Gene Summary

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

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
decreased mean platelet volume Tcf25em1(IMPC)Mbp HOM   Early adult 5.93×10-05
enlarged kidney Tcf25em1(IMPC)Mbp HOM Early adult 0.00
abnormal kidney morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00
small testis Tcf25em1(IMPC)Mbp HOM Early adult 0.00
thrombocytopenia Tcf25em1(IMPC)Mbp HOM Early adult 2.05×10-05
increased freezing behavior Tcf25em1(IMPC)Mbp HOM Early adult 6.66×10-08
abnormal testis morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00

Download data as:  TSV  XLS

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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.


XRay Images Whole Body Dorso Ventral

30 Images


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
Matching phenotypes Source
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Trimethylaminuria... ORPHA:468726
Bleeding Disorder, Platelet-Type, 24
Menorrhagia, Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, I... OMIM:619271
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Abnormality of the endocrine system, Giant platelets OMIM:608404
Beemer Lethal Malformation Syndrome
Thrombocytopenia, Ambiguous genitalia OMIM:209970
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Macrothrombocytopenia and progressive sensorineural deafness
Abnormality of the urinary system, Thrombocytopenia, Macrothrombocytopenia, Giant platelets OMIM:600208
Bleeding Disorder, Platelet-Type, 16
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... OMIM:187800
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Nephrotic Syndrome, Type 7
Nephrotic syndrome, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Acute kidney injur... OMIM:615008
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Thrombocytopenia, Lymphocytosis OMIM:617718
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Fechtner syndrome
Neutrophil inclusion bodies, Menorrhagia, Hematuria, Nephritis, Leukocyte inclusion bodies, Stage... OMIM:153640
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia OMIM:185050
Myh9-Related Disease
Neutrophil inclusion bodies, Increased mean platelet volume, Menorrhagia, Nephritis, Giant platel... ORPHA:182050
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... OMIM:619130
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Sebastian syndrome
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies OMIM:605249
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia ORPHA:231393
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Menorrhagia, Leukocyte inclusion bodies, Giant platelets, Thrombocyt... OMIM:155100
Hypogonadism, Male
Testicular atrophy, Micropenis, Male hypogonadism, Hypospadias OMIM:241100
Amegakaryocytic Thrombocytopenia, Congenital
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Thrombocytopenia, Proteinuria ORPHA:2134
Wiskott-Aldrich Syndrome, Autosomal Dominant
Absent microvilli on the surface of peripheral blood lymphocytes, Iron deficiency anemia, Decreas... OMIM:600903
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thro... OMIM:133180
Preeclampsia/Eclampsia 1
Thrombocytopenia, Proteinuria OMIM:189800
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anisocytosis, Poikilocytosis, Cryptorchidism, Macrothrombocytopenia, Anemia o... ORPHA:67044
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Insulin-resistant diabetes mellitus, Polycystic ovaries, Elevated circulating growth hormone conc... ORPHA:90301
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thromb... OMIM:615285
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia OMIM:167850
Bernard-Soulier Syndrome
Thrombocytopenia, Menorrhagia, Giant platelets, Impaired ristocetin-induced platelet aggregation OMIM:231200
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia, Micropenis, Cryptorchidism OMIM:615597
Aa Amyloidosis
Hepatomegaly, Adrenal insufficiency, Nephrotic syndrome, Acute kidney injury, Nephropathy, Hypoth... ORPHA:85445
Gray Platelet Syndrome
Thrombocytopenia, Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly ORPHA:721
Wiskott-Aldrich Syndrome
Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... OMIM:301000
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia, Nephritis, Renal insufficiency ORPHA:3327
Nephronophthisis 16
Nephronophthisis, Polycystic kidney dysplasia, Renal insufficiency, Enlarged kidney OMIM:615382
Bone Marrow Failure Syndrome 5
Testicular atrophy, Anemia, Pure red cell aplasia, Hypogonadism OMIM:618165
Sea-Blue Histiocyte Disease
Thrombocytopenia, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Neutropenia, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Diab... OMIM:598500
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia, Hematuria, Glomerulonephritis OMIM:314000
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Focal segmental glomerulosclerosis, Nephrotic syndrome, Nephropathy, Glomerulopathy, Thrombocytop... OMIM:254900
Forsythe-Wakeling Syndrome
Thrombocytopenia, Nephrotic syndrome OMIM:613606
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia, Decreased testicular size OMIM:601815
Eosinophilia, Familial
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia OMIM:131400
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Abnormal vagina morphology, Anemia, Renal hypoplasia/aplasia, Thrombocytopenia, Ren... ORPHA:2123
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly ORPHA:1980
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia ORPHA:238459
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Pancreatic cysts, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic... OMIM:263200
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hepatomegaly, Hypogonadotropic hypogonadism, Anemia, Abnormal hemoglobin, Cholelithiasis, Splenom... ORPHA:848
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Testicular atrophy OMIM:613987
Nephronophthisis 2
Chronic tubulointerstitial nephritis, Nephronophthisis, Stage 5 chronic kidney disease, Absence o... OMIM:602088
