Gene Summary

Name:
transcription factor 25 (basic helix-loop-helix)
Synonyms:
1100001J13Rik,  1810041K11Rik,  Nulp1,  D8Ertd325e

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
small testis Tcf25em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00
decreased mean platelet volume Tcf25em1(IMPC)Mbp HOM   Early adult 6.28×10-05
increased freezing behavior Tcf25em1(IMPC)Mbp HOM Early adult 1.85×10-08
thrombocytopenia Tcf25em1(IMPC)Mbp HOM Early adult 1.74×10-05
enlarged kidney Tcf25em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Human diseases caused by Tcf25 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 Tcf25 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia OMIM:620484
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... OMIM:613496
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
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
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Myh9-Related Disease
Nephropathy, Nephritis, Giant platelets, Renal insufficiency, Proteinuria, Congenital thrombocyto... ORPHA:182050
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Nephrotic Syndrome, Type 7
Thickened glomerular basement membrane, Acute kidney injury, Stage 5 chronic kidney disease, Podo... OMIM:615008
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Congenital Megacalycosis
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... ORPHA:93109
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Hepatorenocardiac Degenerative Fibrosis
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... OMIM:619902
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Menorrhagia, Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation OMIM:124900
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Atypical Hemolytic Uremic Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocytopenia ORPHA:2134
Nephronophthisis 3
Nephronophthisis, Polydipsia, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, R... OMIM:604387
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombopoietin concentration OMIM:620478
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Nephronophthisis 16
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... OMIM:615382
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Enlarged polycystic ovaries, Elevated ci... ORPHA:90301
Aa Amyloidosis
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Adrenal insufficienc... ORPHA:85445
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Nephropathy, Decreased proportion of CD8-positive T cells, Lympho... OMIM:301000
Thyrocerebrorenal Syndrome
Nephritis, Renal insufficiency, Euthyroid goiter, Thrombocytopenia ORPHA:3327
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Wolfram Syndrome, Mitochondrial Form
Hydroureter, Sideroblastic anemia, Hydronephrosis, Megaloblastic anemia, Neutropenia, Thrombocyto... OMIM:598500
Denys-Drash Syndrome
Nephropathy, Focal segmental glomerulosclerosis, Ovarian gonadoblastoma, Uterus didelphys, Gonada... OMIM:194080
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Lymphocytosis, Thrombocytopenia OMIM:617718
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Meckel Syndrome, Type 8
Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys OMIM:613885
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia ORPHA:1980
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis, Thrombocytopenia, Increased mean platelet volume OMIM:300048
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Renal insufficiency, Renal hypoplasia/aplasia, Hepatomegaly, Thromboc... ORPHA:2123
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
Stt3B-Cdg
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia ORPHA:370924
Beta-Thalassemia
Cholelithiasis, Microcytic anemia, Splenomegaly, Abnormal hemoglobin, Irritability, Hypogonadotro... ORPHA:848
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... OMIM:602088
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia OMIM:615597
Transcobalamin Deficiency
Acute kidney injury, Methylmalonic aciduria, Lymphopenia, Pancytopenia, Thrombocytopenia, Neutrop... ORPHA:859
Aicardi-Goutieres Syndrome 6
Splenomegaly, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... OMIM:263200
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Wolfram Syndrome 1
Hydroureter, Sideroblastic anemia, Hydronephrosis, Neurogenic bladder, Megaloblastic anemia, Hypo... OMIM:222300
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas... ORPHA:52901
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Multicystic Dysplastic Kidney
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... ORPHA:1851
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Irritability, Thrombocytopenia, Neutropenia OMIM:229050
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Babesiosis
