Gene: Tbc1d22a MGI:1289265

Log in to follow

Gene Summary

Name:
TBC1 domain family, member 22a
Synonyms:
D15Ertd781e

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased mean platelet volume Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 2.66×10-06
increased circulating amylase level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 5.33×10-12
decreased circulating fructosamine level Tbc1d22atm1b(KOMP)Wtsi HOM   Early adult 2.16×10-06
increased circulating alanine transaminase level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 9.95×10-34
increased circulating free fatty acids level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 1.54×10-06
increased red blood cell distribution width Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 7.08×10-06
thrombocytopenia Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 1.94×10-05
decreased circulating triglyceride level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 8.32×10-05
increased circulating aspartate transaminase level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 3.05×10-19
increased circulating creatinine level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 4.88×10-05
increased circulating alkaline phosphatase level Tbc1d22atm1b(KOMP)Wtsi HOM Early adult 0.00

Download data as:  TSV  XLS

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
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Blood vessel 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)
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 100% (2 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)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe 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 100% (2 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue 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)
Testis N/A heterozygote 50% (1 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)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
peripheral nervous system 0.34% (2 of 584)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Lateral Orientation

14 Images

X-ray

XRay Images Forepaw

14 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Skull Lateral Orientation

14 Images

Eye Morphology

Images Slit Lamp

1 Images

Legacy Phenotype Associated Images

View all 70 images

Human diseases caused by Tbc1d22a 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 Tbc1d22a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Increased circulating ferritin concentration, Chronic hemolytic anemia, Reticulocytosis, Abnormal... ORPHA:766
Iron-Refractory Iron Deficiency Anemia
Elevated hepcidin level, Anisocytosis, Hypochromic microcytic anemia, Poikilocytosis OMIM:206200
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Sitosterolemia 1
Impaired platelet aggregation, Hypercholesterolemia, Episodic hemolytic anemia, Chronic hemolytic... OMIM:210250
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Increased circulating ferritin concentration, Hypochromia, Conjugated hyperbilirubinemia, Erythro... OMIM:616860
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Sebastian syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:605249
Malaria
Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Hemophagocytic Lymphohistiocytosis, Familial, 4
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... OMIM:603552
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Increased circulating ferritin concentration, Hemophagocytosis, Thrombocytopenia, Hypertriglyceri... OMIM:613101
Dyserythropoiesis, Congenital, With Ultrastructurally Normal Erythroblast Heterochromatin
Oval macrocytosis, Anisocytosis, Poikilocytosis, Anemia of inadequate production OMIM:603529
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:155100
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Spleno... OMIM:224120
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Anisocytosis, Splenomegaly, Anemia, Anemia of inadequate ... OMIM:615631
Sickle Cell Anemia
Iron deficiency anemia, Hypochromic anemia, Thrombocytosis, Hemolytic anemia, Chronic hemolytic a... ORPHA:232
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Anisocytosis, Acute myeloi... ORPHA:86841
Congenital Dyserythropoietic Anemia Type Iii
Increased total iron binding capacity, Hyperbilirubinemia, Abnormal erythrocyte morphology, Aniso... ORPHA:98870
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Anisocytosis, Splenomegaly, Un... OMIM:300908
Myh9-Related Disease
Congenital thrombocytopenia, Giant platelets, Increased mean platelet volume, Neutrophil inclusio... ORPHA:182050
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Anemia, Elevated alpha-fetoprotein, Neutropenia OMIM:617243
Bernard-Soulier Syndrome
Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant platelets OMIM:231200
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating creatinine... OMIM:612926
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Neutropenia, Abnormal platelet granules ORPHA:238459