Platelet Signal Processing Defect
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... OMIM:173590
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Neutropenia, Anemia, Congenital thrombocytopenia, Thrombocytopenia, Hydrocele testis OMIM:616738
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Lig4 Syndrome
Amenorrhea, Micropenis, Hypothyroidism, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:606593
Thrombocytopenia, Acute kidney injury, Anemia ORPHA:673
Polycystic ovaries, Acute kidney injury, Type I diabetes mellitus, Chronic kidney disease, Thromb... ORPHA:275555
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... OMIM:300835
Wt Limb-Blood Syndrome
Hypoplastic anemia, Leukemia, Pancytopenia, Thrombocytopenia, Cryptorchidism OMIM:194350
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Reduced sperm motility, Pituitary growth hormone cell adenoma, Decreased glomer... ORPHA:730
Transcobalamin Deficiency
Neutropenia, Methylmalonic aciduria, Acute kidney injury, Lymphopenia, Pancytopenia, Thrombocytop... ORPHA:859
Anemia, Sideroblastic, 5
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia OMIM:619523
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Absent testis, Agonadism, Abnormality of male i... ORPHA:983
Isolated Follicle Stimulating Hormone Deficiency
Oligospermia, Abnormal sperm morphology, Testicular atrophy, Oligomenorrhea, Azoospermia, Hypogon... ORPHA:52901
Thyrocerebroretinal Syndrome
Thrombocytopenia, Nephritis, Goiter OMIM:274240
Acquired Idiopathic Sideroblastic Anemia
Leukocytosis, Thrombocytosis, Hepatomegaly, Neutropenia, Normocytic anemia, Megaloblastic erythro... ORPHA:75564
Thrombocytopenia, Small scrotum, Micropenis, Cryptorchidism ORPHA:370924
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Menorrhagia, Increased mean platelet volume, Stomatocytosis, Splenomegaly, Hemolytic anemia OMIM:153670
Bleeding Disorder, Platelet-Type, 19
Menorrhagia, Macrothrombocytopenia, Anemia OMIM:616176
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Acute Myelomonocytic Leukemia
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Abnormal fear/anxiety-related behavior, Agoraphobia, Claustrophobia, Irritability, Emotional labi... ORPHA:66624
Alpha-Thalassemia-Myelodysplastic Syndrome
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin ORPHA:231401
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemi... OMIM:222300
Refractory Anemia
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... ORPHA:98826
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Nephrotic syndrome, Splenomegaly, Irritability, Thrombocytopenia OMIM:615846
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... OMIM:619041
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Hematuria, Acute kidney injury, Reticulocytosis, Thrombocytope... ORPHA:54057
Renal-Hepatic-Pancreatic Dysplasia 2
Cystic renal dysplasia, Hepatomegaly, Asplenia, Enlarged kidney OMIM:615415
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Mucopolysaccharidosis-Plus Syndrome
Renal tubular atrophy, Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Leukopenia,... OMIM:617303
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Cernunnos-Xlf Deficiency
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia ORPHA:169079
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Gaucher Disease, Type Iii
Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia, Depression OMIM:231000
Polycythemia Vera
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... OMIM:263300
Bernard-Soulier Syndrome
Macroscopic hematuria, Menorrhagia, Decreased platelet glycoprotein Ib-IX-V, Impaired ristocetin-... ORPHA:274
Hepatomegaly, Leukopenia, Splenomegaly, Depression, Thrombocytopenia, Hemolytic anemia, Renal ins... ORPHA:108
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Abnormality of the scrotum, Abnormality of ... ORPHA:457083
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia, Abnormality of the kidney, Abnormality of the clitoris ORPHA:101028
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:603552
Hypospadias, Sex reversal, Micropenis, Ambiguous genitalia, Adrenal hypoplasia, Hyperechogenic ki... OMIM:612651
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Fanconi Anemia, Complementation Group T
Pancytopenia, Thrombocytopenia, Anemia OMIM:616435
H Syndrome
Amenorrhea, Azoospermia, Abnormality of the kidney, Hypogonadism, Micropenis, Hepatosplenomegaly,... ORPHA:168569
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anuria, Hematuria, Anemia, Hemolytic-uremic syndrome, Acute ki... OMIM:612926
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Asplenia, Bile duct proliferation, Renal dysplasia, Enlarged kidn... OMIM:208540
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Thiamine-responsive megaloblastic anemia, Sideroblastic anemia, Diabetes mellitus,... OMIM:249270
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia OMIM:610539
Sitosterolemia 1
Stomatocytosis, Episodic hemolytic anemia, Splenomegaly, Giant platelets, Chronic hemolytic anemi... OMIM:210250
Pelger-Huet Anomaly
Neutropenia, Hyposegmentation of neutrophil nuclei, Giant platelets, Thrombocytopenia, Abnormalit... OMIM:169400
Kaposiform Lymphangiomatosis
Pancreatic cysts, Anemia, Metrorrhagia, Abnormal spleen morphology, Splenomegaly, Hepatosplenomeg... ORPHA:464329
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Prote... ORPHA:251004
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Hashimoto thyroiditis, Goiter, Hypothyroidism, Thrombocytopenia, Anxiety, Depression ORPHA:83601
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Genital ulcers, Hemolytic anemia, Lymphopenia OMIM:616744
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... OMIM:159550
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... ORPHA:521
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute lymphoblastic leukemia, Neutropenia, Nephroblastoma, Abnormal renal physiology, Anemia, Spl... ORPHA:158057
Fanconi Anemia, Complementation Group A
