused by Treml1 mutations

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

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

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Treml1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Glanzmann Thrombasthenia 2
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired clot retraction, D... OMIM:619267
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Impaired ADP-induced plate... OMIM:618462
Thrombocytopenia 7
Post-partum hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced plat... OMIM:619130
Platelet Signal Processing Defect
Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platel... OMIM:173590
Glanzmann Thrombasthenia 1
Gastrointestinal hemorrhage, Purpura, Impaired epinephrine-induced platelet aggregation, Impaired... OMIM:273800
Bleeding Disorder, Platelet-Type, 18
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Men... OMIM:615888
Bleeding Disorder, Platelet-Type, 11
Abnormal platelet count, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, ... OMIM:614201
Bleeding Disorder, Platelet-Type, 25
Excessive bleeding from superficial cuts, Post-partum hemorrhage, Spontaneous, recurrent epistaxi... OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Abnormal bleeding, Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced pla... OMIM:155100
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired epinephrine-induced platelet aggregation, Impa... OMIM:619271
Bernard-Soulier Syndrome
Purpura, Abnormal bleeding, Giant platelets, Gastrointestinal hemorrhage, Gingival bleeding, Meno... OMIM:231200
Athrombia, Essential
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Impaired platelet adhe... OMIM:209050
Bleeding Disorder, Platelet-Type, 13, Susceptibility To
Abnormal platelet count, Impaired thromboxane A2 agonist-induced platelet aggregation, Ecchymosis... OMIM:614009
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Bleeding Disorder, Platelet-Type, 8
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Ecchymosis, Epistaxis, Persistent b... OMIM:609821
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Thrombocytopenia, Macrothromb... OMIM:124900
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Abnormal bleeding, Giant platelets, Anemia, Impaired platelet aggregation,... OMIM:187800
Von Willebrand Disease, Type 3
Abnormal bleeding, Impaired platelet aggregation, Prolonged bleeding time, Menorrhagia, Joint hem... OMIM:277480
Thrombocytopenia 9
Abnormal bleeding, Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired platelet aggregation, Eczematoid dermatitis, Impaired ADP-induced pla... OMIM:617443
Thrombocythemia 1
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp... OMIM:187950
Platelet Glycoprotein Iv Deficiency
Prolonged bleeding time, Thrombocytopenia, Giant platelets, Abnormal bleeding OMIM:608404
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Glanzmann Thrombasthenia
Spontaneous hematomas, Gastrointestinal hemorrhage, Purpura, Spontaneous, recurrent epistaxis, Gi... ORPHA:849
Bleeding Disorder, Platelet-Type, 17
Abnormal bleeding, Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation... OMIM:187900
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thro... OMIM:314050
Gray Platelet Syndrome
Abnormal bleeding, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granu... OMIM:139090
Slc35A1-Cdg
Abnormal bleeding, Giant platelets, Abnormal platelet granules, Subcutaneous hemorrhage, Thromboc... ORPHA:238459
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal h... ORPHA:231393
Platelet Disorder, Undefined
Impaired platelet aggregation, Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:173420
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Menorrhagia, Joint hemorrhage, Thrombocytopeni... OMIM:601709
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation ORPHA:401945
Von Willebrand Disease, X-Linked Form
Prolonged bleeding time, Abnormal bleeding OMIM:314560
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Petechiae, Gingival bleeding, Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increa... OMIM:153670
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Purpura, Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, P... OMIM:601399
Bleeding Disorder, Platelet-Type, 12
Impaired platelet aggregation, Menorrhagia, Joint hemorrhage, Epistaxis, Intestinal bleeding, Bru... OMIM:605735
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Bleeding Disorder, Platelet-Type, 19
Spontaneous hematomas, Abnormal bleeding, Anemia, Menorrhagia, Thrombocytopenia, Epistaxis, Macro... OMIM:616176
Tatsumi Factor Deficiency
Prolonged bleeding time, Abnormal bleeding OMIM:272650
Hermansky-Pudlak Syndrome 7
Impaired platelet aggregation, Post-partum hemorrhage, Menorrhagia, Epistaxis, Persistent bleedin... OMIM:614076
Myh9-Related Disease
Myocardial infarction, Neutrophil inclusion bodies, Giant platelets, Spontaneous, recurrent epist... ORPHA:182050
Von Willebrand Disease, Type 1
Gastrointestinal hemorrhage, Impaired platelet aggregation, Aortic valve stenosis, Menorrhagia, J... OMIM:193400
Hermansky-Pudlak Syndrome 3
Abnormal bleeding, Impaired platelet aggregation, Spontaneous, recurrent epistaxis, Gingival blee... OMIM:614072
Factor V Deficiency
Prolonged prothrombin time, Abnormal bleeding, Menorrhagia, Epistaxis, Bruising susceptibility, P... OMIM:227400
Hermansky-Pudlak Syndrome 9
Recurrent skin infections, Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Immunodeficiency 81
Autoimmune hemolytic anemia, Decreased proportion of class-switched memory B cells, Petechiae, Sk... OMIM:619374
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Bruising susceptibility, Prolonge... OMIM:137560
Prothrombin Deficiency, Congenital
Prolonged prothrombin time, Gastrointestinal hemorrhage, Gingival bleeding, Menorrhagia, Joint he... OMIM:613679