Depression, Leukopenia, Renal insufficiency, Splenomegaly, Thrombocytopenia, Anorexia, Hepatomega... ORPHA:108
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Renal insufficiency, Reticulocytosis, Hem... ORPHA:54057
Isolated Splenogonadal Fusion
Abnormal penis morphology, Testicular mass, Polysplenia, Bilateral cryptorchidism, Abnormal scrot... ORPHA:457083
Bernard-Soulier Syndrome
Giant platelets, Decreased platelet glycoprotein Ib-IX-V, Partially duplicated kidney, Macroscopi... ORPHA:274
Paternal Uniparental Disomy Of Chromosome 1
Proteinuria, Polyphagia, Episodic hemolytic anemia, Delayed puberty, Membranoproliferative glomer... ORPHA:251004
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Transaldolase Deficiency
Hepatosplenomegaly, Thrombocytopenia, Abnormality of the kidney, Anemia, Abnormal clitoris morpho... ORPHA:101028
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Enlarged kidney, Nephroblastoma OMIM:618272
Amed Syndrome, Digenic
Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid leukemia, Adrenal hypoplasia,... OMIM:619151
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Leukopenia, Splenomegaly, Proteinuria, Hepatomegal... OMIM:617303
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Macro... ORPHA:3077
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, Th... OMIM:249270
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Focal segmental glomerulosclerosis, Chronic kidney disease, Renal hypoplasia, Hyperechogenic kidn... OMIM:613092
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Stage 5 chronic kidney disease, P... OMIM:612925
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Gaucher Disease, Type Iii
Depression, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:231000
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
H Syndrome
Microcytic anemia, Decreased testicular size, Hepatosplenomegaly, Azoospermia, Hypogonadism, Amen... ORPHA:168569
Kallmann Syndrome With Spastic Paraplegia
Unilateral renal agenesis, Hypothalamic gonadotropin-releasing hormone deficiency, Cryptorchidism... OMIM:308750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612924
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Unilateral renal agenesis, Small scrotum, Decreased serum testosterone concentration, Decreased t... OMIM:308700
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Multiple renal cysts,... ORPHA:464329
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Proteinuria, Hematuria, Thrombocy... OMIM:612926
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:610539
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Cryptorchidism, Hydronephrosis, Thrombocytopenia, Hypospadias, Increas... OMIM:616737
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anorexia, Renal insufficiency, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Renal insufficiency, Cryptorchidism, Hydronephrosis, Left ventricular hypertroph... OMIM:611209
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia, Genital ulcers OMIM:616744
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Fanconi Anemia, Complementation Group A
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Abn... OMIM:227650
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Dysphagia, Thrombocytopenia OMIM:615750
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Prostate c... ORPHA:158057
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Renal-Hepatic-Pancreatic Dysplasia 1
Polysplenia, Renal dysplasia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, ... OMIM:208540
Preeclampsia
Chronic kidney disease, Acute kidney injury, Type I diabetes mellitus, Renal insufficiency, Polyc... ORPHA:275555
Rhabdoid Tumor
Renal neoplasm, Irritability, Hematuria, Thrombocytopenia, Anemia ORPHA:69077
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Thrombocytopenia, Hemolytic-uremic syndrome OMIM:614727
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:289916
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Overgrowth of external genitalia, Adrenocortical cytome... OMIM:130650
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Ane... OMIM:600901
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... OMIM:232220
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Thrombocytopenia ORPHA:67048
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction ORPHA:481
Leishmaniasis
Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Hepatomegaly, Thrombocyto... ORPHA:507
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia OMIM:615415
Systemic Lupus Erythematosus
Nephritis, Leukopenia, Lupus nephritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Megaloblastic anemia, Thrombocytopenia, Anorexia ORPHA:49827
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Blood group antigen abnormality, Abnormality of the ovary, A... ORPHA:199310
Primary Myelofibrosis