Horseshoe kidney, Renal agenesis, Neutropenia, Leukemia, Ectopic kidney, Anemia, Duplicated colle... OMIM:227650
Rhabdoid Tumor
Thrombocytopenia, Hematuria, Anemia, Irritability, Renal neoplasm ORPHA:69077
Fanconi Anemia, Complementation Group E
Horseshoe kidney, Renal agenesis, Neutropenia, Leukemia, Ectopic kidney, Anemia, Duplicated colle... OMIM:600901
Takenouchi-Kosaki Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Unilateral renal agenesis, Thrombocy... OMIM:616737
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Sengers Syndrome
Thrombocytopenia, 3-Methylglutaconic aciduria OMIM:212350
+173470 integrin, beta-3
Post-transfusion thrombocytopenia, Menorrhagia, Decreased platelet glycoprotein IIb-IIIa, Neonata... OMIM:173470
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:615085
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, 3-Methylglutaconic aciduria ORPHA:67048
Beckwith-Wiedemann Syndrome
Renal cortical cysts, Adrenocortical carcinoma, Adrenocortical cytomegaly, Hepatomegaly, Gonadobl... OMIM:130650
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Azoospermia, Hypogonadotropic hypogonadism, Decreased circulating follicle st... OMIM:308700
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Anemia, Left ventricular hypertrophy, Thrombocytopenia, Cryptorchidi... OMIM:611209
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal tubular dysfunction, Neutropenia, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:289916
Glycogen Storage Disease Ib
Hepatomegaly, Focal segmental glomerulosclerosis, Neutropenia, Decreased glomerular filtration ra... OMIM:232220
Kallmann Syndrome With Spastic Paraplegia
Testicular atrophy, Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hor... OMIM:308750
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Neutropenia, Methylmalonic aciduria, Homocystinuria, Anemia, Thrombocytopenia, Cryptorchidism OMIM:614857
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Thrombocytopenia 5
Anemia, Thrombocytopenia, Neutropenia OMIM:616216
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Thrombocytopenia, Hemolytic anemia, Splenomegaly OMIM:314050
Folate Malabsorption, Hereditary
Neutropenia, Leukopenia, Irritability, Thrombocytopenia, Folate-responsive megaloblastic anemia OMIM:229050
Systemic Lupus Erythematosus
Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia, Hemolytic anemia OMIM:152700
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Amed Syndrome, Digenic
Leukopenia, Anemia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of t... OMIM:619151
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Kennedy Disease
Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction, Decreased fertility ORPHA:481
Beemer-Ertbruggen Syndrome
Thrombocytopenia, Cryptorchidism, Ambiguous genitalia ORPHA:1237
Non-Syndromic Posterior Hypospadias
Ventral shortening of foreskin, Androgen insufficiency, Bifid scrotum, Abnormality of the endocri... ORPHA:95706
Tetragametic Chimerism
Gonadal dysgenesis with female appearance, male, Abnormality of the ovary, True hermaphroditism, ... ORPHA:199310
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis OMIM:613101
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Irritability OMIM:612952
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Thrombocytopenia, Megaloblastic anemia, Hepatomegaly OMIM:613839
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Anemia, Hypothyroidism, Thrombocytopenia, Cryptorchidism OMIM:608104
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Ureteral duplication, Hydronephrosis, Cardiomegaly, Polycystic kidney dysplasia, Lo... OMIM:608836
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:617443
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Hemihyperplasia-Multiple Lipomatosis Syndrome
Ovarian serous cystadenoma, Nephroblastoma, Hydrocele testis, Enlarged kidney ORPHA:276280
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Chronic kidney disease, Anemia, Proteinuria, Hyperechogenic kidneys, Diabetes mellitu... OMIM:613845
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia OMIM:610333
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Thrombocytopenia OMIM:611490
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Hepatomegaly, Leukopenia, Anemia, Thrombocytopenia, Renal insufficiency ORPHA:27
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Hydronephrosis, Neutropenia, Leukopenia, Monocytosis, Hypoplasia of the thymus, Ane... OMIM:612541
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... OMIM:601399
Gray Platelet Syndrome
Menorrhagia, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, I... OMIM:139090
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Hepatomegaly OMIM:614727
Congenital Disorder Of Glycosylation, Type Iif
Neutropenia, Decreased platelet glycoprotein Ib, Proteinuria, Thrombocytopenia, Aminoaciduria, Ma... OMIM:603585
Isovaleric Acidemia
Pancytopenia, Thrombocytopenia, Hyperglycinuria, Leukopenia OMIM:243500
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Renal insufficiency ORPHA:79312
Igg4-Related Kidney Disease
Tubulointerstitial nephritis, Chronic kidney disease, Eosinophilia, Renal interstitial immunoglob... ORPHA:449395
Cystic renal dysplasia, Nephrogenic rest, Nephroblastomatosis, Enlarged kidney OMIM:608022
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Quebec Platelet Disorder
Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypoparathyroidism, Nephrotic syndrome, Nephritis, Stag... OMIM:301050
Acrocephalopolydactylous Dysplasia
Cystic renal dysplasia, Hepatomegaly, Pancreatic fibrosis, Polysplenia, Enlarged kidney OMIM:200995
Congenital Toxoplasmosis
Cardiomegaly, Thrombocytopenia, Anemia, Hepatomegaly ORPHA:858
Aregenerative Anemia
Neutropenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Emotional labilit... ORPHA:101096
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Aggressive behavior, Anemia, Splenomegaly, Hype... ORPHA:905
Glycogen Storage Disease Ia
Hepatomegaly, Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolit... OMIM:232200
