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Gene: Tcf25 MGI:1914105

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Gene Summary

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

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 kidney morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00
enlarged kidney Tcf25em1(IMPC)Mbp HOM Early adult 0.00
thrombocytopenia Tcf25em1(IMPC)Mbp HOM Early adult 1.74×10-05
abnormal testis morphology Tcf25em1(IMPC)Mbp HOM Early adult 0.00
increased freezing behavior Tcf25em1(IMPC)Mbp HOM Early adult 1.91×10-08

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.

X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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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
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... OMIM:617610
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Renal agenesis, Unilateral cryptorchidism OMIM:219050
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... OMIM:613496
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Nephrotic Syndrome, Type 7
Hemolytic anemia, Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrom... OMIM:615008
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Enuresis, Irritability, Tics, ... ORPHA:66624
Hepatorenocardiac Degenerative Fibrosis
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... OMIM:619902
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... OMIM:615382
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Preeclampsia/Eclampsia 1
Proteinuria, Thrombocytopenia OMIM:189800
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Menorrhagia, Thrombocytopenia OMIM:124900
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Atypical Hemolytic Uremic Syndrome
Proteinuria, Hematuria, Microangiopathic hemolytic anemia, Acute kidney injury, Thrombocytopenia ORPHA:2134
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Menorrhagia, Anemia OMIM:616176
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Meckel Syndrome, Type 8
Ambiguous genitalia, Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... OMIM:602088
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Abnormality of the kidney, Impaired ADP-induced platelet aggregation,... OMIM:155100
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia, Abnormality of the menstrual cycle ORPHA:721
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Cryptorchidism, Macrothrombocytopenia, Poikilocyto... ORPHA:67044
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis, Thrombocytopenia ORPHA:3327
Denys-Drash Syndrome
Diffuse mesangial sclerosis, True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue... OMIM:194080
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Neutropenia, Diabetes... OMIM:598500
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Hematuria, Glomerulonephritis, Thrombocytopenia OMIM:314000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Anemia, Neutropenia, Congenital thrombocytopenia, Thrombocytopenia OMIM:616738
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Pancreatic cysts, Chronic kidney disease... ORPHA:730
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Thrombocytopenia, Megaloblastic anemia OMIM:601815
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Attention deficit hyperactivit... ORPHA:3000
Forsythe-Wakeling Syndrome
Nephrotic syndrome, Thrombocytopenia OMIM:613606
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia ORPHA:1980
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Irritability, Thrombocytopenia OMIM:615010
Stt3B-Cdg
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia ORPHA:370924
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Pancreatic ... OMIM:263200
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Diffuse Neonatal Hemangiomatosis
Hepatomegaly, Renal insufficiency, Renal hypoplasia/aplasia, Anemia, Abnormal vagina morphology, ... ORPHA:2123
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Wt Limb-Blood Syndrome
Pancytopenia, Cryptorchidism, Leukemia, Hypoplastic anemia, Thrombocytopenia OMIM:194350
Transcobalamin Deficiency
Pancytopenia, Methylmalonic aciduria, Neutropenia, Lymphopenia, Acute kidney injury, Thrombocytop... ORPHA:859
Congenital Disorder Of Glycosylation, Type Ix
Cryptorchidism, Micropenis, Small scrotum, Thrombocytopenia OMIM:615597
Bleeding Disorder, Platelet-Type, 20
Menorrhagia, Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Menorrhagia, Thrombocytopenia OMIM:613554
Malaria
Anemia, Acute kidney injury, Thrombocytopenia ORPHA:673
Beta-Thalassemia
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Thrombocytop... ORPHA:848
