Gene Summary

Name:
complement component factor i
Synonyms:
N/A

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
thrombocytopenia Cfitm1b(EUCOMM)Hmgu HOM Early adult 4.60×10-06
increased circulating alanine transaminase level Cfitm1b(EUCOMM)Hmgu HOM   Early adult 2.36×10-05
decreased locomotor activity Cfitm1b(EUCOMM)Hmgu HOM Early adult 3.47×10-08

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

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 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
oral cavity 0.0%
skin 0.0%
tail 0.0%
tail somite group 0.0%

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

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

Embryo LacZ

LacZ images wholemount

8 Images

Adult LacZ

LacZ Images Wholemount

2 Images

Auditory Brain Stem Response

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

4 Images

Human diseases caused by Cfi mutations

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

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

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic syndrome... OMIM:618594
Nephrotic Syndrome, Type 4
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Diffuse mesangial sclero... OMIM:256370
Nephrotic Syndrome, Type 12
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616892
Nephrotic Syndrome, Type 3
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:610725
Coenzyme Q10 Deficiency, Primary, 6
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:614650
Nephrotic Syndrome, Type 24
Focal segmental glomerulosclerosis, Renal cortical hyperechogenicity, Steroid-resistant nephrotic... OMIM:619263
Mesangial sclerosis, diffuse renal, with ocular abnormalities
Nephrotic syndrome, Diffuse mesangial sclerosis, Renal insufficiency OMIM:249660
Nephrotic Syndrome, Type 8
Chronic kidney disease, Hypoalbuminemia, Thin glomerular basement membrane, Stage 5 chronic kidne... OMIM:615244
Nephrotic Syndrome, Type 23
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Steroid-resistant nephroti... OMIM:619201
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Nephrotic Syndrome, Type 11
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, IgA depos... OMIM:616730
Genetic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Chronic kidney disease, Hy... ORPHA:656
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Steroid-resistant nephrotic s... OMIM:616893
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Congenital nephrotic syndrome, Renal insufficiency, Hyperlipidemia, Proteinuria,... OMIM:256300
C3 Glomerulopathy 3
Thickening of glomerular capillary wall, Stage 5 chronic kidney disease, Renal insufficiency, Mes... OMIM:614809
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney disease, Steroid-r... OMIM:620049
Idiopathic Steroid-Resistant Nephrotic Syndrome
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Acute kidney injury, Hypoa... ORPHA:567548
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Nephrotic Syndrome, Type 9
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:615573
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Lipoprotein Glomerulopathy
Proteinuria, Glomerulopathy, Renal insufficiency, Mesangial hypercellularity OMIM:611771
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Proteinuria, Steroid-resistant nephrotic syndrome, Stage 3 ch... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Steroid-resistan... OMIM:301028
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:616032
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Focal Segmental Glomerulosclerosis 6
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria,... OMIM:614131
Spastic Paraplegia, Sensorineural Deafness, Impaired Intellectual Development, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Focal Segmental Glomerulosclerosis 7
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... OMIM:616002
Reni Syndrome
Focal segmental glomerulosclerosis, Hypoalbuminemia, Steroid-resistant nephrotic syndrome, Stage ... OMIM:617575
Nephrotic Syndrome, Type 2
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hyperlipidem... OMIM:600995
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Galloway-Mowat Syndrome 10
Proteinuria, Stage 5 chronic kidney disease, Podocyte foot process effacement, Diffuse mesangial ... OMIM:619609
Galloway-Mowat Syndrome 7
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, IgA deposition in the glom... OMIM:618348
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hypoalbuminemia, Stage 5 c... OMIM:614196
Nephrotic Syndrome, Type 17
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:618176
Malaria
Gait imbalance, Hyperbilirubinemia, Anemia, Thrombocytopenia, Elevated circulating C-reactive pro... ORPHA:673
Galloway-Mowat Syndrome 4
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Congenital nephrotic syndrome... OMIM:617730
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Nephrotic Syndrome, Type 22
Thickened glomerular basement membrane, Stage 5 chronic kidney disease, Podocyte foot process eff... OMIM:619155
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Microscopic hema... OMIM:613237
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Congenital Membranous Nephropathy Due To Fetomaternal Anti-Neutral Endopeptidase Alloimmunization
Nephrotic syndrome, Renal insufficiency, Glomerulonephritis, Glomerular deposits ORPHA:69063
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Proteinuria, Hematuria, Renal insufficiency OMIM:607832
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Chronic kidney disease, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria,... OMIM:310468
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Nephrotic Syndrome, Type 15
Hypoalbuminemia, Minimal change glomerulonephritis, Steroid-resistant nephrotic syndrome, Stage 5... OMIM:617609