Gray Platelet Syndrome
Abnormal bleeding, Thrombocytopenia, Splenomegaly, Epistaxis, Bruising susceptibility, Abnormalit... ORPHA:721
Essential Thrombocythemia
Acute leukemia, Abnormal bleeding, Thrombocytosis, Transient ischemic attack, Leukocytosis, Abnor... ORPHA:3318
Bleeding Disorder, Platelet-Type, 20
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Bruising susceptibility, Menorrhagia, Thrombocytopenia, Epistaxis OMIM:613554
Bernard-Soulier Syndrome
Hematemesis, Spontaneous hematomas, Gastrointestinal hemorrhage, Abnormal bleeding, Giant platele... ORPHA:274
Sitosterolemia 1
Abnormal bleeding, Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, ... OMIM:210250
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Menorrhagia, Thrombocy... OMIM:614074
Blue Rubber Bleb Nevus
Prolonged bleeding time, Skin rash, Microcytic anemia, Intestinal bleeding ORPHA:1059
Thrombocytopenia, Paris-Trousseau Type
Prolonged bleeding time, Abnormal bleeding, Thrombocytopenia OMIM:188025
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Hemophilia B
Cephalohematoma, Spontaneous, recurrent epistaxis, Delayed onset bleeding, Joint hemorrhage, Intr... ORPHA:98879
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Chronic otitis media, Abnormal neutrophil count, Myeloproliferative disorder, Leu... ORPHA:3226
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemi... ORPHA:98826
Macrophage Activation Syndrome
Hypertriglyceridemia, Increased circulating interleukin 6 concentration, Hemophagocytosis, Abnorm... ORPHA:158061
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Skin rash, Splenomegaly, Abnormality of tumor necrosis factor secretion, Ne... ORPHA:540
Polycythemia Vera
Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd... OMIM:263300
Wiskott-Aldrich Syndrome 2
Defective T cell proliferation, Decreased proportion of CD8-positive T cells, Eczematoid dermatit... OMIM:614493
Congenital Factor Ii Deficiency
Prolonged prothrombin time, Abnormal bleeding, Cephalohematoma, Anemia, Excessive bleeding from s... ORPHA:325
Wiskott-Aldrich Syndrome
Chronic otitis media, Hematemesis, Spontaneous hematomas, Abnormal platelet function, Sinusitis, ... ORPHA:906
Immune Thrombocytopenia
Purpura, Gastrointestinal hemorrhage, Petechiae, Gingival bleeding, Thrombocytopenia, Epistaxis, ... ORPHA:3002
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Petechiae, B Acute Lymphoblastic Leukemia, Thrombocyto... OMIM:616216
Acquired Purpura Fulminans
Prolonged prothrombin time, Elevated circulating C-reactive protein concentration, Macular purpur... ORPHA:49566
Acute Lung Injury
Abnormal circulating cytokine concentration, Increased circulating interleukin 6 concentration, E... ORPHA:178320
Systemic Lupus Erythematosus 17
Myelitis, Malar rash, Optic neuritis, Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud ... OMIM:301080
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Impaired collagen-induced platelet aggregation, Menorrhagia, Epistaxis, Bruisi... OMIM:619172
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Decreased circulating antibody level, Abnormal plat... ORPHA:2585
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level, Thrombocytopenia, Abnormal bleeding, Glomerulonephritis OMIM:314000
Storage Pool Platelet Disease
Acute leukemia, Prolonged bleeding time, Abnormal bleeding, Decreased mean platelet volume OMIM:185050
Von Willebrand Disease
Gastrointestinal hemorrhage, Muscle hemorrhage, Petechiae, Abnormal platelet function, Menorrhagi... ORPHA:903
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Anemia, Hemophagocytosis, Skin rash, Thrombocytopenia, Splenomegaly, Conjun... OMIM:603552
Neurofibromatosis-Noonan Syndrome
Pulmonic stenosis, Prolonged bleeding time, Hypertrophic cardiomyopathy ORPHA:638
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Wiskott-Aldrich Syndrome
Hematemesis, Small vessel vasculitis, Impaired lymphocyte transformation with phytohemagglutinin,... OMIM:301000
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Dengue Fever
Gastrointestinal hemorrhage, Petechiae, Skin rash, Hypoproteinemia, Gingival bleeding, Hypotensio... ORPHA:99828
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Decreased circulating antibody level, Abnormal na... OMIM:613101
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Dysgammaglobulinemia, Hemophagocytosis, Elevated circulating C-reactive protein ... OMIM:308240
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Acquired Idiopathic Sideroblastic Anemia
Congestive heart failure, Normocytic anemia, Abnormal bleeding, Acute myeloid leukemia, Normochro... ORPHA:75564
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Petechiae, Anemia of inadequate production, Poikilocytosis, Epistaxis, Persistent bleeding after ... OMIM:300367
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Klippel-Trénaunay Syndrome
Congestive heart failure, Gastrointestinal hemorrhage, Internal hemorrhage, Prolonged bleeding ti... ORPHA:90308
Aicardi-Goutieres Syndrome 6
Chilblains, Thrombocytopenia, Splenomegaly, Increased circulating Interferon-alpha concentration,... OMIM:615010
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Chronic oral candidiasis, Recurrent otitis media, Periodontitis, ... OMIM:608233
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Gingival bleeding, Retinal hemorrhage, Bone marrow hypoc... ORPHA:88
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Malar rash, Petechiae, Prolonged Q... ORPHA:231111
Combined Deficiency Of Factor V And Factor Viii
Prolonged prothrombin time, Gastrointestinal hemorrhage, Hyperuricemia, Gingival bleeding, Hyperl... ORPHA:35909
Malaria
Hyperbilirubinemia, Thrombocytopenia, Anemia, Elevated circulating C-reactive protein concentration ORPHA:673
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Acute Myelomonocytic Leukemia