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Macro... ORPHA:3077
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney OMIM:618272
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Preeclampsia
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Polycystic ovaries, Type I diabet... ORPHA:275555
Myh9-Related Disease
Renal insufficiency, Proteinuria, Increased mean platelet volume, Giant platelets, Neutrophil inc... ORPHA:182050
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Leukopenia, Irritability, Neutropenia, Thrombocytopenia OMIM:229050
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... ORPHA:251004
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental ... OMIM:617303
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Babesiosis
Hemolytic anemia, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Depression, Leukopen... ORPHA:108
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Unilateral... OMIM:308750
Thrombotic Thrombocytopenic Purpura
Reticulocytosis, Renal insufficiency, Proteinuria, Hematuria, Microangiopathic hemolytic anemia, ... ORPHA:54057
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Thyrocerebroretinal Syndrome
Nephritis, Thrombocytopenia, Goiter OMIM:274240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... OMIM:613092
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
H Syndrome
Histiocytosis, Diabetes mellitus, Abnormality of the kidney, Microcytic anemia, Hepatosplenomegal... ORPHA:168569
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility, Dysphagia OMIM:313200
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior ORPHA:208441
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Menorrh... OMIM:231200
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Niemann-Pick Disease, Type B
Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis, Anemia OMIM:607616
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia, Cryptorchidism... OMIM:249270
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Splenomegaly, Depression, Thrombocytopenia OMIM:231000
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Anemia, Hematuria... OMIM:612925
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Amed Syndrome, Digenic
Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Hypoplasia of the uterus, Leukopeni... OMIM:619151
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia OMIM:603552
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia, Dysphagia OMIM:615750
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612924
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:610539
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorc... OMIM:130650
Kaposiform Lymphangiomatosis
Metrorrhagia, Pancreatic cysts, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Abnormal sple... ORPHA:464329
Fanconi Anemia, Complementation Group A
Male infertility, Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Ren... OMIM:227650
Transaldolase Deficiency
Abnormality of the kidney, Hepatosplenomegaly, Anemia, Abnormality of the clitoris, Thrombocytopenia ORPHA:101028
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Anemia, Hematuria, Microangiopathic hemolytic ane... OMIM:612926
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Asplenia, Pancreatic cysts, Splenomegaly,... OMIM:208540
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:79312
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Glycogen Storage Disease Ib
Hepatomegaly, Pancreatic fibrosis, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental gl... OMIM:232220
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Testicular atrophy, Thrombocytopenia OMIM:613987
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Acute l... ORPHA:158057
Rhabdoid Tumor
Renal neoplasm, Hematuria, Irritability, Anemia, Thrombocytopenia ORPHA:69077
Fanconi Anemia, Complementation Group E
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:600901
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Bleeding Disorder, Platelet-Type, 21
Increased mean platelet volume, Impaired ADP-induced platelet aggregation, Menorrhagia, Impaired ... OMIM:617443
Renal-Hepatic-Pancreatic Dysplasia 2
Asplenia, Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:615415
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Renal insufficiency, Renal tubular dysfunction, Anemia, Neutropenia, Thrombocytopenia ORPHA:289916
Congenital Disorder Of Glycosylation, Type Iik
Hemolytic-uremic syndrome, Hepatomegaly, Thrombocytopenia OMIM:614727
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney OMIM:608022
Hemihyperplasia-Multiple Lipomatosis Syndrome
Hydrocele testis, Nephroblastoma, Ovarian serous cystadenoma, Enlarged kidney ORPHA:276280