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia, Decreased serum creatinine ORPHA:54057
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Azotemia, Familial
Azotemia OMIM:109160
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hypertriglyceridemia, Granulocytopenia, Anemia, Hepatosplenomegaly OMIM:608898
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:235400
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Decreased serum iron, Anisocytosis, Anemia, Decreased mean corpuscular volume, Po... OMIM:616959
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Stomatocytosis, Reticulocy... ORPHA:3203
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Neutropenia, Thrombocytopenia,... OMIM:169400
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Tubulointerstitial Nephritis With Uveitis
Elevated circulating creatinine concentration, Non-caseating epithelioid cell granulomatosis OMIM:607665
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Anemia, Splenomegaly, Leukemia OMIM:133180
Immunodeficiency 69
Increased circulating ferritin concentration, Thrombocytosis, Leukocytosis, Pancytopenia, Anemia,... OMIM:618963
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Pancytopenia, Thrombocytopenia, Reduced natural kil... OMIM:616050
Drug-Induced Lupus Erythematosus
Increased blood urea nitrogen, Thrombocytopenia, Elevated circulating C-reactive protein concentr... ORPHA:231111
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Stomatocytosis, Splenomegaly OMIM:153670
Relapsing Fever
Increased total bilirubin, Leukocytosis, Elevated circulating creatinine concentration, Thrombocy... ORPHA:91547
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Reticulocytosis, Elevated circu... OMIM:274150
Stormorken Syndrome
Thrombocytopenia, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Howell-Jo... OMIM:185070
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Increased circulating free fatty acid level, Elevated circulating ... ORPHA:26793
Lymphoproliferative Syndrome 1
Increased circulating ferritin concentration, Autoimmune thrombocytopenia, Autoimmune hemolytic a... OMIM:613011
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Decreased circulating renin level, Hyponatremia, Decreased serum creatinine OMIM:300539
Transaldolase Deficiency
Thrombocytopenia, Abnormal circulating glutamine concentration, Anemia, Hepatosplenomegaly, Incre... ORPHA:101028
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Mandibuloacral Dysplasia
Hypercholesterolemia, Hypertriglyceridemia, Increased circulating free fatty acid level ORPHA:2457
Lecithin:Cholesterol Acyltransferase Deficiency
Hypertriglyceridemia, Normochromic anemia, Hemolytic anemia, Decreased HDL cholesterol concentration OMIM:245900
Leishmaniasis
Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, An... ORPHA:507
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia OMIM:616176
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Thrombocytopenia, Hyperammonemia, Neutropenia, Anemia ORPHA:289916
Omenn Syndrome
Severe B lymphocytopenia, Hypoproteinemia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocy... OMIM:603554
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration OMIM:242530
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Anemia, Leukopenia, Hyperammonemia, Macrocytic anemia ORPHA:27
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Refractory Anemia With Excess Blasts
Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of inadequate production, Abnormal... ORPHA:86839
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Beta-Thalassemia
Abnormality of iron homeostasis, Microcytic anemia, Thrombocytopenia, Anemia, Splenomegaly, Abnor... ORPHA:848
Trichohepatoenteric Syndrome 1
Thrombocytosis, Abnormality of iron homeostasis, Hypermethioninemia, Increased mean platelet volu... OMIM:222470
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia, Impaired ADP-induced platele... OMIM:173590
Lathosterolosis
Hyperbilirubinemia, Increased mean platelet volume, Schistocytosis, Anisopoikilocytosis, Acanthoc... OMIM:607330
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:267700
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Anemia, Splenomegaly, Hyperammonemia ORPHA:79312
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Interstitial Nephritis, Karyomegalic
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:614817
Idiopathic Non-Lupus Full-House Nephropathy
Elevated circulating creatinine concentration ORPHA:567544
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Abnormality of iron homeostasis, Decreased mean corpuscular hemogl... ORPHA:231226
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Lysosomal Acid Lipase Deficiency
Hypercholesterolemia, Bone-marrow foam cells, Vacuolated lymphocytes, Steatorrhea, Thrombocytopen... OMIM:278000
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Splenomegaly ORPHA:721