Abnormal bleeding, Anemia, Leukocytosis, Thrombocytopenia, Eosinophilia ORPHA:517
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Decreased circulating antibody level, Recurrent pneumonia, Thrombocy... OMIM:616576
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
Thrombocytopenia 10
Abnormal bleeding, Decreased mean platelet volume, Petechiae, Spontaneous, recurrent epistaxis, M... OMIM:620484
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Abnormal bleeding, Thrombocytopenia, Splenomegaly, Bruising susce... ORPHA:231401
Relapsing Fever
Prolonged prothrombin time, Abnormal bleeding, Anemia, Elevated circulating C-reactive protein co... ORPHA:91547
Thrombocytopenia 1
Decreased mean platelet volume, Petechiae, Increased circulating IgE level, Increased circulating... OMIM:313900
Immunodeficiency 46
Chronic oral candidiasis, Anemia, Decreased circulating antibody level, Intermittent thrombocytop... OMIM:616740
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Chilblains OMIM:610329
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia... OMIM:603585
Transcobalamin Deficiency
Pancytopenia, Decreased circulating antibody level, Decreased circulating IgG level, Thrombocytop... ORPHA:859
Congenital Factor X Deficiency
Prolonged prothrombin time, Spontaneous hematomas, Gastrointestinal hemorrhage, Post-partum hemor... ORPHA:328
Bone Marrow Failure Syndrome 4
Anemia, Decreased circulating antibody level, Eczematoid dermatitis, Bone marrow hypocellularity,... OMIM:618116
Stuve-Wiedemann Syndrome 2
Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension, Eczematoid dermatitis OMIM:619751
Adult Acute Respiratory Distress Syndrome
Pancreatitis, Increased circulating interleukin 6 concentration, Vasculitis, Hypotension, Abnorma... ORPHA:70578
Sweet Syndrome
Small vessel vasculitis, Increased circulating interleukin 6 concentration, Acute myeloid leukemi... ORPHA:3243
Mixed Connective Tissue Disease
Myocarditis, Gastrointestinal hemorrhage, Purpura, Keratoconjunctivitis sicca, Gastritis, Myositi... ORPHA:809
Nephrotic Syndrome, Type 7
Membranoproliferative glomerulonephritis, Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Aplasia Cutis Congenita
Prolonged bleeding time ORPHA:1114
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Congenital Factor Vii Deficiency
Prolonged prothrombin time, Gastrointestinal hemorrhage, Post-partum hemorrhage, Gingival bleedin... ORPHA:327
Neonatal Lupus Erythematosus
Aplastic anemia, Abnormal bleeding, Heart block, Anemia, Prolonged QT interval, Maculopapular exa... ORPHA:398124
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Abnormal circulating eicosanoid concentration, Iron deficiency anemia, Impaired platelet aggregat... OMIM:618372
Refractory Anemia With Excess Blasts
Abnormal bleeding, Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal c... ORPHA:86839
Hermansky-Pudlak Syndrome 1
Gingival bleeding, Cardiomyopathy, Inflammation of the large intestine, Epistaxis, Hematochezia, ... OMIM:203300
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Reduced delayed hypersensitivity, Gastrointestinal hemorrhage, Iron ... OMIM:603909
Hermansky-Pudlak Syndrome 8
Excessive bleeding from superficial cuts, Impaired platelet aggregation, Gingival bleeding, Menor... OMIM:614077
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Increased circulating antibody level, Thrombocytopenia, Splenomegaly, Leukopenia, Extrame... OMIM:615285
Fetal And Neonatal Alloimmune Thrombocytopenia
Spontaneous hematomas, Abnormal bleeding, Gastrointestinal hemorrhage, Purpura, Melena, Cephalohe... ORPHA:853
Factor X Deficiency
Prolonged prothrombin time, Gingival bleeding, Menorrhagia, Joint hemorrhage, Epistaxis, Intracra... OMIM:227600
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Impaired platelet adhesion, Oral cavity bleeding, Superficial dermal... ORPHA:324636
Immunodeficiency 97 With Autoinflammation
Hypertriglyceridemia, Splenomegaly, Lymphopenia, Monocytopenia, Reduced natural killer cell count... OMIM:619802
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, Bo... OMIM:607616
Immunodeficiency 32B
Anemia, Abnormal circulating IgG level, Bronchiectasis, Eosinophilia, Sinusitis, Neutrophilia, Th... OMIM:226990
Systemic Lupus Erythematosus
Malar rash, Arthritis, Pericarditis, Nephritis, Thrombocytopenia, Leukopenia, Hemolytic anemia, L... OMIM:152700
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Non-Involuting Congenital Hemangioma
Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin ORPHA:141179
Erythroleukemia, Familial, Susceptibility To
Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplasia, Leukemia OMIM:133180
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Anemia, Hemophagocytosis, Elevated circulating C-reactive protein co... OMIM:613011
Isolated Agammaglobulinemia
Pneumonia, Anemia, Inflammatory abnormality of the eye, Arthritis, Skin rash, Abnormal lymphocyte... ORPHA:229717
Leishmaniasis
Abnormal bleeding, Anemia, Increased circulating antibody level, Pancytopenia, Abnormal macrophag... ORPHA:507
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Increased circulating IgE level, Megaloblastic anemia, Atopic dermatitis, D... OMIM:620603
Hermansky-Pudlak Syndrome 6
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Impaired collagen-indu... OMIM:614075
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Skin rash, Lymphopenia, Thrombocytopenia, Anterior uveitis, Hemolytic anemia, Colitis OMIM:616744
Wolfram Syndrome 2
Impaired collagen-induced platelet aggregation, Abnormal bleeding, Decreased circulating antibody... OMIM:604928
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Decreased serum creatinine, Arrhythmia, Thrombocytopenia, Microangiopathic hemol... ORPHA:54057
Snakebite Envenomation