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Dysmetria, Neutropenia, Ataxia, ... OMIM:159550
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Oculorenocerebellar Syndrome
Nephropathy, Glomerular sclerosis OMIM:257970
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia OMIM:616176
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Galloway-Mowat Syndrome 9
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Diffuse mesangial sclerosis OMIM:619603
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Glom... ORPHA:84090
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Focal segmental glomerulosclerosis, Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Glycos... OMIM:308990
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Mesangial hypercellularity OMIM:620425
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Neutropenia, Ataxia, Thrombocytopenia, Athetosis OMIM:229050
Nephronophthisis 13
Renal hypoplasia, Nephronophthisis, Stage 5 chronic kidney disease, Glomerular subepithelial immu... OMIM:614377
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis, Glomer... OMIM:617729
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... OMIM:194080
Immunodeficiency, Common Variable, 6
Decreased specific pneumococcal antibody level, Mesangial Immune complex deposition, Chronic decr... OMIM:613496
Gray Platelet Syndrome
Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Hyperammonemia, Macrocytic anemia, Lethargy, Thrombocytopenia, Ataxia, Anemia, Choreo... ORPHA:27
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Galloway-Mowat Syndrome 8
Focal segmental glomerulosclerosis, Hypoalbuminemia, Stage 5 chronic kidney disease, Hematuria, P... OMIM:618349
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hyperammonemia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:289916
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Aicardi-Goutieres Syndrome 6
Loss of ambulation, Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Galloway-Mowat Syndrome 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Renal insufficiency, Proteinuria, Diffuse me... OMIM:251300
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Splenomegaly, Lethargy, Neutropenia, Thrombocytopenia, Anemia, Choreoathetosis ORPHA:79312
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Increased circulating IgE level, Decreased circulating IgA level, Decreased circulating IgG2 leve... OMIM:102700
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Impaired renal uric acid clearance, Renal hypoplasia, Tubular basement membrane disintegration, E... OMIM:174000
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Elevated circulating cre... OMIM:617056
Thyrocerebroretinal Syndrome
Thrombocytopenia, Ataxia OMIM:274240
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Macrothrombocytopenia, Giant platelets, Thrombo... OMIM:231200
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Increased circulating ferritin concentration,... OMIM:616050
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Isovaleric Acidemia
Lethargy, Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Reticulocytosis, Reduced haptoglobi... OMIM:210250
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal... OMIM:308240
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Frasier Syndrome
Focal segmental glomerulosclerosis, Proteinuria, Nephrotic syndrome, Stage 5 chronic kidney disease OMIM:136680
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia, Ataxia OMIM:231000
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased circulating ferritin concentration, Increase... OMIM:267700
Pierson Syndrome
Hyperechogenic kidneys, Stage 5 chronic kidney disease, Proteinuria, Diffuse mesangial sclerosis,... OMIM:609049
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impa... OMIM:617443
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Megaloblastic anemia, Thrombocytopenia ORPHA:49827
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia, Macrothrombocytopenia OMIM:603585
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Megaloblastic anemia, Thrombocytopenia OMIM:598500
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Thromboc... ORPHA:507
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:2123
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Holocarboxylase Synthetase Deficiency
Lethargy, Hyperammonemia, Thrombocytopenia, Ataxia ORPHA:79242
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Anemia, Abnormality of ir... ORPHA:848
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Hypomethioninemia, Lethargy, Hyperhomocyst... OMIM:614857
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Methylmalonic Aciduria, Cblb Type
Elevated circulating propionylcarnitine concentration, Pancytopenia, Hyperglycinemia, Elevated ci... OMIM:251110
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Abnormal circula... ORPHA:86839
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitrogen, Thromb... ORPHA:231111
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:613839
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia, Increased circulating ferritin concentration ORPHA:210136
Dengue Fever
Lethargy, Hypoproteinemia, Leukopenia, Thrombocytopenia ORPHA:99828
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia, Ataxia OMIM:249270
Alport Syndrome
Focal segmental glomerulosclerosis, Nephritis, Thickened glomerular basement membrane, Glomerular... ORPHA:63
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Ataxia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferri... OMIM:603553
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Propionic Acidemia
Pancytopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Neutropenia, Thrombocytopenia, Anemia OMIM:606054
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Relapsing Fever