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration OMIM:616733
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Increased circulating ferritin concentration, Hemophagocytosis, Pancytopenia, Hypertriglyceridemi... OMIM:618398
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Hyperuricemia, Thrombocytopenia, Anemia, Leukopenia, Hypomagnesemia OMIM:613845
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypoalbuminemia, Anemia OMIM:608104
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Syndromic Diarrhea
Thrombocytosis, Abnormality of iron homeostasis, Lymphopenia, Increased mean platelet volume, Hyp... ORPHA:84064
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Leukocytosis, Increased hemoglobin, Thrombocytopenia, Incre... OMIM:263300
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Homocystinuria, Hyperhomocystinemia OMIM:614857
Orotic Aciduria
Hypochromia, Folate-unresponsive megaloblastic anemia, Anisocytosis, Pyrimidine-responsive megalo... OMIM:258900
Coach Syndrome 2
Elevated circulating creatinine concentration OMIM:619111
Methylmalonic Aciduria, Cblb Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251110
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperglycinemia, Thrombocytopenia, Methylmalonic acidemia, Leukopenia, Hyperammonemia OMIM:251000
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Congenital thrombocytopenia, Anemia, Leukocytosis OMIM:618886
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Congenital Erythropoietic Porphyria
Hemolytic anemia, Increased erythrocyte protoporphyrin concentration, Reticulocytosis, Reduced ha... ORPHA:79277
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Decreased platelet glycoprotei... ORPHA:274
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hemopha... OMIM:603553
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased plasma carnitine, Thrombocytopenia, Elevated creatine kinase after exercise, Elevated c... ORPHA:99901
Methylmalonic Aciduria, Cbla Type
Hyperglycinemia, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmalonic acidemia, Anemia, Hyp... OMIM:251100
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Megaloblastic anemia, Cystathioninuria, Neutropenia, Pancytopenia, Thrombocytopenia, Methylmaloni... OMIM:277380
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Elevated red cell adenosine deaminase level, Hemolytic anemia, Stomatocytosis, Hyperuricemia, Ani... OMIM:102730
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
C3 Glomerulopathy
Elevated circulating creatinine concentration ORPHA:329918
Congenital Enterovirus Infection
Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Hypoalbuminemia, Leu... ORPHA:292
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Hereditary Arterial And Articular Multiple Calcification Syndrome
Decreased serum creatinine ORPHA:289601
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Dengue Fever
Thrombocytopenia, Hypoproteinemia, Leukopenia ORPHA:99828
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Chronic hemolytic anemia, Elliptocytosis, Reticulocytosis, Anisocytosis, Decreased mean corpuscul... OMIM:618278
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:79126
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Elevated circulating creatine kinase concentration, Thrombocytopenia, Normochromic anemia OMIM:618775
Familial Hemophagocytic Lymphohistiocytosis
Increased circulating ferritin concentration, Hemophagocytosis, Neutropenia, Thrombocytopenia, Hy... ORPHA:540
Propionic Acidemia
Hyperglycinemia, Neutropenia, Hyperglycinuria, Pancytopenia, Thrombocytopenia, Anemia, Hyperammon... OMIM:606054
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creatinine... ORPHA:90038
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Elevated circulating creatinine concentration OMIM:614376
Sengers Syndrome
Thrombocytopenia OMIM:212350
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Thrombocytopenia, Hyponatremia, Leukocytosis ORPHA:83601
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Elevated circulating creatinine concentration, Hyperuricemia ORPHA:79233
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Osteopetrosis, Autosomal Recessive 5
Hypocalcemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Pancytopenia, Thrombocytopenia, A... OMIM:259720
Cog4-Cdg
Thrombocytopenia, Hypercholesterolemia, Hepatosplenomegaly ORPHA:263501
Isovaleric Acidemia
Hyperglycinuria, Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Splenomegaly OMIM:615085
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Neutropenia, Macrothrombocytopenia, Thrombocytopenia, Decreased platelet glycoprot... OMIM:603585
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Elevated circulating creatinine concentration, Increased circulating metamyelocyte ... ORPHA:36234
+173470 integrin, beta-3
Impaired platelet aggregation, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thro... OMIM:173470
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Pancytopenia OMIM:613839