Abnormal bleeding, Gingival bleeding, Cerebral ischemia, Hypotension, Hyponatremia, Cardiogenic s... ORPHA:449285
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Tularemia
Pneumonia, Anemia, Increased circulating antibody level, Inflammatory abnormality of the eye, Tac... ORPHA:3392
Aicardi-Goutieres Syndrome 5
Increased circulating interferon-gamma concentration, Thrombocytopenia, Chilblains OMIM:612952
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Thrombocytopenia, Telangiectasia of the skin ORPHA:141184
Thrombocytopenia 3
Decreased mean platelet volume, Petechiae, Thrombocytopenia, Epistaxis OMIM:273900
Agammaglobulinemia 9, Autosomal Recessive
Seborrheic dermatitis, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Absent circul... OMIM:619693
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Hepatoportal Sclerosis
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleeding, Anemia, Hyperbilirubi... ORPHA:64743
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, Decreased circulating antibody level, T lymphocytopenia, Thrombocytope... ORPHA:169079
Proteasome-Associated Autoinflammatory Syndrome 2
Elevated circulating C-reactive protein concentration, Increased circulating IgG level, B lymphoc... OMIM:618048
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Acute Promyelocytic Leukemia
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Stomatitis, Petechiae, Gingival bleeding, Leuko... ORPHA:520
Rhabdoid Tumor
Anemia, Hypertension, Internal hemorrhage, Hypercalcemia, Thrombocytopenia ORPHA:69077
Vexas Syndrome
Nasal chondritis, Macrocytic anemia, Arteritis, Elevated circulating C-reactive protein concentra... OMIM:301054
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Hemophagocytic Lymphohistiocytosis, Familial, 1
Prolonged prothrombin time, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia... OMIM:267700
Transaldolase Deficiency
Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concentration, Th... ORPHA:101028
Congenital Enterovirus Infection
Myocarditis, Abnormal bleeding, Anemia, Abnormal macrophage morphology, Skin rash, Cardiomyopathy... ORPHA:292
Beta-Thalassemia
Abnormality of iron homeostasis, Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomeg... ORPHA:848
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, Decreased specific antibody response to vaccination, Recurrent sinusitis, Sp... OMIM:614700
Noonan Syndrome 12
Thrombocytopenia, Supravalvular aortic stenosis, Atopic dermatitis, Lymphopenia OMIM:618624
Acyl-Coa Dehydrogenase 9 Deficiency
Prolonged prothrombin time, Congestive heart failure, Cerebellar hemorrhage, Decreased circulatin... ORPHA:99901
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Leukop... ORPHA:27
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased mean platelet vol... OMIM:617718
Pseudo-Torch Syndrome 3
Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Increased circulating fer... OMIM:618886
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Anemia, Cardiomyopathy, Hyperammonemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Mgat2-Cdg
Abnormal bleeding, Impaired lymphocyte transformation with phytohemagglutinin, Impaired platelet ... ORPHA:79329
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Thrombocytopenia, Raynaud phenomenon OMIM:615750
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Hemophagocytic Lymphohistiocytosis, Familial, 2
Prolonged prothrombin time, Hypertriglyceridemia, Anemia, Hemophagocytosis, Pancytopenia, Skin ra... OMIM:603553
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Chronic oral candidiasis, Recurrent aphthous stomatitis, B lymphocytopenia, Recurrent pneumonia, ... OMIM:150550
X-Linked Agammaglobulinemia
Chronic otitis media, Anemia, Hypocalcemia, Arthritis, Skin rash, Sinusitis, Recurrent pneumonia,... ORPHA:47
Boutonneuse Fever
Increased circulating IgG level, Petechiae, Skin rash, Vasculitis, Increased circulating IgM leve... ORPHA:83313
Acquired Von Willebrand Syndrome
Prolonged prothrombin time, Normocytic anemia, Gastrointestinal hemorrhage, Melena, Aortic regurg... ORPHA:99147
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Isovaleric Acidemia
Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:243500
Primary Myelofibrosis
Abnormal bleeding, Purpura, Anemia, Pancytopenia, Petechiae, Extramedullary hematopoiesis, Leukoc... ORPHA:824
Stormorken Syndrome
Abnormal bleeding, Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentratio... OMIM:185070
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Increased circulating antibody level, Melena, Acu... ORPHA:319218
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Arthritis, Increased circulating IgE level, Decreased FOXP3-expressing T cell count, Ecze... OMIM:304790
Portal Hypertension, Noncirrhotic, 2
Petechiae, Portal hypertension, Ecchymosis, Epistaxis, Thrombocytopenia, Splenomegaly OMIM:619463
Hemophilia B
Hematemesis, Prolonged prothrombin time, Gastrointestinal hemorrhage, Melena, Petechiae, Joint he... OMIM:306900
Catastrophic Antiphospholipid Syndrome
Abnormal circulating cytokine concentration, Myocarditis, Myocardial infarction, Angina pectoris,... ORPHA:464343
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th... ORPHA:49827
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Zika Virus Disease
Myelitis, Arthritis, Skin rash, Increased circulating IgM level, Thrombocytopenia, Pruritus, Infe... ORPHA:448237
Thrombocytopenia 2
Abnormal platelet shape, Leukocytosis, Thrombocytopenia, Bruising susceptibility, Abnormal platel... OMIM:188000
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anemia, Increased proportion of CD25+ mast cells, Maculopapular exan... ORPHA:98850
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bacterial Toxic-Shock Syndrome
Skin rash, Sinusitis, Elevated circulating creatinine concentration, Myocarditis, Hypocalcemia, I... ORPHA:36234