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic... OMIM:608836
3-Methylglutaconic Aciduria Type 4
3-Methylglutaconic aciduria, Thrombocytopenia ORPHA:67048
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Sex reversal, Microphallus, Ambig... OMIM:612651
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Lesch-Nyhan Syndrome
Megaloblastic anemia, Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Self-injurious behavior... OMIM:300322
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia, Genital ulcers OMIM:616744
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko... ORPHA:507
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Systemic Lupus Erythematosus
Hemolytic anemia, Lupus nephritis, Leukopenia, Nephritis, Thrombocytopenia OMIM:152700
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Delayed puberty, ... OMIM:232200
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Anemia, Type I diabetes mellitus, Lymphopenia, Thrombocytopenia OMIM:620365
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Dysphagia OMIM:619751
Thiamine-Responsive Megaloblastic Anemia Syndrome
Anorexia, Diabetes mellitus, Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosi... ORPHA:824
Aicardi-Goutieres Syndrome 5
Irritability, Thrombocytopenia OMIM:612952
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Renal insufficiency, Anemia, Leukopenia, Thrombocytopenia ORPHA:27
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Hemophagocytosis, Anemia OMIM:613101
Congenital Disorder Of Glycosylation, Type Iif
Proteinuria, Macrothrombocytopenia, Aminoaciduria, Neutropenia, Decreased platelet glycoprotein I... OMIM:603585
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Pancreatic fibrosis, Polysplenia, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Isovaleric Acidemia
Leukopenia, Pancytopenia, Hyperglycinuria, Thrombocytopenia OMIM:243500
Bone Marrow Failure Syndrome 5
Pure red cell aplasia, Erythroid hypoplasia, Hypogonadism, Testicular atrophy, Anemia OMIM:618165
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Congenital Toxoplasmosis
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly ORPHA:858
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Proteinuria, Chronic neutropenia, Irregular menstruation, Thyroiditis, Stage 5 chro... ORPHA:79259
Tyrosinemia, Type I
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Pancre... OMIM:276700
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Methylmalonic aciduria, Normochromic anemia, Neutropenia, Homocystinuria, Thrombo... OMIM:614857
Autosomal Recessive Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Polydipsia, Biliary hyperplasia, Hypersp... ORPHA:731
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... ORPHA:505248
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Splenomegaly, Thrombocytopenia, Impaired ADP-in... OMIM:153670
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Mirage Syndrome
Recurrent urinary tract infections, Hypergonadotropic hypogonadism, Hypospadias, Adrenal hypoplas... OMIM:617053
Atelis Syndrome 1
Anemia, Leukopenia, Attention deficit hyperactivity disorder, Hypothyroidism, Thrombocytopenia OMIM:620184
Hyperparathyroidism, Transient Neonatal
Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst, Enlarged kidney OMIM:618188
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Lig4 Syndrome
Pancytopenia, Cryptorchidism, Acute lymphoblastic leukemia, Type II diabetes mellitus, Micropenis... OMIM:606593
Igg4-Related Kidney Disease
Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma... ORPHA:449395
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... OMIM:619644
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:615085
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Depression, Emotional lability, Neutropeni... ORPHA:101096
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Polycystic kidney dysplasia, Ambiguous genitalia, Micropenis, Renal dysplasia, Enlarged kidney OMIM:613091
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with dif... ORPHA:525731
Wilson Disease
Hepatomegaly, Abnormality of the menstrual cycle, Aggressive behavior, Splenomegaly, Hypersexuali... ORPHA:905
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... OMIM:226990
Myotonic Dystrophy 1
Hypogonadism, Dysphagia, Cholelithiasis, Obsessive-compulsive trait, Testicular atrophy OMIM:160900
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Fanconi Anemia, Complementation Group C
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227645
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegal... OMIM:613011
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Quebec Platelet Disorder