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Aminoaciduria, Thiamine-responsive megaloblastic anemia OMIM:249270
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated circulating creatinine concentration OMIM:613095
Griscelli Syndrome
Abnormality of neutrophils, Abnormal circulating lipid concentration, Thrombocytopenia, Leukopeni... ORPHA:381
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Splenomegaly OMIM:617591
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Poikilocytosis, Anemia of inadequate production OMIM:300367
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Elevated circulating creatinine concentration, Hyperuricemia, Anemia OMIM:174000
Dopamine Beta-Hydroxylase Deficiency
Elevated circulating creatinine concentration, Increased blood urea nitrogen, Anemia ORPHA:230
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Babesiosis
Thrombocytopenia, Hemolytic anemia, Leukopenia, Splenomegaly ORPHA:108
Aicardi-Goutieres Syndrome 4
Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:610333
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Nephronophthisis 2
Elevated circulating creatinine concentration, Hyperkalemia OMIM:602088
Mevalonic Aciduria
Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, El... OMIM:610377
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Hyperbilirubinemia, Thrombocytopenia, Hypoalbuminemia, Splenomegaly OMIM:251880
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia, Anemia, Splenomegaly ORPHA:29073
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Thrombocytopenia OMIM:254900
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Folate Malabsorption, Hereditary
Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia, Leukopenia OMIM:229050
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Avian Influenza
Lymphopenia, Thrombocytopenia, Hypoalbuminemia, Leukopenia, Elevated circulating C-reactive prote... ORPHA:454836
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Splenomegaly OMIM:231000
Amed Syndrome, Digenic
Thrombocytopenia, Acute myeloid leukemia, Anemia, Leukopenia OMIM:619151
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Pancytopenia OMIM:613987
Primary Myelofibrosis
Thrombocytosis, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemi... ORPHA:824
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Splenomegaly OMIM:230900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating creatinine concentration, Normochromic anemia, Normocytic anemia ORPHA:247691
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Neutropenia, Anemia ORPHA:47
Congenital Disorder Of Glycosylation, Type Iil
Elevated circulating creatine kinase concentration, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:614576
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Congenital Disorder Of Glycosylation, Type Iit
Iron deficiency anemia, Hypotriglyceridemia, Decreased serum creatinine, Decreased HDL cholestero... OMIM:618885
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Tangier Disease
Hypocholesterolemia, Thrombocytopenia, Hypertriglyceridemia, Anemia, Hepatosplenomegaly ORPHA:31150
Apolipoprotein C-Ii Deficiency
Hypercholesterolemia, Increased circulating chylomicron concentration, Hypertriglyceridemia, Decr... OMIM:207750
Osteopetrosis, Autosomal Recessive 1
Hypocalcemia, Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly OMIM:259700
Cryoglobulinemia, Familial Mixed
Elevated circulating creatinine concentration OMIM:123550
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia ORPHA:88
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hypercholesterolemia, Hyperglutaminemia, Argininuri... ORPHA:470
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Splenomegaly OMIM:615846
Systemic Lupus Erythematosus
Thrombocytopenia, Hemolytic anemia, Leukopenia OMIM:152700
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Snakebite Envenomation
Thrombocytopenia, Hyponatremia ORPHA:449285
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Refractory anemia OMIM:231095
Lysinuric Protein Intolerance
Increased circulating ferritin concentration, Hemophagocytosis, Intraalveolar phospholipid accumu... OMIM:222700
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Shwachman-Diamond Syndrome
Hypoamylasemia, Chronic neutropenia, Neutropenia, Steatorrhea, Impaired neutrophil chemotaxis, Pa... ORPHA:811
Congenital Rubella Syndrome
Thrombocytopenia, Anemia, Splenomegaly ORPHA:290
Aapoaiv Amyloidosis
Elevated circulating creatinine concentration, Hyperlipidemia ORPHA:439232
Igg4-Related Retroperitoneal Fibrosis
Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat... ORPHA:49041
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia OMIM:617443
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hemophagocytosis, Hypoproteinemia, Increased propor... ORPHA:167
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Megaloblastic anemia, Cystathioninuria, Neutropenia, Thrombocytopenia, Hypomethioninemia, Methylm... OMIM:277400