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Elevated circulating C-reactive protein concentration, Neutrophilia, Thrombocyt... OMIM:619644
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Fetal Cytomegalovirus Syndrome
Anemia, Petechiae, Retinal hemorrhage, Thrombocytopenia, Splenomegaly, Conjugated hyperbilirubine... ORPHA:294
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Ab... ORPHA:35858
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly OMIM:269600
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Propionic Acidemia
Cerebellar hemorrhage, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Eczematoid dermatitis,... OMIM:606054
Leukocyte Adhesion Deficiency
Perianal abscess, Severe periodontitis, Impaired platelet aggregation, Sinusitis, Bone marrow hyp... ORPHA:2968
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Anemia, Increased mean corpuscular volume, Hypertension, Pulmonary arterial hypertension, Siderob... OMIM:617021
Babesiosis
Congestive heart failure, Myocardial infarction, Thrombocytopenia, Leukopenia, Splenomegaly, Hemo... ORPHA:108
Aregenerative Anemia
Abnormal bleeding, Erythroid hypoplasia, Pancytopenia, Abnormal proportion of CD8-positive T cell... ORPHA:101096
Vulvovaginal Gingival Syndrome
Abnormality of tumor necrosis factor secretion, Pruritus ORPHA:83453
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Portal hypertension, Bone marrow hypocellularity, Thrombocytopenia, Hepatosplenomegaly, Increased... ORPHA:210136
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Blepharitis, Thrombocytopenia, Splenomegaly ORPHA:158029
Prolidase Deficiency
Diffuse telangiectasia, Anemia, Increased circulating antibody level, Petechiae, Eczematoid derma... OMIM:170100
Immunodeficiency With Hyper-Igm, Type 1
Chronic oral candidiasis, Dysgammaglobulinemia, Decreased circulating IgE, Sclerosing cholangitis... OMIM:308230
Atelis Syndrome 1
Anemia, Eczematoid dermatitis, Thrombocytopenia, Leukopenia, Bronchiectasis, Glue ear OMIM:620184
Thyrocerebrorenal Syndrome
Nephritis, Thrombocytopenia ORPHA:3327
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Methylmalonic acidemia, Pancreatitis, Cardiomyopathy, Hyperammonemia, Thro... OMIM:251000
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Chronic oral candidiasis, Recurrent otitis media, Hemophagocytosis, ... OMIM:301078
Immunodeficiency 22
Chronic oral candidiasis, Anemia, Decreased circulating IgE, Panniculitis, Capillary leak, Decrea... OMIM:615758
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Abnormal leukocyte morphology, Skin rash, Abnormal platelet function, Hypop... ORPHA:167
Gaucher Disease, Type I
Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve stenosis, Throm... OMIM:230800
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Abnormal circulating interferon-gamma concentration, Anemia, Panhypogammaglobulinemia, Pancytopen... ORPHA:79124
Avian Influenza
Congestive heart failure, Myelitis, Elevated circulating C-reactive protein concentration, Lympho... ORPHA:454836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612924
Marburg Hemorrhagic Fever
Prolonged prothrombin time, Increased circulating antibody level, Bradycardia, Skin rash, Reticul... ORPHA:99826
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency
Prolonged prothrombin time, Abnormal bleeding, Epistaxis OMIM:610842
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612926
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Sengers Syndrome
Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, S... OMIM:212350
Dentinogenesis Imperfecta
Bruising susceptibility, Prolonged bleeding time ORPHA:49042
Yellow Fever
Hematemesis, Prolonged prothrombin time, Abnormal bleeding, Increased circulating interleukin 6 c... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Anemia, Increased circulating antibody level, Panniculitis, Myositis, Arthr... OMIM:617591
Acute Radiation Syndrome
Abnormal bleeding, Hypotension, Inflammatory abnormality of the skin, Thrombocytopenia, Lymphopen... ORPHA:454831
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Pulmonary arterial hypertension, Increased blood urea nitrog... OMIM:613845
Felty Syndrome
Chronic otitis media, Anemia, Arthritis, Abnormal lymphocyte morphology, Synovitis, Sinusitis, Pe... ORPHA:47612
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoproteinemia, Erythroderma, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Gaucher Disease Type 1
Abnormal bleeding, Decreased HDL cholesterol concentration, Anemia, Increased circulating antibod... ORPHA:77259
Congenital Fibrinogen Deficiency
Prolonged prothrombin time, Abnormal bleeding, Gingival bleeding, Internal hemorrhage, Splenic ru... ORPHA:335
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Hyponatremia, Thrombocytopenia, Cerebral vasculitis ORPHA:83601
Crimean-Congo Hemorrhagic Fever
Hematemesis, Spontaneous hematomas, Bradycardia, Hypertension, Leukopenia, Splenomegaly, Epistaxi... ORPHA:99827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Hypertension, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic... OMIM:612925
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Arrhythmia, Thiamine-responsive megalobla... OMIM:249270
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Holocarboxylase Synthetase Deficiency
Perioral eczema, Keratoconjunctivitis, Eczematoid dermatitis, Hyperammonemia, Thrombocytopenia ORPHA:79242
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Prolonged prothrombin time, Hypertriglyceridemia, Gastrointestinal hemorrhage, Abnormal circulati... ORPHA:247598
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia OMIM:274240
Pelger-Huet Anomaly
Recurrent otitis media, Giant platelets, Hyposegmentation of neutrophil nuclei, Eczematoid dermat... OMIM:169400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Purpura, Hypertension, Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocyt... OMIM:235400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Cyclic Neutropenia