Extramedullary hematopoiesis, Anorexia, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomeg... ORPHA:824
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia OMIM:619751
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyroidism, Thrombocytopenia ORPHA:83601
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Congenital Disorder Of Glycosylation, Type Iif
Aminoaciduria, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Neutropenia, Ma... OMIM:603585
Endocrine-Cerebroosteodysplasia
Small scrotum, Microphallus, Hyperechogenic kidneys, Cryptorchidism, Ambiguous genitalia, Adrenal... OMIM:612651
Diaphanospondylodysostosis
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia OMIM:608022
Vitamin B12-Unresponsive Methylmalonic Acidemia
Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:27
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Irritability OMIM:612952
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:610333
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Proteinuria, Polyuria, ... OMIM:613845
Isovaleric Acidemia
Hyperglycinuria, Pancytopenia, Leukopenia, Thrombocytopenia, Elevated urinary isovalerylglycine l... OMIM:243500
Lesch-Nyhan Syndrome
Self-injurious behavior, Nephrocalcinosis, Nephrolithiasis, Hyperuricosuria, Megaloblastic anemia... OMIM:300322
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Bone Marrow Failure Syndrome 5
Hypogonadism, Erythroid hypoplasia, Anemia, Pure red cell aplasia, Testicular atrophy OMIM:618165
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Renal insufficiency, Hydronephrosis, Cardiomegaly, Long-chain dicarboxylic acidu... OMIM:608836
Autoimmune Lymphoproliferative Syndrome, Type Iia
Nephritis, Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-ne... OMIM:603909
Osteopetrosis, Autosomal Recessive 8
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:615085
Congenital Toxoplasmosis
Anemia, Hepatomegaly, Cardiomegaly, Thrombocytopenia ORPHA:858
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Lig4 Syndrome
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Amenorrhea, Hypothyroidism, Thrombocytop... OMIM:606593
Mirage Syndrome
Hypospadias, Microphallus, Recurrent urinary tract infections, Lymphopenia, Leukopenia, Decreased... OMIM:617053
Alport Syndrome 1, X-Linked
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:301050
Atelis Syndrome 1
Leukopenia, Attention deficit hyperactivity disorder, Hypothyroidism, Thrombocytopenia, Anemia OMIM:620184
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Irregular menstruation, Thyroiditis, Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolith... ORPHA:79259
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Hydrocele testis, Enlarged kidney, Nephroblastoma ORPHA:276280
Igg4-Related Kidney Disease
Chronic kidney disease, Urethritis, Hematuria, Prostatitis, Abnormality of the anterior pituitary... ORPHA:449395
Immune Thrombocytopenia
Hematuria, Abnormal vaginal bleeding, Thrombocytopenia ORPHA:3002
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
Tyrosinemia, Type I
Nephrocalcinosis, Elevated urinary succinylacetone level, Renal insufficiency, Splenomegaly, Panc... OMIM:276700
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Hepatomegaly, Thromboc... ORPHA:100026
Acrocephalopolydactylous Dysplasia
Polysplenia, Pancreatic fibrosis, Hepatomegaly, Enlarged kidney, Cystic renal dysplasia OMIM:200995
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Hepatomegaly, Eosinophilia, Monocytopenia, Thrombocytopen... OMIM:226990
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Cryptorchidism, Thrombocytopenia, Neutropenia, Normochrom... OMIM:614857
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... OMIM:232200
Autosomal Recessive Polycystic Kidney Disease
Acute kidney injury, Oliguria, Polydipsia, Recurrent urinary tract infections, Hepatosplenomegaly... ORPHA:731
Pediatric-Onset Graves Disease
Polydipsia, Graves disease, Goiter, Puberty and gonadal disorders, Emotional lability, Splenomega... ORPHA:525731
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Splenic cyst, Ovarian cyst, Enlarged kidney OMIM:618188
Aregenerative Anemia
Depression, Pancytopenia, Decreased proportion of CD4-positive helper T cells, Emotional lability... ORPHA:101096
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Urethral atresia, Enlarged kidney OMIM:314390
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Leuk... ORPHA:505248
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Hepatomegaly, Thrombocyt... OMIM:619644
Holocarboxylase Synthetase Deficiency
Organic aciduria, Irritability, Thrombocytopenia, Anorexia ORPHA:79242
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... ORPHA:96181
Osteopetrosis, Autosomal Recessive 4
Splenomegaly, Reticulocytosis, Hepatomegaly, Thrombocytopenia, Anemia OMIM:611490