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Chronic neutropenia, Hepatomegaly, Menorrhagia, Nephrocalcinosis, Abnormal myeloid leukocyte morp... ORPHA:79259
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased B cell count, Hepatomegaly, Elevated proportion of CD4-negative, CD8-negative, alpha-be... OMIM:603909
Omenn Syndrome
B lymphocytopenia, Hepatomegaly, Hypoplasia of the thymus, Anemia, Splenomegaly, Severe B lymphoc... OMIM:603554
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Thrombocytopenia, Sideroblastic anemia OMIM:617021
Tyrosinemia, Type I
Renal Fanconi syndrome, Hepatomegaly, Nephrocalcinosis, Glomerular sclerosis, Splenomegaly, Pancr... OMIM:276700
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Heavy proteinuria, Leukopenia, Nephrotic syndrome, Anemia, Hepatosplenomegaly, Urinary glycosamin... ORPHA:505248
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Neutropenia, Splenomegaly, Lymphocytosis, Pancytopenia, Thrombocytopenia, Aplastic ... OMIM:308240
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Nephrotic syndrome, Monocytosis, Hemolytic-uremic syndrome, Renal insufficiency, Ne... OMIM:619644
Immunodeficiency, Common Variable, 12, With Autoimmunity
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:616576
Horseshoe kidney, Increased mean platelet volume, Anisopoikilocytosis, Schistocytosis, Acanthocyt... OMIM:607330
Mirage Syndrome
Hypospadias, Adrenal insufficiency, Leukopenia, Anemia, Recurrent urinary tract infections, Lymph... OMIM:617053
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Spontaneous abortion, Clitoral hypertrophy, Congenital adrena... ORPHA:96181
Imerslund-Gräsbeck Syndrome
Macrocytic anemia, Anisopoikilocytosis, Neutropenia, Oval macrocytosis, Abnormal hemoglobin conce... ORPHA:35858
Lesch-Nyhan Syndrome
Testicular atrophy, Self-injurious behavior, Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria OMIM:300322
Syndromic Diarrhea
Thrombocytosis, Renal hypoplasia, Increased mean platelet volume, Hepatomegaly, Hypoplasia of the... ORPHA:84064
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Renal dysplasia, Micropenis, Ambiguous genitalia, Polycystic kidney dysplasia, Enlarged kidney OMIM:613091
Fanconi Anemia, Complementation Group C
Horseshoe kidney, Renal agenesis, Neutropenia, Leukemia, Ectopic kidney, Anemia, Duplicated colle... OMIM:227645
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Noonan Syndrome 12
Thrombocytopenia, Decreased response to growth hormone stimulation test, Lymphopenia OMIM:618624
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Abnormal macrophage morphology, Pancytopenia, Thr... ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Neutropenia, Glomerulonephritis, Coombs-positive hemolytic anemia, Anemia, Autoimmune thrombocyto... OMIM:304790
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Leukopenia, Pelvic kidney, Decreased response to growth hormone stimulation tes... OMIM:603467
Gaucher Disease, Type Ii
Thrombocytopenia, Anemia, Hepatomegaly, Splenomegaly OMIM:230900
Primary Myelofibrosis
Leukocytosis, Thrombocytosis, Hepatomegaly, Anemia, Splenomegaly, Hepatosplenomegaly, Poikilocyto... ORPHA:824
Autosomal Recessive Polycystic Kidney Disease
Pancreatic cysts, Stage 5 chronic kidney disease, Splenomegaly, Biliary hyperplasia, Recurrent ur... ORPHA:731
Lymphoproliferative Syndrome 1
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Autoimmune thrombocytopenia, Decreased proportion... OMIM:613011
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Hemochromatosis, Type 1
Testicular atrophy, Hepatomegaly, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism, Cardiom... OMIM:235200
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia OMIM:614171
Hepatomegaly, Hydronephrosis, Inappropriate crying, Hypoplastic nipples, Abnormal renal artery mo... ORPHA:79328
Beckwith-Wiedemann Syndrome
Congenital megaureter, Splenomegaly, Nephropathy, Hypercalciuria, Nephroblastoma, Polycythemia, V... ORPHA:116
Letterer-Siwe Disease
Neutropenia, Anemia, Hepatosplenomegaly, Irritability, Thrombocytopenia OMIM:246400
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Focal segmental glomerulosclerosis, Neutropenia, Nephrotic syndrome, ... OMIM:242900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production OMIM:300367
Trichohepatoenteric Syndrome 1
Hypospadias, Thrombocytosis, Hepatomegaly, Increased mean platelet volume, Renal cortical microcy... OMIM:222470
Sea-Blue Histiocytosis
Thrombocytopenia, Hepatomegaly, Sea-blue histiocytosis, Splenomegaly ORPHA:158029
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia, Diabetes mellitus ORPHA:49827
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Tubulointerstitial nephritis, Methylmalonic aciduria, Leukopenia, Stage 5 chronic k... OMIM:251000
Dyskeratosis Congenita, Autosomal Dominant 2
Leukopenia, Urethral stricture, Pancytopenia, Thrombocytopenia, Aplastic anemia OMIM:613989
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Microangiopathic hemolytic anemia, Abnormal renal physiology, Hemolytic-uremic sy... OMIM:274150
Congenital Rubella Syndrome
Hepatomegaly, Anemia, Splenomegaly, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Organic aciduria ORPHA:79242
Meacham Syndrome
Horseshoe kidney, Accessory spleen, Bicornuate uterus, Septate vagina, Blind vagina, Male pseudoh... OMIM:608978
Idiopathic Aplastic Anemia
Neutropenia, Anemia, Reticulocytopenia, Pancytopenia, Thrombocytopenia ORPHA:88
Proteasome-Associated Autoinflammatory Syndrome 2
Thrombocytopenia OMIM:618048
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Fanconi Anemia, Complementation Group D2
Horseshoe kidney, Renal agenesis, Neutropenia, Annular pancreas, Leukemia, Pelvic kidney, Ectopic... OMIM:227646
Autoinflammation With Infantile Enterocolitis
Anemia, Splenomegaly, Reduced natural killer cell count, Pancytopenia, Thrombocytopenia OMIM:616050
Pediatric-Onset Graves Disease
Mood swings, Hepatomegaly, Increased circulating T4 level, Goiter, Neutropenia in presence of ant... ORPHA:525731