Perianal abscess, Periodontitis, Lymphopenia, Sinusitis, Enterocolitis, Thrombocytopenia, Otitis ... ORPHA:2686
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Pulmonary arterial hypertension... OMIM:614857
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Prolonged prothrombin time, Abnormal bleeding, Joint hemorrhage, Epistaxis, Cerebral hemorrhage, ... OMIM:277450
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Anemia, Skin rash, Abnormal lymphocyte morphology, Rheumatoid arthri... ORPHA:100026
Overlap Myositis
Abnormal circulating lipid concentration, Arthritis, Hypertension, Elevated circulating creatine ... ORPHA:206572
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158048
Sepsis In Premature Infants
Abnormal bleeding, Purpura, Anemia, Increased circulating interleukin 6 concentration, Elevated c... ORPHA:90051
Tufted Angioma
Petechiae, Thrombocytopenia, Anemia, Purpura ORPHA:1063
Macs Syndrome
Bronchiectasis, Prolonged bleeding time, Recurrent aphthous stomatitis, Bruising susceptibility OMIM:613075
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Immunodeficiency 40
Chronic oral candidiasis, Recurrent otitis media, Focal active colitis, Reduced antigen-specific ... OMIM:616433
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Anemia ORPHA:2123
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Hypertension, Epistaxis, Elevated circulating creatinine concentration, Increased ci... ORPHA:340
Specific Granule Deficiency 2
Recurrent otitis media, Anemia, Recurrent pneumonia, Thrombocytopenia, Absent neutrophil specific... OMIM:617475
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia, At... ORPHA:3240
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracranial hemorrhage ORPHA:85212
Preeclampsia
Elevated diastolic blood pressure, Elevated systolic blood pressure, Hypertension, Thrombocytopen... ORPHA:275555
Lujo Hemorrhagic Fever
Myocarditis, Purpura, Elevated circulating C-reactive protein concentration, Bradycardia, Skin ra... ORPHA:319213
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematemesis, Gastrointestinal hemorrhage, Muscle hemorrhage, Melena, Hyperbilirubinemia, Retinal ... ORPHA:464321
Thrombotic Thrombocytopenic Purpura, Hereditary
Transient ischemic attack, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Micr... OMIM:274150
Aicardi-Goutieres Syndrome 4
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pancytopenia OMIM:610333
Wilson Disease
Anemia, Acute hepatitis, Arthritis, Thrombocytopenia, Splenomegaly, Bruising susceptibility, Hepa... ORPHA:905
Osteopetrosis, Autosomal Recessive 4
Anemia, Petechiae, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Griscelli Syndrome
Abnormal circulating lipid concentration, Decreased circulating antibody level, Bone marrow hypoc... ORPHA:381
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Hypokalemia, Impaired platelet aggregation, Hypochloremia, Low-to-normal blood ... OMIM:241200
Psoriasis-Related Juvenile Idiopathic Arthritis
Iritis, Malar rash, Skin rash, Oligoarthritis, Sacroiliac arthritis, Enthesitis, Iridocyclitis, A... ORPHA:85436
Hellp Syndrome
Prolonged prothrombin time, Decreased mean corpuscular hemoglobin concentration, Hypotension, Int... ORPHA:244242
Infantile Liver Failure Syndrome 2
Prolonged prothrombin time, Hyperammonemia, Cardiomyopathy OMIM:616483
Osteogenesis Imperfecta, Type Xvi
Bruising susceptibility, Prolonged bleeding time OMIM:616229
Letterer-Siwe Disease
Anemia, Stomatitis, Seborrheic dermatitis, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia, Elevated circulating creatinine concentration, Pulmonary ... ORPHA:90060
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormal circulating interferon-gamma concentration, Autoimmune hemolytic anemia, Congestive hear... ORPHA:391487
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Ischemic stroke, Anemia, Pancreatitis, Abnormal proportion of naive CD4... ORPHA:1830
Rift Valley Fever
Hematemesis, Abnormal bleeding, Anemia, Melena, Increased circulating IgG level, Skin rash, Gingi... ORPHA:319251
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Skin rash ORPHA:290
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Anemia, Panniculitis, B lymphocytopenia, Noncompaction cardiomyopathy, ... ORPHA:508542
Bile Acid Synthesis Defect, Congenital, 4
Prolonged prothrombin time, Giant cell hepatitis, Hyperbilirubinemia, Decreased serum bile acid c... OMIM:214950
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Methylmalonic acidemia, Anemia, Pancyt... OMIM:251110
Congenital Disorder Of Glycosylation, Type Iil
Decreased specific anti-polysaccharide antibody level, Abnormal bleeding, Pancytopenia, Elevated ... OMIM:614576
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Dermatosparaxis Ehlers-Danlos Syndrome
Prolonged bleeding time, Esophagitis ORPHA:1901
Q Fever
Myocarditis, Purpura, Abnormal left ventricular function, Anemia, Increased circulating antibody ... ORPHA:781
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Normochromic anemia, Bradycardia, Elevated circulating creatine kin... OMIM:618775
Chediak-Higashi Syndrome
Anemia, Hemophagocytosis, Periodontitis, Spontaneous, recurrent epistaxis, Recurrent bacterial sk... OMIM:214500
Mevalonic Aciduria
Morbilliform rash, Fluctuating splenomegaly, Anemia, Elevated circulating C-reactive protein conc... OMIM:610377
Shigellosis
Myocarditis, Abnormal blood ion concentration, Purpura, Acute colitis, Arthritis, Splenic abscess... ORPHA:810
Good Syndrome
Anemia, Abnormal leukocyte morphology, Decreased circulating antibody level, Sinusitis, Thrombocy... ORPHA:169105