Menorrhagia, Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Noonan Syndrome 12
Lymphopenia, Decreased response to growth hormone stimulation test, Thrombocytopenia OMIM:618624
Holocarboxylase Synthetase Deficiency
Irritability, Organic aciduria, Thrombocytopenia, Anorexia ORPHA:79242
Fanconi Anemia, Complementation Group F
Decreased response to growth hormone stimulation test, Cryptorchidism, Thrombocytopenia, Renal hy... OMIM:603467
Sengers Syndrome
3-Methylglutaconic aciduria, Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Acute Promyelocytic Leukemia
Pancytopenia, Metrorrhagia, Anorexia, Thrombocytopenia, Leukocytosis, Hematuria, Leukopenia, Addi... ORPHA:520
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Hyperactivity, Decreased response to growth hormone stimulati... OMIM:615873
Beckwith-Wiedemann Syndrome
Ureteral duplication, Cardiomegaly, Vesicoureteral reflux, Nephropathy, Polycythemia, Hypothyroid... ORPHA:116
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Hepatomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:611490
Fanconi Anemia, Complementation Group D2
Duplicated collecting system, Pancytopenia, Hypergonadotropic hypogonadism, Renal agenesis, Ectop... OMIM:227646
Alg9-Cdg
Hepatomegaly, Hypoplasia of the bladder, Ureteral hypoplasia, Irritability, Bicornuate uterus, Hy... ORPHA:79328
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Hydrocele testis, Increased serum testosterone level, Congenital adrenal hy... ORPHA:96181
Ogden Syndrome
Global glomerulosclerosis, Maternal diabetes, Cardiomegaly, Cryptorchidism, Abnormal repetitive m... OMIM:300855
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Glomerulonephritis, Autoimmune thrombocytopenia, Thrombocytopenia, Coombs-positive ... OMIM:304790
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Meacham Syndrome
Accessory spleen, Septate vagina, Male pseudohermaphroditism, Horseshoe kidney, Blind vagina, Bic... OMIM:608978
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia, Anisopoikilo... ORPHA:35858
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Proteinuria, Bilateral cryptorchidism, Thrombocytopenia, Eleva... OMIM:242900
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Anemia, Decreased circulating T4 concentration, Hypothyroidism, Thr... OMIM:608104
Dyskeratosis Congenita, Autosomal Dominant 3
Urethral stricture, Pancytopenia, Aplastic anemia, Cryptorchidism, Urethral stenosis, Leukopenia,... OMIM:613990
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphocytosis, Hemophagocytosis, Neutr... OMIM:308240
Letterer-Siwe Disease
Hepatosplenomegaly, Anemia, Irritability, Neutropenia, Thrombocytopenia OMIM:246400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Hydronephrosis, Increased mean platelet volume OMIM:300048
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Snakebite Envenomation
Neuromuscular dysphagia, Pseudobulbar paralysis, Hypopituitarism, Acute kidney injury, Thrombocyt... ORPHA:449285
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Normochromic anemia, Focal ... OMIM:254900
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increa... ORPHA:98850
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Abnormal erythrocyte enzyme level, Abnormal fear-induced behavior, Depression, Incr... ORPHA:100924
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Reduced natural killer cell count, Thrombocytopenia OMIM:616050
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Hematuria, Increased mean corpuscular... OMIM:617021
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Proteinuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolyt... OMIM:274150
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Recurrent urinary tract infections, Decreased proportion of CD4+CD25... OMIM:619802
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Increased mean corpuscular volume, Thrombocytop... OMIM:613839
Relapsing Fever
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Hematuria, Abnormality of the urinary system, Acu... ORPHA:91547
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Hereditary Folate Malabsorption
Recurrent urinary tract infections, Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, T... ORPHA:90045
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Renal tu... OMIM:208085
Cardiac-Urogenital Syndrome
Bifid scrotum, Accessory spleen, Unilateral cryptorchidism, Cryptorchidism, Enlarged kidney, Apla... OMIM:618280
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Depression, Hypothyroidism, Hashimoto thyroiditis, Thrombocytopenia, Goiter ORPHA:83601
Cog4-Cdg