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Intermittent thrombocytopenia, Splenomegaly OMIM:150550
Relapsing Fever
Leukocytosis, Leukopenia, Abnormality of the urinary system, Hematuria, Anemia, Neutrophilia, Acu... ORPHA:91547
Isolated Agammaglobulinemia
Thrombocytopenia, Abnormal lymphocyte morphology, Anemia, Abnormality of neutrophils ORPHA:229717
Central hypothyroidism, Hepatomegaly, Long penis, Nephrocalcinosis, Enlarged ovaries, Labial hype... ORPHA:508
Fanconi Anemia, Complementation Group B
Renal agenesis, Hypogonadism, Micropenis, Hypergonadotropic hypogonadism, Thrombocytopenia, Aplas... OMIM:300514
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Hydronephrosis, Increased mean platelet volume, Abnormality of the endocrine system,... ORPHA:487796
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Anemia, Decreased osteoclast count, Splenomegaly, Absence of renal corticomedullary... OMIM:259720
Pseudo-Torch Syndrome 3
Leukocytosis, Anemia, Cardiomegaly, Acute kidney injury, Congenital thrombocytopenia, Proteinuria OMIM:618886
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Hepatomegaly, Acute leukemia, Splenomegaly, Myeloproliferative disorder, Thrombocyt... ORPHA:3226
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Thrombocytopenia, Leukopenia OMIM:231095
Gamma-Heavy Chain Disease
Hepatomegaly, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Autoimmune thrombocytopenia, ... ORPHA:100026
Specific Granule Deficiency 2
Anemia, Thrombocytopenia, Neutropenia, Absent neutrophil specific granules OMIM:617475
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Hemolytic-uremic syndrome, Acute kidne... OMIM:235400
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Von Willebrand Disease, Type 3
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:277480
Neonatal Lupus Erythematosus
Hemolytic anemia, Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia... ORPHA:398124
Symptomatic Form Of Hemochromatosis Type 1
Testicular atrophy, Hepatomegaly, Infertility, Amenorrhea, Hypogonadotropic hypogonadism, Cardiom... ORPHA:465508
Transaldolase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Throm... OMIM:606003
Fetal Gaucher Disease
Abnormality of the spleen, Hepatomegaly, Splenomegaly, Pancytopenia, Thrombocytopenia ORPHA:85212
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hepatomegaly, Hydronephrosis, Leukopenia, Duplicated collecting system, Micropenis, ... OMIM:301056
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Neutropenia, Methylmalonic aciduria, Anemia, Pancytopenia, Thrombocytopenia, Ketonuria OMIM:251110
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Irritability, Organic aciduria OMIM:253270
Portal Hypertension, Noncirrhotic, 2
Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:619463
Aggressive Systemic Mastocytosis
Leukocytosis, Neutropenia, Thrombocytopenia, Leukemia, Anemia, Abnormal mast cell morphology, Hep... ORPHA:98850
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Proximal tubulopathy, Splenomegaly, Hyperechogenic kidneys, Unilateral renal agenes... OMIM:614576
Osteopetrosis, Autosomal Recessive 2
Anemia, Hepatosplenomegaly, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia OMIM:259710
Thrombocytopenia, Hepatosplenomegaly, Irritability ORPHA:263501
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Chronic neutropenia, Renal malrotation, Bifid ureter, Multicystic kidney dysplasia, Transient neu... ORPHA:500095
Noonan Syndrome 4
Thrombocytopenia, Cryptorchidism, Ureteral duplication, Hydronephrosis OMIM:610733
Drug-Induced Lupus Erythematosus
Thrombocytopenia, Hematuria, Anemia ORPHA:231111
Tufted Angioma
Thrombocytopenia, Anemia ORPHA:1063
Acute Promyelocytic Leukemia
Leukocytosis, Neutropenia, Leukopenia, Hematuria, Anemia, Metrorrhagia, Pancytopenia, Thrombocyto... ORPHA:520
Propionic Acidemia
Hepatomegaly, Neutropenia, Anemia, Increased level of hippuric acid in urine, Hyperglycinuria, Pa... OMIM:606054
Smith-Kingsmore Syndrome
Thrombocytopenia, Cryptorchidism OMIM:616638
Pediatric Systemic Lupus Erythematosus
Leukopenia, Nephrotic syndrome, Microangiopathic hemolytic anemia, Abnormality of the urinary sys... ORPHA:93552
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Neutropenia, Anemia, Thrombocytopenia, Aminoaciduria, Ketonuria OMIM:614520
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Neutropenia, Methylmalonic aciduria, Anemia, Pancytopenia, Thrombocytopenia, Ketonuria OMIM:251100
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Gaucher Disease Type 1
Hepatomegaly, Leukopenia, Hematuria, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocy... ORPHA:77259
Immunodeficiency 10
Thrombocytopenia, Autoimmune hemolytic anemia OMIM:612783
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Focal segmental glomerulosclerosis, Neutropenia, Minim... ORPHA:1830
Snakebite Envenomation
Thrombocytopenia, Acute kidney injury, Hypopituitarism ORPHA:449285
Diffuse Alveolar Hemorrhage
Leukocytosis, Hematuria, Anemia, Thrombocytopenia, Proteinuria ORPHA:90060
Thrombocytopenia-Absent Radius Syndrome
Horseshoe kidney, Aplasia of the uterus, Axial malrotation of the kidney, Thrombocytopenia, Abnor... ORPHA:3320
Boutonneuse Fever
Thrombocytopenia, Renal insufficiency, Leukopenia ORPHA:83313
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Homocystinuria, Megaloblastic anemia, Panc... OMIM:277380
Congenital Enterovirus Infection
Leukocytosis, Neutropenia, Leukopenia, Anemia, Abnormal macrophage morphology, Irritability, Thro... ORPHA:292
Pseudo-Torch Syndrome 1
Thrombocytopenia, Renal insufficiency, Hepatomegaly, Splenomegaly OMIM:251290
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Decreased proportion of CD3-positive T cells, Hepatosplenome... ORPHA:331206
Macrophage Activation Syndrome
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Abnormal nat... ORPHA:158061
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Thrombocytopenia, Cryptorchidism, Aplastic anemia OMIM:613990
Hereditary Folate Malabsorption