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Pancreatitis, Hypokalemia, Acute colitis, Hypertension, Leukocytosis, Reticulocytosis, Unconjugat... ORPHA:90038
Tafro Syndrome
Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei... ORPHA:457077
Osteopetrosis, Autosomal Recessive 2
Chronic rhinitis due to narrow nasal airway, Anemia, Pancytopenia, Thrombocytopenia, Hepatospleno... OMIM:259710
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Pediatric Systemic Lupus Erythematosus
Malar rash, Arthritis, Skin rash, Discoid lupus rash, Lymphopenia, Myositis, Nephritis, Thrombocy... ORPHA:93552
Neuroleptic Malignant Syndrome
Hyperkalemia, Pulmonary embolism, Bradycardia, Hypocalcemia, Hyperuricemia, Hypertension, Leukocy... ORPHA:94093
Hypermethioninemia Due To Adenosine Kinase Deficiency
Prolonged prothrombin time, Elevated circulating S-adenosyl-L-homocysteine concentration, Hyperbi... OMIM:614300
Mirage Syndrome
Hyperkalemia, Anemia, Petechiae, Aspiration pneumonia, Hyponatremia, Hypoplastic spleen, Thromboc... OMIM:617053
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Anemia, Hypertrophic cardiomyopathy, Bone marrow hypocellularity, Incre... OMIM:617303
Hereditary Folate Malabsorption
Cheilitis, Pancytopenia, Megaloblastic anemia, Decreased circulating antibody level, Thrombocytop... ORPHA:90045
Necrotizing Enterocolitis
Shock, Bradycardia, Leukocytosis, Hypotension, Hyponatremia, Thrombocytopenia, Peritonitis, Neutr... ORPHA:391673
Gaucher Disease, Type Iii
Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Anemia, Pancytopenia, Stomatitis, Hyperhomocystinemia, Megaloblastic anem... OMIM:277380
Aicardi-Goutieres Syndrome 7
Hematemesis, Anemia, Increased circulating antibody level, Pancytopenia, Arthritis, Skin rash, Hy... OMIM:615846
Pediatric-Onset Graves Disease
Congestive heart failure, Atrial fibrillation, Neutropenia in presence of anti-neutropil antibodi... ORPHA:525731
Brucellosis
Pericarditis, Leukopenia, Splenomegaly, Anterior uveitis, Myocarditis, Increased circulating IgG ... ORPHA:1304
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Purpura, Amegakaryocytic thrombocytopenia, Petechiae, Congenital thrombocytopenia OMIM:605432
Blue Rubber Bleb Nevus
Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding OMIM:112200
3-Methylglutaconic Aciduria, Type Viib
Prolonged prothrombin time, Congestive heart failure, Abnormal bleeding, Recurrent pneumonia, Thr... OMIM:616271
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Anemia, Bone-marrow foam cells, In... OMIM:278000
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Psoriasiform dermatitis, Chronic si... OMIM:606593
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Cholecyst... OMIM:620367
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Dilated cardiomyopathy, Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:611126
Caroli Syndrome
Hematemesis, Abnormal bleeding, Pancreatitis, Cholangitis, Melena, Hyperbilirubinemia, Leukocytos... ORPHA:480520
Idiopathic Hypereosinophilic Syndrome
Splenomegaly, Cholangitis, Supraventricular arrhythmia, Transient ischemic attack, Neutrophilia, ... ORPHA:3260
Autoinflammatory Disease, Systemic, With Vasculitis
Small vessel vasculitis, Increased T cell count, Splenomegaly, Increased circulating interleukin ... OMIM:620376
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Anemia, Abnormal immunoglobulin level, Pancytopenia, Decreased circul... OMIM:242900
Pseudo-Torch Syndrome 2
Petechiae, Thrombocytopenia, Cerebral hemorrhage, Bradycardia OMIM:617397
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Thrombocytopenia, Elevated circulating creatinine concentration, Anemia OMIM:608104
Congenital Syphilis
Myocarditis, Purpura, Anemia, Pancreatitis, Petechiae, Synovitis, Rhinitis, Thrombocytopenia, Hep... ORPHA:499009
Kaposiform Lymphangiomatosis
Abnormal bleeding, Epidural hemorrhage, Anemia, Abnormal spleen morphology, Thrombocytopenia, Spl... ORPHA:464329
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Retinitis Pigmentosa And Erythrocytic Microcytosis
Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ... OMIM:616959
Aicardi-Goutieres Syndrome 1
Purpura, Petechiae, Vasculitis, Cardiomyopathy, Chilblains, Thrombocytopenia, Splenomegaly OMIM:225750
Shwachman-Diamond Syndrome
Aplastic anemia, Macrocytic anemia, Skin rash, Chronic neutropenia, Sinusitis, Bone marrow hypoce... ORPHA:811
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Anemia, Hemophagocytosis, Pancreatitis, Intraalveol... OMIM:222700
Castleman Disease
Increased circulating interleukin 6 concentration, Anemia, Elevated circulating C-reactive protei... ORPHA:160
Kasabach-Merritt Phenomenon
Prolonged prothrombin time, Purpura, Anemia, Petechiae, Reticulocytosis, Leukopenia, Thrombocytop... ORPHA:2330
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Prolonged prothrombin time, Congestive heart failure, Portal hypertension, Hepatosplenomegaly, Hy... ORPHA:367
Celiac Disease, Susceptibility To, 1
Prolonged prothrombin time, Recurrent aphthous stomatitis, Iron deficiency anemia, Thrombocytosis... OMIM:212750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Panniculitis, Hypoplasia of the thymus, Pulmonary... OMIM:612541
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Anemia, Portal hypertension, Lymphopenia OMIM:620365
Infection-Related Hemolytic Uremic Syndrome
Myocarditis, Hyperkalemia, Increased circulating interleukin 6 concentration, Pancreatitis, Acute... ORPHA:544482
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... ORPHA:470
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone marrow hyp... OMIM:127550
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro... OMIM:613990
S-Adenosylhomocysteine Hydrolase Deficiency
Prolonged prothrombin time, Abnormal circulating homocysteine concentration, Abnormal circulating... ORPHA:88618