Irritability, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Congenital Rubella Syndrome
Hepatomegaly, Splenomegaly, Anemia, Type I diabetes mellitus, Thrombocytopenia ORPHA:290
Lymphoid Interstitial Pneumonia
Hepatomegaly, Enlarged kidney ORPHA:79128
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Cryptorchidism, Leukopenia, Vesicoureter... OMIM:301056
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Leukopenia, Tubulointerstit... OMIM:251000
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Anorexia, Hypersplenism, Splenomegaly, Anemia, Leukopeni... ORPHA:77259
Immunodeficiency 98 With Autoinflammation, X-Linked
Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Agranulocytosis, Hemo... OMIM:301078
Leprechaunism
Hepatomegaly, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, Long penis,... ORPHA:508
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... ORPHA:3226
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Propionic Acidemia
Hepatomegaly, Pancytopenia, Increased level of hippuric acid in urine, Hyperglycinuria, Anemia, N... OMIM:606054
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Pseudo-Torch Syndrome 3
Proteinuria, Cardiomegaly, Leukocytosis, Acute kidney injury, Congenital thrombocytopenia, Anemia OMIM:618886
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Intermittent thrombocytopenia, Cryptorchidism, ... OMIM:612541
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Cryptorchidism, Giant platelets, Ane... OMIM:611209
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Unilateral renal agenesis, Splenomegaly, Proximal tubulopathy, Hypere... OMIM:614576
Noonan Syndrome 4
Cryptorchidism, Ureteral duplication, Hydronephrosis, Thrombocytopenia OMIM:610733
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Chronic neutropenia, Neph... ORPHA:500095
Holocarboxylase Synthetase Deficiency
Irritability, Organic aciduria, Elevated urinary 3-methylcrotonylglycine level, 3-hydroxyisovaler... OMIM:253270
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypergonadotropic hypogonadism, Renal agenesis, Hypogonadism, Micropenis, Thromb... OMIM:300514
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Anemia, Neutropenia,... ORPHA:398124
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Pancreatic fibrosis, Anorexia, Thrombocytopenia... OMIM:557000
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Schistocytosis, Microangiopathic hemolytic an... OMIM:235400
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Metrorrhagia, Impaired ADP-induced platelet aggregation, Menorrha... OMIM:614074
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Schimke Immuno-Osseous Dysplasia
Proteinuria, Abnormality of thyroid physiology, Microscopic hematuria, Minimal change glomerulone... ORPHA:1830
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Sitosterolemia 1
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... OMIM:210250
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Attention deficit hyperactivity... OMIM:619005
Mucolipidosis Ii Alpha/Beta
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Enlarged kidney OMIM:252500
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Clitoral hypertrophy, Thrombocytopenia, Splenomegaly, Hepatosplenomeg... OMIM:606003
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Leukopenia, Nephrotic syndrome, Abnormal... ORPHA:93552
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Pancreatic steatosis, Crypt... OMIM:617052
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:277480
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:619463
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Good Syndrome
Abnormal leukocyte morphology, Recurrent urinary tract infections, Diabetes mellitus, Thrombocyto... ORPHA:169105
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Thrombocytopenia OMIM:619980
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Pancytopenia, Ketonuria, Methylmalonic aciduria, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Ketonuria, Anemia, Aminoaciduria, Neutropenia, Thrombocytopenia OMIM:614520
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia OMIM:616638
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Paroxysmal Nocturnal Hemoglobinuria
Hemosiderinuria, Hemolytic anemia, Reticulocytosis, Pancytopenia, Renal insufficiency, Proteinuri... ORPHA:447
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Severe temper tantrums, Thrombocytopenia, Aggressive behavior OMIM:617710
Diffuse Alveolar Hemorrhage
Proteinuria, Leukocytosis, Hematuria, Anemia, Thrombocytopenia ORPHA:90060
Drug-Induced Lupus Erythematosus
Hematuria, Thrombocytopenia, Anemia ORPHA:231111
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Intermediate Osteopetrosis