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:259710
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Impaired colla... OMIM:139090
Neonatal Lupus Erythematosus
Hemolytic anemia, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Anemia, Splenomegaly ORPHA:398124
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:319218
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomegaly OMIM:150550
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Thrombocytopenia, Splenomegaly, Hypoalbuminemia, Leukopenia, Anemia OMIM:617303
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Hemorrhagic Fever-Renal Syndrome
Thrombocytopenia, Hypoproteinemia, Leukocytosis ORPHA:340
Necrotizing Enterocolitis
Thrombocytopenia, Hyponatremia, Neutropenia, Leukocytosis ORPHA:391673
Congenital Disorder Of Glycosylation, Type Iig
Thrombocytopenia, Anemia OMIM:611209
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopen... ORPHA:98850
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Aminoaciduria, Neutropenia OMIM:614520
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Thrombocytopenia, Ane... OMIM:304790
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Quebec Platelet Disorder
Impaired epinephrine-induced platelet aggregation, Thrombocytopenia OMIM:601709
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Abnormal neutrophil count, Splenomegaly, Myeloproliferative disor... ORPHA:3226
Mirage Syndrome
Lymphopenia, Hyponatremia, Thrombocytopenia, Anemia, Leukopenia, Hypoplastic spleen, Hyperkalemia OMIM:617053
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Gamma-Heavy Chain Disease
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology, Thrombo... ORPHA:100026
Neuroleptic Malignant Syndrome
Hypocalcemia, Thrombocytosis, Leukocytosis, Hypernatremia, Hyponatremia, Elevated circulating cre... ORPHA:94093
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Elevated circulating creatine kinase concentration, Thrombocytopenia, Leukopenia OMIM:301056
Osteopetrosis With Renal Tubular Acidosis
Thrombocytopenia, Anemia, Splenomegaly ORPHA:2785
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Tularemia
Thrombocytopenia, Anemia, Leukocytosis ORPHA:3392
Epilepsy, Hearing Loss, And Mental Retardation Syndrome
Thrombocytopenia OMIM:616577
Castleman Disease
Thrombocytopenia, Decreased mean corpuscular volume, Elevated circulating C-reactive protein conc... ORPHA:160
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Sepsis In Premature Infants
Leukocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive protein concentratio... ORPHA:90051
Fetal Gaucher Disease
Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Elevated circulating creatinine concentration, Increased blood urea nitrogen OMIM:223900
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Lymphopenia, Neutropenia, Hypoplasia of the thymus, Thrombocyt... OMIM:612541
Letterer-Siwe Disease
Thrombocytopenia, Hepatosplenomegaly, Neutropenia, Anemia OMIM:246400
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Neutropenia, Steatorrhea, Pancytopenia, Thrombocytopenia, Acute myel... OMIM:260400
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Marburg Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99826
Lig4 Syndrome
Thrombocytopenia, Pancytopenia OMIM:606593
Bleeding Disorder, Platelet-Type, 17
Thrombocytopenia, Abnormal thrombocyte morphology, Absence of alpha granules OMIM:187900
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Transaldolase Deficiency
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:606003
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Schimke Immunoosseous Dysplasia
Lymphopenia, Neutropenia, Thrombocytopenia, Abnormal T cell morphology, Anemia OMIM:242900
Wolfram Syndrome 1
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia OMIM:222300
Juvenile Nephropathic Cystinosis
Hypophosphatemia, Hypocalcemia, Hypouricemia, Elevated circulating creatinine concentration, Hypo... ORPHA:411634
Chediak-Higashi Syndrome
Hemophagocytosis, Abnormal dense granules, Impaired neutrophil bactericidal activity, Neutropenia... OMIM:214500
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613989
Gaucher Disease, Type I
Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Anemia OMIM:230800
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Congenital thrombocytopenia, Aplastic anemia, Amegakaryocytic thrombocytopenia OMIM:605432
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Anemia, Leukopenia ORPHA:520
Primary Hyperoxaluria Type 1
Abnormality of circulating enzyme level, Calcinosis, Hyperoxaluria, Anemia ORPHA:93598
Felty Syndrome
Abnormal lymphocyte morphology, Neutropenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:47612
Crimean-Congo Hemorrhagic Fever
Thrombocytopenia, Leukopenia ORPHA:99827
Niemann-Pick Disease Type B
Autoimmune thrombocytopenia, Acute promyelocytic leukemia, Abnormal circulating lipid concentrati... ORPHA:77293