Increased total bilirubin, Elevated circulating creatinine concentration, Leukopenia, Leukocytosi... ORPHA:91547
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic a... OMIM:617021
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Increased blood urea nitro... OMIM:613845
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Hypokalemic Tubulopathy And Deafness
Ataxia, Increased circulating renin level OMIM:619406
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Neutropenia, Thrombocytopenia, Methylmalon... OMIM:251000
Cog4-Cdg
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia, Ataxia ORPHA:263501
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Hypertriglyceridemi... ORPHA:158048
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating... OMIM:618048
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Lethargy, Neutropenia, Thrombocytopenia, Anemia, M... OMIM:251100
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Rhabdoid Tumor
Anemia, Hypercalcemia, Thrombocytopenia ORPHA:69077
Griscelli Syndrome
Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Ataxia, Abn... ORPHA:381
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Frasier Syndrome
Focal segmental glomerulosclerosis, Renal insufficiency, Nephroblastoma, Proteinuria, Glomerulopa... ORPHA:347
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Lethargy, ... OMIM:277380
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis, Elevated circu... OMIM:619644
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Thrombocytopenia, Anemia... OMIM:185070
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Normocytic hypoplastic anemia, Leukocytosis, Elevat... OMIM:610377
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Athetosis, Dysmetria, Ataxia OMIM:617710
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive hemolytic anemia, Neutrope... OMIM:304790
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Paraproteinemia, Elevated circulating creatinine conce... ORPHA:439232
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Anemia, Thrombocytopenia OMIM:608104
Congenital Enterovirus Infection
Hypoalbuminemia, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage morphology, Neutro... ORPHA:292
Dent Disease
Renal phosphate wasting, Chronic kidney disease, Focal segmental glomerulosclerosis, Aminoaciduri... ORPHA:1652
Hepatoportal Sclerosis
Hypoalbuminemia, Hypersplenism, Hyperbilirubinemia, Leukopenia, Splenomegaly, Thrombocytopenia, A... ORPHA:64743
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Reticulocytosis... OMIM:274150
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia, Increased circulating ferritin concentration OMIM:618886
Cholesteryl Ester Storage Disease
Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism, Hypertriglyceridemia,... OMIM:278000
Sengers Syndrome
Thrombocytopenia OMIM:212350
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Overlap Myositis
Abnormal circulating lipid concentration, Difficulty walking, Leukopenia, Elevated circulating cr... ORPHA:206572
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia OMIM:620484
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Fetal Cytomegalovirus Syndrome
Anemia, Conjugated hyperbilirubinemia, Splenomegaly, Thrombocytopenia ORPHA:294
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Gait ataxia, Thrombocytopenia, Unsteady gait, Normochromic anemia OMIM:254900
Senior-Loken Syndrome 8
Glomerular subepithelial immune-complex deposits, Global glomerulosclerosis, Stage 5 chronic kidn... OMIM:616307
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-... ORPHA:457077
Diffuse Alveolar Hemorrhage
Anemia, Elevated circulating creatinine concentration, Leukocytosis, Thrombocytopenia ORPHA:90060
Holocarboxylase Synthetase Deficiency
Lethargy, Hyperammonemia, Thrombocytopenia OMIM:253270
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Gait disturbance, Abnormal... OMIM:214500
Congenital Rubella Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:290
Immunodeficiency 98 With Autoinflammation, X-Linked
Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, ... OMIM:301078
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Ne... ORPHA:540
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Ataxia OMIM:222300
Alg8-Cdg
Hyponatremia, Anemia, Thrombocytopenia, Ataxia ORPHA:79325
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Necrotizing Enterocolitis
Leukocytosis, Hyponatremia, Lethargy, Thrombocytopenia, Neutropenia ORPHA:391673
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614576
Pauci-Immune Glomerulonephritis
Acute kidney injury, Elevated circulating creatinine concentration, Decreased glomerular filtrati... ORPHA:93126
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Ebola Hemorrhagic Fever
Lymphopenia, Lethargy, Leukopenia, Thrombocytopenia ORPHA:319218
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Elevated circulating creatine kinase concentration, Proteinur... OMIM:607426
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Macrocytic anemia OMIM:301054
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Hoyeraal-Hreidarsson Syndrome
Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Ataxia ORPHA:3322
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Elevated circulating creatine kinase concentration OMIM:618775
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Hy... ORPHA:567546
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Increased circulating ferritin concentratio... ORPHA:77259
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Thrombocytopenia OMIM:620365
Pseudo-Torch Syndrome 2
Lethargy, Thrombocytopenia OMIM:617397
Neuroblastoma
Increased circulating ferritin concentration, Antalgic gait, Thrombocytopenia, Ataxia, Anemia ORPHA:635