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Renal agenesis, Horseshoe kidney, Pancytopenia, Cryptorchidism, Ane... OMIM:227645
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Wilson Disease
Depression, Abnormality of the menstrual cycle, Splenomegaly, Aggressive behavior, Hepatomegaly, ... ORPHA:905
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Microphallus, Decreased response to growth hormone stimulation test, Leukopenia... OMIM:603467
Sengers Syndrome
Premature ovarian insufficiency, 3-Methylglutaconic aciduria, Thrombocytopenia OMIM:212350
Acute Promyelocytic Leukemia
Pancytopenia, Leukopenia, Leukocytosis, Metrorrhagia, Hematuria, Addictive alcohol use, Neutropen... ORPHA:520
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Ambiguous genitalia, Micropenis, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Syndromic Diarrhea
Renal hypoplasia, Lymphopenia, Splenomegaly, Hypoplasia of the thymus, Hypothyroidism, Thrombocyt... ORPHA:84064
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Hyperechogenic kidneys, Lymphopenia, Leukopenia, Proteinuria, Neutropenia, Schistocytosis, Anemia... OMIM:301110
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Meacham Syndrome
Accessory spleen, Horseshoe kidney, Septate vagina, Male pseudohermaphroditism, Blind vagina, Bic... OMIM:608978
Congenital Disorder Of Glycosylation, Type Ih
Decreased circulating T4 concentration, Cryptorchidism, Hepatomegaly, Hypothyroidism, Thrombocyto... OMIM:608104
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Letterer-Siwe Disease
Hepatosplenomegaly, Irritability, Neutropenia, Thrombocytopenia, Anemia OMIM:246400
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Annular pancreas, Renal agenesis, Horseshoe kidney, Pancytopenia, C... OMIM:227646
Hemochromatosis, Type 1
Azoospermia, Splenomegaly, Cardiomegaly, Hypogonadotropic hypogonadism, Amenorrhea, Hepatomegaly,... OMIM:235200
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Splenomegaly, Megaloblastic anemia, Thrombocytopenia, Hepatomegaly OMIM:620603
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Trichohepatoenteric Syndrome 1
Galactosuria, Splenomegaly, Thrombocytosis, Hepatomegaly, Hypospadias, Renal cortical microcysts,... OMIM:222470
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Nephropathy, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Glomerulopathy... OMIM:254900
Beckwith-Wiedemann Syndrome
Nephropathy, Cryptorchidism, Hepatomegaly, Visceromegaly, Polycythemia, Abnormal pancreas morphol... ORPHA:116
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hepatome... OMIM:613839
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Snakebite Envenomation
Acute kidney injury, Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Thrombocyt... ORPHA:449285
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Ogden Syndrome
Polycythemia, Decreased testicular size, Cryptorchidism, Irritability, Cardiomegaly, Iron deficie... OMIM:300855
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Obsessive-compulsive trait, Testicular atrophy, Dysphagia OMIM:160900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Relapsing Fever
Acute kidney injury, Abnormality of the urinary system, Leukopenia, Leukocytosis, Hematuria, Thro... ORPHA:91547
Alg9-Cdg
Hypoplasia of the bladder, Abnormal renal artery morphology, Irritability, Hydronephrosis, Hypopl... ORPHA:79328
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Megaloblastic anemia, Thrombocyto... ORPHA:90045
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Reticulocytosis, Proteinuria, Schistocytosis, Thrombocytopenia... OMIM:274150
Helsmoortel-Van Der Aa Syndrome
Enuresis nocturna, Recurrent urinary tract infections, Decreased response to growth hormone stimu... OMIM:615873
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia ORPHA:290
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Unilateral renal agenesis, Hydronephrosis, Thrombocytopenia, Abnormality of the endocrine system,... ORPHA:487796
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:301078
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Penoscrotal hypospadias, ... OMIM:618280
Porphyria Due To Ala Dehydratase Deficiency
Depression, Abnormal fear-induced behavior, Purple urine, Increased urinary porphobilinogen, Abno... ORPHA:100924
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Irritability ORPHA:263501
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Fanconi Anemia, Complementation Group B
Aplastic anemia, Renal agenesis, Hypogonadism, Thrombocytopenia, Micropenis, Hypergonadotropic hy... OMIM:300514
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocytic anemia, Urethral stricture,... OMIM:613990
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Reduced renal corticomedullary differentiation, Ren... OMIM:208085