Wilson Disease
Thrombocytopenia, Anemia, Splenomegaly ORPHA:905
Shigellosis
Microangiopathic hemolytic anemia, Splenic abscess, Leukocytosis, Hyponatremia, Abnormal blood io... ORPHA:810
Insulin-Resistance Syndrome Type B
Hypotriglyceridemia, Abnormal circulating lipid concentration, Thrombocytopenia, Abnormal circula... ORPHA:2298
Prolidase Deficiency
Thrombocytopenia, Anemia, Splenomegaly OMIM:170100
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Hypomethioninemia, Methylmalonic acidemia, E... ORPHA:79282
Immunodeficiency, Common Variable, 8, With Autoimmunity
Decreased proportion of class-switched memory B cells, Autoimmune thrombocytopenia, Autoimmune he... OMIM:614700
Hermansky-Pudlak Syndrome 2
Impaired ADP-induced platelet aggregation, Neutropenia, Thrombocytopenia, Reduced natural killer ... OMIM:608233
Boutonneuse Fever
Thrombocytopenia, Leukopenia ORPHA:83313
Shwachman-Diamond Syndrome 2
Thrombocytopenia, Neutropenia, Steatorrhea, Normocytic anemia OMIM:617941
Hepatocellular Carcinoma
Thrombocytosis, Polycythemia, Hyperbilirubinemia, Hyponatremia, Thrombocytopenia, Hypokalemia, Hy... ORPHA:88673
Cardiogenic Shock
Elevated circulating creatinine concentration ORPHA:97292
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Hermansky-Pudlak Syndrome 5
Thrombocytopenia OMIM:614074
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Splenomegaly ORPHA:169090
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Thrombocytopenia, High nonceruloplasmin-bound serum copper ORPHA:457351
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Thrombocytopenia, Hypoalbuminemia, Anemia, Leukopenia, Hepatosplenomegaly ORPHA:505248
Autosomal Dominant Polycystic Kidney Disease
Elevated circulating creatinine concentration ORPHA:730
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia ORPHA:2686
Oligomeganephronia
Elevated circulating creatinine concentration ORPHA:2260
Fanconi Anemia, Complementation Group E
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:600901
Pseudo-Torch Syndrome 1
Thrombocytopenia, Splenomegaly OMIM:251290
Gaucher Disease Type 1
Pancytopenia, Thrombocytopenia, Splenomegaly, Anemia, Hypersplenism, Leukopenia ORPHA:77259
Fanconi Anemia, Complementation Group A
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukopenia ORPHA:508542
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Neutropenia, Splenomegaly OMIM:308230
Tick-Borne Encephalitis
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Leukopenia, Leukocytosis ORPHA:297
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Lassa Fever
Thrombocytopenia, Leukopenia ORPHA:99824
Blackfan-Diamond Anemia
Elevated red cell adenosine deaminase level, Erythroid hypoplasia, Pure red cell aplasia, Thrombo... ORPHA:124
Igg4-Related Kidney Disease
Elevated circulating creatinine concentration, Eosinophilia, Elevated circulating C-reactive prot... ORPHA:449395
Caroli Syndrome
Leukocytosis, Hyperbilirubinemia, Conjugated hyperbilirubinemia, Thrombocytopenia, Hypersplenism,... ORPHA:480520
Pearson Syndrome
Hypophosphatemia, Hypocalcemia, Reticulocytosis, Neutropenia, Steatorrhea, Pancytopenia, Thromboc... ORPHA:699
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Lymphopenia, Aplastic anemia, Anemia OMIM:127550
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:3322
Good Syndrome
Thrombocytopenia, Abnormal leukocyte morphology, Anemia ORPHA:169105
Immunodeficiency 59 And Hypoglycemia
Thrombocytopenia, Hypochromic anemia, Granulocytopenia, Leukocytosis OMIM:233600
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Hepatosplenomegaly, Splenomegaly OMIM:225750
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Pediatric-Onset Graves Disease
Thrombocytopenia, Neutropenia in presence of anti-neutropil antibodies, Splenomegaly ORPHA:525731
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating creatinine concentration, Reduced hematocrit, Aminoaciduria, Normocytic anem... ORPHA:91500
Fanconi Anemia, Complementation Group C
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227645
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Thrombocytopenia, Aplastic anemia, Leukopenia OMIM:613990
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Thrombocytopenia, Elevated circulating creatine kinase concentration, Hyperkalemia,... ORPHA:466650
Gaucher Disease, Perinatal Lethal
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly OMIM:608013
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Increased mean corpuscular volume ORPHA:261250
Renal Cysts And Diabetes Syndrome
Elevated circulating creatinine concentration, Hyperuricemia OMIM:137920
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Pauci-Immune Glomerulonephritis
Elevated circulating creatinine concentration ORPHA:93126
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia ORPHA:464343
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Splenomegaly, Elevated circulating C-reactive prote... ORPHA:50918