Megaloblastic anemia, Recurrent urinary tract infections, Pancytopenia, Thrombocytopenia, Eosinop... ORPHA:90045
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Shwachman-Diamond Syndrome 1
Hepatomegaly, Neutropenia, Nephrocalcinosis, Anemia, Persistence of hemoglobin F, Acute myeloid l... OMIM:260400
Hermansky-Pudlak Syndrome 5
Thrombocytopenia, Menorrhagia OMIM:614074
Griscelli Syndrome
Hepatomegaly, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality of neutrophils ORPHA:381
Gaucher Disease, Type I
Hepatomegaly, Anemia, Splenomegaly, Hypersplenism, Pancytopenia, Thrombocytopenia OMIM:230800
Systemic Mastocytosis With Associated Hematologic Neoplasm
Leukocytosis, Chronic lymphatic leukemia, Hepatomegaly, Normocytic anemia, Normochromic anemia, C... ORPHA:98849
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Inappropriate antidiuretic hormone secretion, Urinary retention, Anemia, Hepatosple... ORPHA:79124
Prolidase Deficiency
Hepatomegaly, Anemia, Splenomegaly, Thrombocytopenia, Hyperimidodipeptiduria OMIM:170100
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Adrenal insufficiency, Leukopenia, Bone-marrow foam cells, Anemia, Splenomegaly, Hy... OMIM:278000
Felty Syndrome
Hepatomegaly, Neutropenia, Abnormal lymphocyte morphology, Anemia, Splenomegaly, Recurrent urinar... ORPHA:47612
Stormorken Syndrome
Thrombocytopenia, Howell-Jolly bodies, Anemia, Asplenia OMIM:185070
Immunodeficiency, Common Variable, 8, With Autoimmunity
Chronic neutropenia, B lymphocytopenia, Decreased proportion of class-switched memory B cells, Sp... OMIM:614700
Good Syndrome
Anemia, Recurrent urinary tract infections, Thymoma, Diabetes mellitus, Aplasia/Hypoplasia of the... ORPHA:169105
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Neutropenia, Cystathioninuria, Methylmalonic aciduria, Hematuria, Megaloblastic anemia, Hemolytic... OMIM:277400
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Hepatomegaly, Self-mutilation, Decreased hemoglobin concentration, Micropenis, Thrombocytopenia, ... OMIM:619005
Leukocytosis, Anemia, Thrombocytopenia ORPHA:3392
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Irritability, Thrombocytopenia, Hemophagocytosis OMIM:267700
Chediak-Higashi Syndrome
Hepatomegaly, Neutropenia, Leukopenia, Abnormal dense granules, Giant neutrophil granules, Anemia... OMIM:214500
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Leukopenia, Anemia, Splenomegaly, Hepatosplenomegaly, Irritability, Pancytopenia, T... OMIM:603553
Horseshoe kidney, Hepatomegaly, Anisopoikilocytosis, Abnormal platelet morphology, Thrombocytopen... ORPHA:46059
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Dicarboxylic aciduria OMIM:611126
Hepatomegaly, Inappropriate antidiuretic hormone secretion, External genital hypoplasia, Cardiome... ORPHA:79330
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Acute myeloid leukemia, Thrombocytopenia, Anemia ... ORPHA:86839
Dengue Fever
Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Blackfan-Diamond Anemia
Hypospadias, Thrombocytosis, Horseshoe kidney, Elevated red cell adenosine deaminase level, Neutr... ORPHA:124
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Self-mutilation, Splenomegaly, Hypothyroidism, Thrombocytopenia OMIM:225750
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Neutropenia, Abnormal renal physiology, Anemia, Splenomegaly, Thrombocytopenia, Hem... ORPHA:540
Cornelia De Lange Syndrome 1
Hypospadias, Hypoplastic labia majora, Renal hypoplasia, Hypoplastic nipples, Self-injurious beha... OMIM:122470
Pseudo-Torch Syndrome 2
Thrombocytopenia, Hepatomegaly OMIM:617397
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Hemoglobinuria, Schistocytosis, Microangiopathic hemolytic anemia, Anuria, Acute ki... ORPHA:90038
Paroxysmal Nocturnal Hemoglobinuria
Renal Fanconi syndrome, Hemoglobinuria, Leukopenia, Erythroid hyperplasia, Chronic kidney disease... ORPHA:447
Bleeding Disorder, Platelet-Type, 17
Absence of alpha granules, Thrombocytopenia OMIM:187900
Insulin-Resistance Syndrome Type B
Abnormal salivary gland morphology, Increased serum testosterone level, Type II diabetes mellitus... ORPHA:2298
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Neutropenia, Enlarged platelet dense granules, Absent platelet dense granules, Sple... OMIM:608233
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia OMIM:259700
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Testicular atrophy, Secondary amenorrhea, Primary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Combined Immunodeficiency Due To Crac Channel Dysfunction
Thrombocytopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly ORPHA:169090
Nijmegen Breakage Syndrome
B lymphocytopenia, Hydronephrosis, Recurrent urinary tract infections, Premature ovarian insuffic... OMIM:251260
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Generalized aminoaciduria, Hepatomegaly, Splenomegaly OMIM:251880
Hepatoportal Sclerosis
Leukopenia, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia ORPHA:64743
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Fanconi Anemia
Hypospadias, Abnormal localization of kidney, Abnormality of the hypothalamus-pituitary axis, Dec... ORPHA:84
Shwachman-Diamond Syndrome
Chronic neutropenia, Macrocytic anemia, Hepatomegaly, Neutropenia, Normocytic anemia, Leukopenia,... ORPHA:811
Shwachman-Diamond Syndrome 2
Hepatomegaly, Normocytic anemia, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia OMIM:617941
Mevalonic Aciduria
Fluctuating splenomegaly, Leukocytosis, Normocytic hypoplastic anemia, Anemia, Fluctuating hepato... OMIM:610377
Avian Influenza
Leukopenia, Spontaneous abortion, Acute kidney injury, Lymphopenia, Thrombocytopenia ORPHA:454836
Simpson-Golabi-Behmel Syndrome, Type 1
Hypospadias, Hepatomegaly, Hydronephrosis, Right ventricular hypertrophy, Renal cyst, Splenomegal... OMIM:312870
Overlap Myositis
Abnormality of the kidney, Thrombocytopenia, Diabetes mellitus, Leukopenia ORPHA:206572
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Cardiomegaly, Apathy, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:608013