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Renal insufficiency, Hepatomegaly, Thrombocytopen... ORPHA:457077
Pseudo-Torch Syndrome 3
Acute kidney injury, Leukocytosis, Proteinuria, Cardiomegaly, Congenital thrombocytopenia, Anemia OMIM:618886
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Leukopenia, Vesicoureteral reflux, Cryptorchidism, Hydronephrosis, ... OMIM:301056
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... ORPHA:3226
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Recurrent urinary tract infections, Abnormal leukocyte... ORPHA:169105
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Leprechaunism
Nephrocalcinosis, Long penis, Clitoral hypertrophy, Central hypothyroidism, Overgrowth of externa... ORPHA:508
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Depression, Hypersplenism, Hepatosplenomegaly, Pancytopenia, ... ORPHA:77259
Propionic Acidemia
Hyperglycinuria, Increased level of hippuric acid in urine, Pancytopenia, Hepatomegaly, Thrombocy... OMIM:606054
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... OMIM:614074
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly ORPHA:85212
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Splenomegaly, Thrombocytopenia OMIM:619463
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopenia, Anemia,... ORPHA:398124
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Thrombocytopenia, B l... OMIM:603554
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Hypoplastic anemia, Type I diabetes mellitus, Sideroblastic anemia, Pa... OMIM:557000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Schistocytosis, ... OMIM:235400
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Proteinuria, Thrombocytopenia, Anemia ORPHA:90060
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent urinary tract infections, Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Cr... OMIM:612541
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Transaldolase Deficiency
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytope... OMIM:606003
Von Willebrand Disease, Type 3
Menorrhagia, Thrombocytopenia, Impaired platelet aggregation OMIM:277480
Holocarboxylase Synthetase Deficiency
Elevated urinary 3-methylcrotonylglycine level, Organic aciduria, Irritability, 3-hydroxyisovaler... OMIM:253270
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic aciduria, Leukopenia, Stage 5 chronic kidney disease, Hepatomegaly, Thrombocytopeni... OMIM:251000
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Proximal tubulopathy, Hyperechogenic kidneys, Pancytopenia, Splenomega... OMIM:614576
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Aminoaciduria, Ketonuria, Thrombocytopenia, Neutropenia, Anemia OMIM:614520
Noonan Syndrome 4
Hydronephrosis, Ureteral duplication, Cryptorchidism, Thrombocytopenia OMIM:610733
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Cryptorchidism, Self-mutilation, Hepatomegaly, Attention deficit hyperactivity disorder, Thromboc... OMIM:619005
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop... ORPHA:1830
Boutonneuse Fever
Leukopenia, Renal insufficiency, Thrombocytopenia ORPHA:83313
Pediatric Systemic Lupus Erythematosus
Nephritis, Abnormality of the urinary system, Microangiopathic hemolytic anemia, Lymphopenia, Leu... ORPHA:93552
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Nephroblastoma, Renal malrotat... ORPHA:500095
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... OMIM:617052
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Drug-Induced Lupus Erythematosus
Anemia, Hematuria, Thrombocytopenia ORPHA:231111
Prolidase Deficiency
Splenomegaly, Hepatomegaly, Thrombocytopenia, Hyperimidodipeptiduria, Anemia OMIM:170100
Stormorken Syndrome
Howell-Jolly bodies, Hematuria, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Aggressive behavior, Severe temper tantrums, Thrombocytopenia OMIM:617710
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia OMIM:616638
Mucolipidosis Ii Alpha/Beta
Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Enlarged kidney OMIM:252500
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Methylmalonic Aciduria, Cbla Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Elevated urine 2-methylcitric acid level, Elevat... OMIM:251100
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Thrombocytopenia, Axial malrotation of the kidney, Abnor... ORPHA:3320
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Irritability, Neutropenia, Thrombocytop... ORPHA:292
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:230800
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Acute kidney injury, Impotence, Glycosuria, Pancytopenia, Hemolytic anemi... ORPHA:447
Cholesteryl Ester Storage Disease
Adrenal calcification, Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Adrenal insuf... OMIM:278000