Hellp Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hemolytic anemia, Decreased mean corpuscular... ORPHA:244242
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Lathosterolosis
Anisopoikilocytosis, Thrombocytopenia, Abnormal platelet morphology ORPHA:46059
Kaposiform Lymphangiomatosis
Abnormal spleen morphology, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly ORPHA:464329
Structural Heart Defects And Renal Anomalies Syndrome
Elevated circulating creatinine concentration OMIM:617478
Fanconi Anemia, Complementation Group B
Thrombocytopenia, Aplastic anemia OMIM:300514
Fanconi Anemia, Complementation Group F
Thrombocytopenia, Anemia, Leukopenia OMIM:603467
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Proteasome-Associated Autoinflammatory Syndrome 1
Microcytic anemia, Thrombocytopenia, Hypertriglyceridemia, Splenomegaly, Elevated circulating C-r... OMIM:256040
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Gaucher Disease
Pancytopenia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia, Sp... ORPHA:355
Wiskott-Aldrich Syndrome
Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lymphopenia, Neutropenia, Hypoplasia of th... ORPHA:906
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Brucellosis
Thrombocytosis, Leukocytosis, Thrombocytopenia, Splenomegaly, Elevated circulating C-reactive pro... ORPHA:1304
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Infection-Related Hemolytic Uremic Syndrome
Hypocalcemia, Hemolytic anemia, Leukocytosis, Hyponatremia, Thrombocytopenia, Hyperkalemia ORPHA:544482
Fanconi Anemia, Complementation Group D2
Neutropenia, Reticulocytopenia, Pancytopenia, Thrombocytopenia, Anemia, Leukemia OMIM:227646
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Kasabach-Merritt Syndrome
Microangiopathic hemolytic anemia, Reticulocytosis, Neutropenia, Thrombocytopenia, Anemia, Leukop... ORPHA:2330
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Nijmegen Breakage Syndrome
Thrombocytopenia, T lymphocytopenia, B lymphocytopenia, Autoimmune hemolytic anemia OMIM:251260
Ivic Syndrome
Thrombocytopenia, Leukocytosis OMIM:147750
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Hypoammonemia, Hypercholesterolemia, Hyponatremia, Aminoaciduria, Hyperaldoster... ORPHA:534
Gaucher Disease Type 3
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly ORPHA:77261
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase level, Thrombocytosis, Congenital hypoplastic anemia, Neutr... OMIM:105650
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619005
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neutropenia in presence of... ORPHA:391487
Dubowitz Syndrome
Thrombocytopenia, Acute lymphoblastic leukemia, Anemia, Abnormality of neutrophils ORPHA:235
Porphyria, Congenital Erythropoietic
Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:263700
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Thrombocytopenia, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:274000
Q Fever
Thrombocytopenia, Hepatosplenomegaly, Anemia, Splenomegaly ORPHA:781
Stevens-Johnson Syndrome
Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:36426
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Thrombocytopenia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum ... ORPHA:731
Toxic Epidermal Necrolysis
Thrombocytopenia, Neutropenia, Anemia ORPHA:537
Leptospirosis
Thrombocytopenia, Hyperproteinemia ORPHA:509
Nijmegen Breakage Syndrome
Thrombocytopenia, Hemolytic anemia, Acute leukemia, Autoimmune hemolytic anemia ORPHA:647
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Acute Liver Failure
Thrombocytopenia, Hyperammonemia ORPHA:90062
Dyskeratosis Congenita
Thrombocytopenia, Abnormality of neutrophils, Anemia, Splenomegaly ORPHA:1775
Deeah Syndrome
Thrombocytopenia, Decreased hemoglobin concentration OMIM:619004
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
22Q11.2 Deletion Syndrome
Hypocalcemia, Thrombocytopenia, Hypoplasia of the thymus, Splenomegaly, Abnormal thrombocyte morp... ORPHA:567
Dyskeratosis Congenita, X-Linked
Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Anemia, Leukopenia OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Thrombocytopenia, Anemia, Splenomegaly, Abnormality of the spleen, Hepatosplenomegaly ORPHA:2072
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Primary Sjögren Syndrome
Decreased proportion of CD4-positive helper T cells, Lymphopenia, Normocytic anemia, Thrombocytop... ORPHA:289390
Fanconi Anemia
Thrombocytopenia, Anemia, Pyridoxine-responsive sideroblastic anemia, Leukopenia ORPHA:84
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Sarcoidosis
Hemolytic anemia, Increased T cell count, Thrombocytopenia, Hypercalcemia, Anemia, Leukopenia, Eo... ORPHA:797
Roberts Syndrome
Thrombocytopenia ORPHA:3103
Osteogenesis Imperfecta
Thrombocytopenia ORPHA:666
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Hepatosplenomegaly, Neonatal alloimmune thrombocytopenia ORPHA:51
Noonan Syndrome 1