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged prothrombin time, Prolonged QT interval, Decreased circulating carnitine concentration,... ORPHA:71212
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Bile Acid Synthesis Defect, Congenital, 3
Prolonged prothrombin time, Hyperbilirubinemia, Hematochezia, Splenomegaly, Hepatitis OMIM:613812
Leptospirosis
Hyperproteinemia, Optic neuritis, Skin rash, Hypotension, Retinal hemorrhage, Pericarditis, Throm... ORPHA:509
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia OMIM:620475
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia, Eczematoid dermatitis ORPHA:96181
Congenital Erythropoietic Porphyria
Abnormal bleeding, Increased erythrocyte protoporphyrin concentration, Reduced haptoglobin level,... ORPHA:79277
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Dilated... OMIM:613989
Primary Sjögren Syndrome
Increased circulating antibody level, Normochromic anemia, Optic neuritis, Leukopenia, Lymphopeni... ORPHA:289390
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly, Osteomyelitis OMIM:259700
Interstitial Cystitis
Elevated circulating C-reactive protein concentration, Abnormality of tumor necrosis factor secre... ORPHA:37202
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Anemia, Pulmonary arterial hypertension, Tricuspid regurgitation, Hyper... ORPHA:505248
Neuroblastoma
Abnormal bleeding, Anemia, Hypertension, Thrombocytopenia, Increased circulating ferritin concent... ORPHA:635
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Transaldolase Deficiency
Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Telangiectasia OMIM:606003
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Cardiomyopathy, Thrombocytopenia OMIM:222300
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Skin rash, Thrombocytopenia OMIM:253270
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Pulmonic stenosis, Thrombocytopenia, Leukopen... OMIM:301056
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Anemia, Reduced haptoglobin level, Pancytopenia, Hypertension, Abnormal er... ORPHA:447
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Pancytopenia OMIM:613987
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased circulating antibody lev... OMIM:256040
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Noonan Syndrome 4
Abnormal bleeding, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thrombocytopenia, Bruising sus... OMIM:610733
Alg12-Cdg
Prolonged prothrombin time, Partial absence of specific antibody response to Haemophilus influenz... ORPHA:79324
Immunodeficiency 47
Decreased circulating total IgG, Normocytic anemia, Decreased circulating copper concentration, A... OMIM:300972
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Increased mean platelet volume, Thrombocytopenia OMIM:300048
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Giant cell hepatitis, Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Congenital Bile Acid Synthesis Defect Type 2
Prolonged prothrombin time, Giant cell hepatitis, Hyperbilirubinemia, Abnormal serum bile acid co... ORPHA:79303
Combined Immunodeficiency Due To Crac Channel Dysfunction
Chronic otitis media, Thrombocytopenia, Splenomegaly, Pneumonia, Hemolytic anemia ORPHA:169090
3-Hydroxy-3-Methylglutaric Aciduria
Prolonged prothrombin time, Anemia, Hyperuricemia, Acute pancreatitis, Leukocytosis, Cardiac arre... ORPHA:20
Congenital Disorder Of Glycosylation, Type It
Prolonged prothrombin time, Recurrent otitis media, Tachycardia, Elevated circulating creatine ki... OMIM:614921
Cholestasis, Progressive Familial Intrahepatic, 5
Prolonged prothrombin time, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration,... OMIM:617049
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinemia, ... OMIM:251100
Liver Failure, Infantile, Transient
Prolonged prothrombin time, Decreased circulating IgG level, Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Anemia, Pancreatitis, Thrombocytopenia, Conjunctivitis, Abnormality ... ORPHA:36426
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased circulating IgG level, I... ORPHA:2298
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Pulmonary arterial hypertension, Portal hypertension, Thrombocytopen... ORPHA:974
Pseudohypoparathyroidism Type 1A
Calcinosis, Hypocalcemic seizures, Prolonged QT interval, Hypocalcemia, Hypertension, Abnormal pl... ORPHA:79443
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hyperbilirubinemia, Portal hypertension, Thrombocytopenia, Splenomegaly, Elevated circulating alp... OMIM:251880
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Bradycardia, Hyperhomocystinemia, Megaloblastic anemia, Cardiac arrest, H... OMIM:277400
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemic rickets, Anemia, Elevated circulating creatine kinase concentration, Thrombocyto... OMIM:619743
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hyperhomocystinemia, Stomatitis, Megaloblastic anemia, Elevated circulati... ORPHA:79282
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Kikuchi-Fujimoto Disease
Myocarditis, Anemia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Malar ... ORPHA:50918
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hypokalemia, Elevated circulating C-reactive p... OMIM:619573
Smith-Kingsmore Syndrome
Decreased circulating IgA level, Thrombocytopenia OMIM:616638
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Ecchymosis, Osteoarthritis, Bruising susceptibility, Abnormal heart valv... ORPHA:287
Noonan Syndrome 9
Prolonged prothrombin time, Pulmonic stenosis OMIM:616559
Exercise-Induced Malignant Hyperthermia
Hyperkalemia, Abnormal bleeding, Prolonged QT interval, Hypocalcemia, Sinus tachycardia, Abnormal... ORPHA:466650
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy... ORPHA:261250
Acute Liver Failure
Prolonged prothrombin time, Gastrointestinal hemorrhage, Abnormal bleedi