Griscelli Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormality of neutrophils ORPHA:381
Fetal Cytomegalovirus Syndrome
Anemia, Hepatomegaly, Splenomegaly, Thrombocytopenia ORPHA:294
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Von Willebrand Disease
Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Abnormal platelet function, Men... ORPHA:903
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Irritability, Hepatomegaly, Thrombocytopenia, Anemia OMIM:267700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Urinary retention, Hepatosplenomegaly, Pancytopenia, Hepa... ORPHA:79124
Pseudo-Torch Syndrome 2
Hepatomegaly, Abnormal renal corticomedullary differentiation, Thrombocytopenia OMIM:617397
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Persistence of hemoglobin F, Pancytopenia, Hepatomegaly, Acute myeloid leukemia... OMIM:260400
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukopenia, Splenomegaly, Irritability, Hepat... OMIM:603553
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Toxic Epidermal Necrolysis
Polydipsia, Abnormality of the urethra, Abnormal vagina morphology, Dysuria, Renal insufficiency,... ORPHA:537
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased serum testosterone concentration, Decreased libido, Splenomegaly, Cardiomegaly, Hypogon... ORPHA:465508
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism... OMIM:614700
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Elevated urinary va... ORPHA:635
Methylmalonic Aciduria, Cblb Type
Ketonuria, Methylmalonic aciduria, Pancytopenia, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:251110
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Urethral stricture, Thrombocytopenia, Neutropenia OMIM:613989
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Mogs-Cdg
External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hypertrophy, Hypo... ORPHA:79330
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Hepatomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal nat... ORPHA:158061
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, Organic aciduria, Stage 3 chronic kidney disease, Medullary nephrocalcinosi... OMIM:619743
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Felty Syndrome
Recurrent urinary tract infections, Abnormal lymphocyte morphology, Splenomegaly, Hepatomegaly, T... ORPHA:47612
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Hepatomegaly, Megaloblast... OMIM:277380
Lathosterolosis
Horseshoe kidney, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis, Hepatomega... ORPHA:46059
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Cornelia De Lange Syndrome 1
Self-injurious behavior, Renal hypoplasia, Hypoplastic male external genitalia, Reduced renal cor... OMIM:122470
Pseudo-Torch Syndrome 1
Hepatomegaly, Renal insufficiency, Splenomegaly, Thrombocytopenia OMIM:251290
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Overlap Myositis
Leukopenia, Abnormality of the kidney, Thrombocytopenia, Dysphagia, Diabetes mellitus ORPHA:206572
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropenia, Anemia, Abnormal ren... ORPHA:540
Heterotaxy, Visceral, 1, X-Linked
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney OMIM:306955
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Renal agenesis, Persisten... ORPHA:124
Aicardi-Goutieres Syndrome 1
Splenomegaly, Self-mutilation, Hypothyroidism, Thrombocytopenia, Hepatomegaly, Diabetes insipidus OMIM:225750
Dengue Fever
Hepatomegaly, Leukopenia, Thrombocytopenia ORPHA:99828
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Leukocytosis, Reticulocytosis, Ir... ORPHA:90038
21Q22.11Q22.12 Microdeletion Syndrome
Self-injurious behavior, Bruxism, Stereotypical body rocking, Hypoplastic nipples, Tongue thrusti... ORPHA:261323
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Hepatomegaly, Abnormal den... OMIM:214500
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Dysphagia, Cryptorchidism, Thrombocytopenia ORPHA:261250
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dicarboxylic aciduria OMIM:611126
Insulin-Resistance Syndrome Type B
Nephritis, Glycosuria, Insulin-resistant diabetes mellitus, Abnormal circulating leptin concentra... ORPHA:2298
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Stevens-Johnson Syndrome
Abnormality of the urethra, Dysuria, Renal insufficiency, Dyspareunia, Thrombocytopenia, Anemia, ... ORPHA:36426
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Glycogen Storage Disease Of Heart, Lethal Congenital
Cardiomegaly, Enlarged kidney OMIM:261740
Immunodeficiency 40
Hepatomegaly, T lymphocytopenia, Thrombocytopenia OMIM:616433
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:259700
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated urine mevalonic acid level, ... OMIM:610377