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Renovascular hypertensio... ORPHA:391487
16Q24.3 Microdeletion Syndrome
Thrombocytopenia, Cryptorchidism, Increased mean corpuscular volume ORPHA:261250
Catastrophic Antiphospholipid Syndrome
Microangiopathic hemolytic anemia, Coombs-positive hemolytic anemia, Spontaneous abortion, Thromb... ORPHA:464343
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Neutropenia, Anemia, Splenomegaly, Abnormal T cell subset distribution, Pancytopeni... ORPHA:158048
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating follicle stimulating hormone level, Bilateral cryptorchi... OMIM:305400
Castleman Disease
Ureteral obstruction, Hematuria, Anemia, Thrombocytopenia, Decreased mean corpuscular volume, Ren... ORPHA:160
Wiskott-Aldrich Syndrome
Neutropenia, Abnormal platelet function, Acute leukemia, Hypoplasia of the thymus, Chronic leukem... ORPHA:906
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hypospadias, Hydronephrosis, Anemia, Absent gallbladder, Micropenis, Thrombocytopenia, Cryptorchi... ORPHA:163979
Deeah Syndrome
Hepatomegaly, Decreased circulating free T3, Decreased circulating free T4 level, Self-mutilation... OMIM:619004
Dyskeratosis Congenita, X-Linked
Hypospadias, Horseshoe kidney, Leukopenia, Urethral stenosis, Phimosis, Anemia, Acute myeloid leu... OMIM:305000
Hellp Syndrome
Hemoglobinuria, Microangiopathic hemolytic anemia, Acute kidney injury, Proteinuria, Thrombocytop... ORPHA:244242
Immunodeficiency With Hyper-Igm, Type 1
Hepatomegaly, Neutropenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:308230
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Lujo Hemorrhagic Fever
Leukocytosis, Leukopenia, Microscopic hematuria, Oliguria, Lymphopenia, Thrombocytopenia, Anxiety... ORPHA:319213
Sepsis In Premature Infants
Leukocytosis, Hepatomegaly, Neutropenia, Anemia, Reversible renal failure, Splenomegaly, Oliguria... ORPHA:90051
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia, Cholelithiasis OMIM:618775
Stevens-Johnson Syndrome
Dysuria, Anemia, Dyspareunia, Renal insufficiency, Abnormality of the urethra, Thrombocytopenia, ... ORPHA:36426
Cyclic Neutropenia
Thrombocytopenia, Decreased eosinophil count, Lymphopenia, Cyclic neutropenia ORPHA:2686
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Hydronephrosis, Leukopenia, Distal renal tubular acidosis, Renal tubular acidosis, ... ORPHA:2785
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
21Q22.11Q22.12 Microdeletion Syndrome
Inappropriate crying, Hypoplastic nipples, Self-injurious behavior, Anemia, Thrombocytopenia ORPHA:261323
Leukocytosis, Splenic abscess, Microangiopathic hemolytic anemia, Urethritis, Hemolytic-uremic sy... ORPHA:810
Toxic Epidermal Necrolysis
Abnormal vagina morphology, Neutropenia, Dysuria, Anemia, Abnormality of the urethra, Thrombocyto... ORPHA:537
Gaucher Disease Type 3
Hepatomegaly, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Delay... ORPHA:77261
Oculocerebrorenal Syndrome Of Lowe
Self-injurious behavior, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism,... ORPHA:534
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Splenomegaly, Lymphopenia, Thrombocytopenia OMIM:617591
Leukocytosis, Thrombocytosis, Hepatomegaly, Leukopenia, Epididymitis, Anemia, Spontaneous abortio... ORPHA:1304
Primary Sjögren Syndrome
Normocytic anemia, Tubulointerstitial nephritis, Leukopenia, Anxiety, Normochromic anemia, Paroti... ORPHA:289390
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Thrombocytopenia, Anemia ORPHA:79325
Pearson Syndrome
Hepatomegaly, Adrenal insufficiency, Hypoparathyroidism, Neutropenia, Lacticaciduria, Decreased r... ORPHA:699
Caroli Syndrome
Leukocytosis, Hepatomegaly, Leukopenia, Hypersplenism, Polycystic kidney dysplasia, Abnormality o... ORPHA:480520
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Aplasia of the uterus, Horseshoe kidney, Pancreatic cysts, Anemia, Axial malrotatio... OMIM:274000
Jacobsen Syndrome
Hypospadias, Annular pancreas, Labial hypoplasia, Clitoral hypoplasia, Thrombocytopenia, Cryptorc... OMIM:147791
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Dubowitz Syndrome
Hypospadias, Acute lymphoblastic leukemia, Hypoparathyroidism, Hydronephrosis, Anemia, Thrombocyt... ORPHA:235
Lysinuric Protein Intolerance
Hepatomegaly, Tubulointerstitial nephritis, Oroticaciduria, Leukopenia, Glomerulonephritis, Ornit... ORPHA:470
Dyskeratosis Congenita
Hepatomegaly, Abnormal morphology of female internal genitalia, Urethral stenosis, Anemia, Neopla... ORPHA:1775
Neuroleptic Malignant Syndrome
Leukocytosis, Thrombocytosis, Myoglobinuria, Urinary incontinence, Acute kidney injury, Thrombocy... ORPHA:94093
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Lymphopenia, Reticulocytopenia, Thrombocytopenia ORPHA:508542
Necrotizing Enterocolitis
Leukocytosis, Neutropenia, Thrombocytopenia ORPHA:391673
Acyl-Coa Dehydrogenase 9 Deficiency
Thrombocytopenia, Dicarboxylic aciduria ORPHA:99901
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Zika Virus Disease
Thrombocytopenia, Spontaneous abortion ORPHA:448237
Lysinuric Protein Intolerance
Hepatomegaly, Oroticaciduria, Leukopenia, Anemia, Stage 5 chronic kidney disease, Splenomegaly, T... OMIM:222700
Porphyria, Congenital Erythropoietic
Pink urine, Cholelithiasis, Splenomegaly, Thrombocytopenia, Hemolytic anemia OMIM:263700
Hypospadias, B lymphocytopenia, Decreased serum insulin-like growth factor 1, Micropenis, Thrombo... ORPHA:79324
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Decreased urine output, Tubulointerstitial nephritis, Anuria, Decreased glomerular ... ORPHA:340
22Q11.2 Deletion Syndrome
Hypospadias, Renal hypoplasia, Hypoparathyroidism, Abnormality of thrombocytes, Anxiety, Hypoplas... ORPHA:567
Bacterial Toxic-Shock Syndrome
Increased circulating myelocyte count, Increased circulating metamyelocyte count, Recurrent urina... ORPHA:36234
Chédiak-Higashi Syndrome
Abnormal natural killer cell morphology, Neutropenia, Abnormal platelet function, Thrombocytopeni... ORPHA:167