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:210110
Boutonneuse Fever
Leukopenia, Renal insufficiency, Thrombocytopenia ORPHA:83313
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Anemia, Leukopenia, Irritability, Neutropenia, Thro... ORPHA:292
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Hypothyroidism, Spl... ORPHA:465508
Stormorken Syndrome
Howell-Jolly bodies, Asplenia, Anemia, Hematuria, Hypoplastic spleen, Thrombocytopenia OMIM:185070
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Increased mean platelet volume, Cryptorchidism, Hydroneph... OMIM:616737
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Pancytopenia, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Methylmaloni... OMIM:251100
Griscelli Syndrome
Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:381
Thrombocytopenia-Absent Radius Syndrome
Abnormality of the kidney, Horseshoe kidney, Aplasia of the uterus, Axial malrotation of the kidn... ORPHA:3320
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:259710
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ... ORPHA:79124
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Proteasome-Associated Autoinflammatory Syndrome 2
B lymphocytopenia, Increased CD4:CD8 ratio, Decreased proportion of memory B cells, Thrombocytopenia OMIM:618048
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Irritability, H... OMIM:603553
Prolidase Deficiency
Hepatomegaly, Hyperimidodipeptiduria, Splenomegaly, Anemia, Thrombocytopenia OMIM:170100
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Persistence of hemoglobin F, Anemia, Nephroca... OMIM:260400
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Dyskeratosis Congenita, Autosomal Dominant 2
Urethral stricture, Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Pseudo-Torch Syndrome 2
Hepatomegaly, Abnormal renal corticomedullary differentiation, Thrombocytopenia OMIM:617397
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hepatomegaly, Splenomegaly, Anemia, Leukopenia, Irritability, Hemophagocytosis, Thrombocytopenia OMIM:267700
Cholesteryl Ester Storage Disease
Hepatomegaly, Adrenal calcification, Bone-marrow foam cells, Hypersplenism, Thrombocytopenia, Spl... OMIM:278000
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
Combined Oxidative Phosphorylation Deficiency 55
Stage 3 chronic kidney disease, Anemia, Enuresis, Renal Fanconi syndrome, Organic aciduria, Proxi... OMIM:619743
Macrophage Activation Syndrome
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal natural killer cell c... ORPHA:158061
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney OMIM:306955
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Cornelia De Lange Syndrome 1
Hypospadias, Proteinuria, Ectopic kidney, Cryptorchidism, Abnormal renal morphology, Vesicoureter... OMIM:122470
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Bernard-Soulier Syndrome
Partially duplicated kidney, Decreased platelet glycoprotein Ib-IX-V, Macrothrombocytopenia, Gian... ORPHA:274
Mogs-Cdg
Hepatomegaly, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, In... ORPHA:79330
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Pancytopenia, Megaloblastic anemia, Cystathioninuria, Methylmalonic aciduria, Anemi... OMIM:277380
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Felty Syndrome
Hepatomegaly, Recurrent urinary tract infections, Splenomegaly, Anemia, Neutropenia, Abnormal lym... ORPHA:47612
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Splenomegaly, Anemia, Hemophagocytosis, Neutropenia, Abnormal renal physiology, Thr... ORPHA:540
Toxic Epidermal Necrolysis
Renal insufficiency, Dysuria, Abnormality of the urethra, Dysphagia, Anemia, Neutropenia, Polydip... ORPHA:537
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Diabetes insipidus, Splenomegaly, Hypothyroidism, Self-mutilation, Thrombocytopenia OMIM:225750
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Cardiomegaly OMIM:261740
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Renal insufficiency, Proteinuria, Megaloblastic anemia, Hemolytic-uremic syndrome, Cystathioninur... OMIM:277400
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
16Q24.3 Microdeletion Syndrome
Cryptorchidism, Increased mean corpuscular volume, Thrombocytopenia, Dysphagia ORPHA:261250
Overlap Myositis
Diabetes mellitus, Abnormality of the kidney, Leukopenia, Dysphagia, Thrombocytopenia ORPHA:206572
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Renal agenesis, Pure red cell aplasia, Erythroid hypoplasia,... ORPHA:124
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Hyp... ORPHA:261323