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Castleman Disease
Ureteral obstruction, Renal insufficiency, Hematuria, Thrombocytopenia, Anemia, Decreased mean co... ORPHA:160
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Cryptorchidism, Self-m... OMIM:619004
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Irrit... OMIM:259720
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Abno... ORPHA:906
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Unilateral renal agenesis, Renal hypoplasia, Lymphopenia, Pancytopenia, Leukopenia, Vesicouretera... OMIM:620654
Hellp Syndrome
Acute kidney injury, Microangiopathic hemolytic anemia, Hemolytic anemia, Proteinuria, Thrombocyt... ORPHA:244242
Fanconi Anemia
Cryptorchidism, Renal hypoplasia/aplasia, Hypospadias, Decreased fertility in males, Abnormality ... ORPHA:84
Lysinuric Protein Intolerance
Renal fibrosis, Hyperlysinuria, Renal amyloidosis, Hemophagocytosis, Oroticaciduria, Decreased re... ORPHA:470
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancreatic hypoplasia, Hyp... ORPHA:811
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Homocystinuria, Acute kidney injury, Methylmalonic aciduria, Cystathioninuria, Renal... OMIM:277400
Avian Influenza
Acute kidney injury, Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Abnormal fear-induced behavior, Increased circulating ACTH level, Emotional la... OMIM:219090
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Functional abnormality of the bladder, Lymphopenia, Hepatosplenomegaly,... ORPHA:391487
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Dysphagia, Thrombocytopenia ORPHA:319218
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Depression, Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Dysphagia, S... OMIM:157640
Simpson-Golabi-Behmel Syndrome, Type 1
Duplication of renal pelvis, Polysplenia, Supernumerary nipple, Splenomegaly, Cryptorchidism, Pan... OMIM:312870
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia, Hepatomegaly OMIM:617941
Dubowitz Syndrome
Abnormal female external genitalia morphology, Cryptorchidism, Hypoparathyroidism, Hydronephrosis... ORPHA:235
Pearson Syndrome
Glycosuria, Decreased response to growth hormone stimulation test, Pancytopenia, Adrenal insuffic... ORPHA:699
Proteus Syndrome
Long penis, Thymus hyperplasia, Diabetes insipidus, Neoplasm of the thymus, Splenomegaly, Enlarge... ORPHA:744
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Hematuria, Proximal renal tubular acidosis, Motor stereotypy, Self-injurious beha... ORPHA:534
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Aminoaciduria OMIM:614946
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... ORPHA:1775
Sepsis In Premature Infants
Oliguria, Leukocytosis, Splenomegaly, Reversible renal failure, Hepatomegaly, Thrombocytopenia, N... ORPHA:90051
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Dyskeratosis Congenita, X-Linked
Horseshoe kidney, Decreased testicular size, Pancytopenia, Leukopenia, Cryptorchidism, Phimosis, ... OMIM:305000
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Hepatomegaly, ... ORPHA:158048
Shigellosis
Acute kidney injury, Microangiopathic hemolytic anemia, Urethritis, Leukocytosis, Splenic abscess... ORPHA:810
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Cholelithiasis, Normochromic anemia OMIM:618775
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Cryptorchidism, Hydronephrosis, Micropenis, Thrombocytopenia, Anemia, Hypospa... ORPHA:163979
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Gaucher Disease, Type Ii
Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia OMIM:230900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Cardiomegaly, Hepatomegaly, Thrombocytopenia, Anemia, Dysphagia OMIM:608013
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemia OMIM:617591
Lujo Hemorrhagic Fever
Oliguria, Lymphopenia, Leukopenia, Leukocytosis, Renal insufficiency, Microscopic hematuria, Thro... ORPHA:319213
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Renal hypoplasia, Lymphopenia, Cryptorchidism, Hypoth... OMIM:620005
Nijmegen Breakage Syndrome
Recurrent urinary tract infections, Autoimmune hemolytic anemia, Hydronephrosis, Hyperactivity, T... OMIM:251260
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Abnormalit... ORPHA:464343
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Acute kidney injury, Oliguria, Anuria, Decreased glomerular filtration ra... ORPHA:340
Brucellosis
Depression, Intrarenal abscess, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Thrombocyt... ORPHA:1304
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutropenia OMIM:616271
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Gaucher Disease Type 3
Pancytopenia, Splenomegaly, Hematuria, Proteinuria, Hepatomegaly, Delayed puberty, Thrombocytopen... ORPHA:77261