Ebola Hemorrhagic Fever
Thrombocytopenia, Lymphopenia, Leukopenia ORPHA:319218
Jacobsen Syndrome
Hydronephrosis, Annular pancreas, Multicystic kidney dysplasia, Thrombocytopenia, Cryptorchidism,... ORPHA:2308
Dyskeratosis Congenita, Autosomal Dominant 1
Thrombocytopenia, Aplastic anemia, Anemia, Lymphopenia OMIM:127550
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Cholelithiasis, Splenomegaly, Acute p... ORPHA:77293
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia, Aggressive behavior ORPHA:572798
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Thrombocytopenia ORPHA:457351
Diamond-Blackfan Anemia 1
Thrombocytosis, Renal hypoplasia, Elevated red cell adenosine deaminase level, Neutropenia, Conge... OMIM:105650
Hoyeraal-Hreidarsson Syndrome
Thrombocytopenia, Anemia, Abnormal leukocyte morphology ORPHA:3322
Hardikar Syndrome
Hepatomegaly, Hydronephrosis, Decreased serum insulin-like growth factor 1, Bile duct proliferati... OMIM:301068
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia OMIM:147750
Roberts Syndrome
Long penis, Clitoral hypertrophy, Polycystic kidney dysplasia, Thrombocytopenia, Cryptorchidism ORPHA:3103
Adams-Oliver Syndrome
Thrombocytopenia, Leukopenia ORPHA:974
Kasabach-Merritt Syndrome
Neutropenia, Leukopenia, Microangiopathic hemolytic anemia, Anemia, Reticulocytosis, Thrombocytop... ORPHA:2330
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Neutropenia, Methylmalonic aciduria, Megaloblastic anemia, Hemolytic-uremic syndrome, Glomerulopa... ORPHA:79282
Hepatocellular Carcinoma
Thrombocytosis, Hepatomegaly, Type II diabetes mellitus, Polycythemia, Anemia, Emotional lability... ORPHA:88673
Congenital Erythropoietic Porphyria
Erythroid hyperplasia, Leukopenia, Purple urine, Red-brown urine, Porphyrinuria, Splenomegaly, In... ORPHA:79277
Q Fever
Hepatomegaly, Hematuria, Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia ORPHA:781
Crimean-Congo Hemorrhagic Fever
Mood swings, Leukocytosis, Adrenal insufficiency, Hepatomegaly, Leukopenia, Inappropriate antidiu... ORPHA:99827
Rift Valley Fever
Hematuria, Thrombocytopenia, Spontaneous abortion, Anemia ORPHA:319251
Farber Disease
Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:333
Infection-Related Hemolytic Uremic Syndrome
Leukocytosis, Decreased urine output, Anuria, Acute kidney injury, Oliguria, Diabetes mellitus, N... ORPHA:544482
Gaucher Disease
Hepatomegaly, Hematuria, Anemia, Splenomegaly, Pancytopenia, Thrombocytopenia, Proteinuria, Depre... ORPHA:355
Steinert Myotonic Dystrophy
Testicular atrophy, Non-medullary thyroid carcinoma, Anxiety, Endometrial carcinoma, Aggressive b... ORPHA:273
Marburg Hemorrhagic Fever
Leukopenia, Neutrophilia in presence of infection, Aggressive behavior, Abnormal lymphocyte morph... ORPHA:99826
Hepatomegaly, Hypercalciuria, Tubulointerstitial nephritis, Diabetes insipidus, Leukopenia, Nephr... ORPHA:797
Dyskeratosis Congenita, Autosomal Recessive 1
Thrombocytopenia, Aplastic anemia OMIM:224230
Immunodeficiency 47
Hepatomegaly, Normocytic anemia, Leukopenia, Splenomegaly, Accessory spleen, Thrombocytopenia OMIM:300972
Fibular Hemimelia
Thrombocytopenia, Renal dysplasia ORPHA:93323
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Testicular atrophy, Abnormality of the Leydig cells, Ectopic kidney, Cryptorchidism ORPHA:3063
Tick-Borne Encephalitis
Leukocytosis, Depression, Thrombocytopenia, Leukopenia ORPHA:297
Tangier Disease
Left ventricular hypertrophy, Thrombocytopenia, Hepatosplenomegaly, Anemia ORPHA:31150
Acute Liver Failure
Adrenal insufficiency, Euphoria, Acute kidney injury, Emotional lability, Thrombocytopenia, Depre... ORPHA:90062
Congenital Disorder Of Glycosylation, Type Iiw
Moderate albuminuria, Hepatomegaly, Bile duct proliferation, Anemia, Splenomegaly, Microscopic he... OMIM:619525
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Tubulointerstitial nephritis, Nodular goiter, Abnormality of ... ORPHA:79078
Aicardi-Goutières Syndrome
Chronic lymphatic leukemia, Cardiomegaly, Hepatosplenomegaly, Micropenis, Irritability, Diabetes ... ORPHA:51
Idiopathic Hypereosinophilic Syndrome
Leukocytosis, Thrombocytosis, Anemia, Splenomegaly, Myeloproliferative disorder, Hepatosplenomega... ORPHA:3260
Nijmegen Breakage Syndrome
Acute leukemia, Pollakisuria, Thrombocytopenia, Hemolytic anemia, Autoimmune hemolytic anemia ORPHA:647
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Abnormality of the kidney, Abnormal renal cortex morphology ORPHA:464321
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Azoospermia, Anemia, Cholelithiasis, Splenomegaly, Hepatosplenomegaly,... ORPHA:2072
Yellow Fever
Leukocytosis, Anuria, Neutrophilia, Acute kidney injury, Pancreatic hyperplasia, Thrombocytopenia... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Epididymitis, Cardiomegaly, Parotitis, Splenomegaly, Elevated circulating thyroid-s... OMIM:256040
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Lymphopenia, Decreased proportion of CD4-positive T cells, Decreased CD4:CD8 ratio,... OMIM:619573
Kikuchi-Fujimoto Disease
Hepatomegaly, Neutropenia, Leukopenia, Anemia, Splenomegaly, Lymphocytosis, Enlargement of paroti... ORPHA:50918
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Noonan Syndrome 1
Hypospadias, Amegakaryocytic thrombocytopenia, Hypogonadism, Male infertility, Cryptorchidism, Ju... OMIM:163950
Exercise-Induced Malignant Hyperthermia
Thrombocytopenia, Acute kidney injury, Oliguria ORPHA:466650
Osteogenesis Imperfecta
Thrombocytopenia, Hypercalciuria, Nephrolithiasis ORPHA:666
Thrombocytopenia, Acute kidney injury, Hepatomegaly, Cellular urinary casts ORPHA:509


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

There is no histopathology data for Tcf25

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tcf25.

No publications found that use IMPC mice or data for Tcf25.

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MGI Allele Allele Type Produced
Tcf25em1(IMPC)Mbp Exon Deletion Mice, Tissue

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