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Inability to walk, Leukopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia OMIM:617303
Epidermolysis Bullosa Simplex With Pyloric Atresia
Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, Aplasia of the bladde... ORPHA:158684
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hyperbilirubinemia, Lethargy, Refractory sideroblastic anemia... OMIM:557000
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Hypernatriuria, Decreased glomerular filtration rate, Reduced renal corticomedu... OMIM:602522
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Wilson Disease
Difficulty walking, Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Ataxia, Anemia, Thromb... OMIM:613990
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Increased mean corpuscular volume, Lymphopenia, Leukopenia, Thrombocytopenia, At... OMIM:127550
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Anemia, Wad... OMIM:242900
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Von Willebrand Disease
Microcytic anemia, Abnormal platelet function, Abnormality of thrombocytes, Thrombocytopenia ORPHA:903
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Decreased proportion of class-switched m... OMIM:614700
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pancytopenia, Leukopenia, Erythroid hyperplasia, Reticu... ORPHA:447
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:301056
Mirage Syndrome
Lymphopenia, Leukopenia, Hyponatremia, Thrombocytopenia, Anemia, Hyperkalemia, Hypoplastic spleen OMIM:617053
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Leukopenia, Thrombocytopenia, Neutropenia, Choreoathetosis OMIM:616271
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Hyperlipidemia, Decreased proportion of na... ORPHA:1830
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... ORPHA:470
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Shwachman-Diamond Syndrome
Normocytic anemia, Hypoamylasemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopen... ORPHA:811
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Wars2-Related Combined Oxidative Phosphorylation Defect
Difficulty walking, Dysmetria, Thrombocytopenia, Ataxia, Athetosis ORPHA:572798
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Hypomagnesemia, Leukocytosis, Hypocalcemia, Hyperuricemia, Elevated circulatin... ORPHA:94093
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Splenomegaly, Thrombocytopenia, Elevated circulating alpha-f... OMIM:251880
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Elevated hepatic iron concentration OMIM:614946
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Sporadic Pheochromocytoma/Secreting Paraganglioma
Elevated urinary dopamine level, Elevated urinary norepinephrine level, Hematuria, Proteinuria, G... ORPHA:276621
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:600901
Lig4 Syndrome
Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia OMIM:606593
Aicardi-Goutieres Syndrome 1
Inability to walk, Splenomegaly, Thrombocytopenia OMIM:225750
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Elevated circulating creatinine concentration, Hypocalcemia, Elevated circulatin... ORPHA:36234
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Sepsis In Premature Infants
Leukocytosis, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia, Elevated circulating C-reactiv... ORPHA:90051
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Cystathioninemia, Hypomethioninemia, Lethargy, Megaloblastic anemia, Hyperhomocystinemia, Neutrop... OMIM:277400
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Fanconi Anemia, Complementation Group A
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227650
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Elevated circulating palmitoleylcarnitine concentration, Hyperammonemia, Hypomethioninemia, Letha... ORPHA:79282
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Castleman Disease
Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corpuscular volume,... ORPHA:160
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Gaucher Disease, Perinatal Lethal
Akinesia, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:608013
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Elevated circulating C-reactive protein concentration, Lymphocytosis, Thrombocytopenia, Decreased... OMIM:617718
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia, Ataxia OMIM:616737
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Tyrosinemia, Type I
Hypermethioninemia, Nephrocalcinosis, Elevated urinary succinylacetone level, Hypophosphatemic ri... OMIM:276700
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Multiple Mitochondrial Dysfunctions Syndrome 7
Lethargy, Hyperglycinemia, Thrombocytopenia, Hypernatremia OMIM:620423
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Gait disturbance, Thrombocytopenia, Ataxia, Anemia ORPHA:77261
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Good Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia OMIM:227645
Lujo Hemorrhagic Fever
Lymphopenia, Leukopenia, Leukocytosis, Thrombocytopenia, Elevated circulating C-reactive protein ... ORPHA:319213
Marburg Hemorrhagic Fever
Hypoalbuminemia, Neutrophilia in presence of infection, Elevated circulating creatinine concentra... ORPHA:99826
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Inability to walk, Hepatosplenomegaly, Leukopenia, Thrombocytopenia, Anemia ORPHA:505248
Congenital Erythropoietic Porphyria
Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentration, Reticulocytosis,... ORPHA:79277
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Chronic leukemia,... ORPHA:906
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Exercise-Induced Malignant Hyperthermia
Hyperphosphatemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Lethargy, Th... ORPHA:466650
Noonan Syndrome 4