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Thrombocytopenia, Neutropenia, Hepatomegaly, Hemolytic anemia OMIM:308230
Porphyria, Congenital Erythropoietic
Cholelithiasis, Splenomegaly, Red urine, Hepatomegaly, Pink urine, Thrombocytopenia, Reduced eryt... OMIM:263700
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Motor stereotypy, Thrombocytopenia ORPHA:457351
Caroli Syndrome
Hypersplenism, Leukopenia, Leukocytosis, Hepatomegaly, Thrombocytopenia, Abnormal ductus choledoc... ORPHA:480520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Hemophagocytosis, Oroticaciduria, Leukopenia, Stage 5 chronic kidn... OMIM:222700
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, Clitoral hypo... OMIM:147791
Osteopetrosis With Renal Tubular Acidosis
Proximal renal tubular acidosis, Pancytopenia, Leukopenia, Distal renal tubular acidosis, Renal t... ORPHA:2785
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Dicarboxylic aciduria ORPHA:99901
Neuroleptic Malignant Syndrome
Acute kidney injury, Leukocytosis, Proteinuria, Myoglobinuria, Thrombocytopenia, Thrombocytosis, ... ORPHA:94093
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Multiple Mitochondrial Dysfunctions Syndrome 7
Agitation, Irritability, Hyperactivity, Thrombocytopenia, Impulsivity OMIM:620423
Alg12-Cdg
Cryptorchidism, Decreased serum insulin-like growth factor 1, Thrombocytopenia, B lymphocytopenia... ORPHA:79324
Primary Sjögren Syndrome
Normocytic anemia, Thyroiditis, Depression, Parotitis, Lymphopenia, Leukopenia, Decreased proport... ORPHA:289390
Wilson Disease
Aminoaciduria, Glycosuria, Splenomegaly, Hyperphosphaturia, Renal tubular dysfunction, Nephrolith... OMIM:277900
Systemic Lupus Erythematosus
Depression, Leukopenia, Hematuria, Proteinuria, Lupus nephritis, Thrombocytopenia, Anorexia, Hemo... ORPHA:536
Q Fever
Hepatosplenomegaly, Splenomegaly, Hematuria, Hepatomegaly, Thrombocytopenia, Anorexia, Anemia ORPHA:781
Down Syndrome
Polycythemia, Decreased fertility, Type II diabetes mellitus, Acute megakaryocytic leukemia, Rena... ORPHA:870
Hardikar Syndrome
Hypoplasia of the bladder, Hydroureter, Recurrent urinary tract infections, Hypersplenism, Hepato... OMIM:301068
Diamond-Blackfan Anemia 1
Renal hypoplasia, Increased mean corpuscular volume, Persistence of hemoglobin F, Elevated red ce... OMIM:105650
Aicardi-Goutieres Syndrome 7
Pancytopenia, Splenomegaly, Irritability, Hepatomegaly, Hypothyroidism, Thrombocytopenia, Anemia,... OMIM:615846
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Wars2-Related Combined Oxidative Phosphorylation Defect
Aggressive behavior, Dysphagia, Thrombocytopenia ORPHA:572798
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Hepatomegaly, ... OMIM:620376
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Renal insufficiency, Increased circulating myelocyte count, G... ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Leukocytosis, Vesicouretera... OMIM:274000
Necrotizing Enterocolitis
Thrombocytopenia, Leukocytosis, Neutropenia ORPHA:391673
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Generalized aminoaciduria, Splenomegaly, Thrombocytopenia OMIM:251880
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Attention defic... OMIM:620185
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Crimean-Congo Hemorrhagic Fever
Parotitis, Anorexia, Pancytopenia, Leukopenia, Leukocytosis, Emotional lability, Splenomegaly, Ad... ORPHA:99827
Rift Valley Fever
Anemia, Hematuria, Thrombocytopenia, Anorexia ORPHA:319251
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
22Q11.2 Deletion Syndrome
Renal hypoplasia, Depression, Abnormality of thrombocytes, Cholelithiasis, Abnormality of the ute... ORPHA:567
Digeorge Syndrome
Unilateral renal agenesis, Cholelithiasis, Parathyroid hypoplasia, Renal insufficiency, Splenomeg... OMIM:188400
Roberts Syndrome
Clitoral hypertrophy, Long penis, Cryptorchidism, Thrombocytopenia, Polycystic kidney dysplasia ORPHA:3103
Congenital Syphilis
Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia, Nephrotic syndrome ORPHA:499009
Jacobsen Syndrome
Multicystic kidney dysplasia, Annular pancreas, Cryptorchidism, Hydronephrosis, Attention deficit... ORPHA:2308
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia OMIM:147750
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Depression, Hypersplenism, Splenomegaly, Hepatomegaly, Attention deficit hyperact... ORPHA:77293
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Anemia, Thrombocytopenia OMIM:620072
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Methylmalonic aciduria, Renal insufficiency, Glomerulopathy, Megaloblastic anemia, Thr... ORPHA:79282
Farber Disease
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:333
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasia, Increased urinary porphobilinog... ORPHA:79277
Gaucher Disease