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Reticulocytosis, Anuria, Leukocytosis, Schistocytosis, Hemoglobinuria, Irritability, Microangiopa... ORPHA:90038
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Pseudo-Torch Syndrome 1
Splenomegaly, Renal insufficiency, Thrombocytopenia, Hepatomegaly OMIM:251290
Dengue Fever
Leukopenia, Thrombocytopenia, Hepatomegaly ORPHA:99828
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Neutrope... OMIM:214500
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular ... ORPHA:86839
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia OMIM:259700
Lathosterolosis
Hepatomegaly, Hypoplasia of penis, Anisopoikilocytosis, Abnormal platelet morphology, Horseshoe k... ORPHA:46059
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Supernumerary nipple, Splenomegaly, Cryptorchidism, Renal cyst, Duplic... OMIM:312870
Stevens-Johnson Syndrome
Dyspareunia, Renal insufficiency, Dysuria, Abnormality of neutrophils, Abnormality of the urethra... ORPHA:36426
Fanconi Anemia
Leukopenia, Abnormality of the uterus, Abnormality of the hypothalamus-pituitary axis, Hypospadia... ORPHA:84
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic... OMIM:259720
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Compulsive behaviors, A... ORPHA:534
Lysinuric Protein Intolerance
Hepatomegaly, Proteinuria, Decreased response to growth hormone stimulation test, Glomerulonephri... ORPHA:470
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia ORPHA:64743
Mevalonic Aciduria
Normocytic hypoplastic anemia, Fluctuating splenomegaly, Fluctuating hepatomegaly, Leukocytosis, ... OMIM:610377
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormality of the endocrine system, Fu... ORPHA:391487
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Decreased response to growth hormone stimulatio... OMIM:619004
X-Linked Agammaglobulinemia
Thrombocytopenia, Anemia, Neutropenia ORPHA:47
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly ORPHA:169090
Mitochondrial Complex I Deficiency, Nuclear Type 20
Dicarboxylic aciduria, Thrombocytopenia OMIM:611126
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Proteinuria, Enlarged polycystic ovaries, Abnormal circulating leptin concentra... ORPHA:2298
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Diabetes mellitus, Aplastic anemia,... ORPHA:811
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia, Hepatomegaly OMIM:616433
Wilson Disease
Hypoparathyroidism, Hemolytic anemia, Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly,... OMIM:277900
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Abnormality of neutrophils, Cryptorchidism, Thrombocytopenia, Ac... ORPHA:235
Sepsis In Premature Infants
Hepatomegaly, Splenomegaly, Leukocytosis, Oliguria, Anemia, Reversible renal failure, Neutropenia... ORPHA:90051
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Proteinuria, Hemoglobinuri... ORPHA:244242
Avian Influenza
Leukopenia, Lymphopenia, Acute kidney injury, Thrombocytopenia ORPHA:454836
Pearson Syndrome
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Diabetes mellitus, Pancreatic fibrosis, Decrea... ORPHA:699
Shigellosis
Anorexia, Hemolytic-uremic syndrome, Leukocytosis, Urethritis, Microangiopathic hemolytic anemia,... ORPHA:810
Castleman Disease
Renal insufficiency, Anemia, Decreased mean corpuscular volume, Hematuria, Ureteral obstruction, ... ORPHA:160
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormal T cell subset distribution, Anemia, Hemophagoc... ORPHA:158048
Brucellosis
Hepatomegaly, Glomerulonephritis, Anorexia, Orchitis, Hypersplenism, Leukocytosis, Epididymitis, ... ORPHA:1304
Wiskott-Aldrich Syndrome
Hemolytic anemia, Glomerulopathy, Abnormal eosinophil morphology, Microcytic anemia, Abnormality ... ORPHA:906
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Hypospadias, Phimosis, Cryptorchidism, Thrombocytopenia, Ur... OMIM:305000
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Recurrent urinary tract infections,... OMIM:251260
Dyskeratosis Congenita
Neoplasm of the pancreas, Hepatomegaly, Diabetes mellitus, Abnormality of neutrophils, Thrombocyt... ORPHA:1775
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:608013
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Cryptorchidism, Thrombocytopenia, Micropenis, Hydronephrosis, An... ORPHA:163979
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Aminoaciduria, Anemia OMIM:614946
Hemorrhagic Fever-Renal Syndrome
Anuria, Proteinuria, Glomerulonephritis, Leukocytosis, Chronic kidney disease, Oliguria, Acute tu... ORPHA:340
Lujo Hemorrhagic Fever
Renal insufficiency, Microscopic hematuria, Leukocytosis, Oliguria, Leukopenia, Dysphagia, Lympho... ORPHA:319213
Alg8-Cdg
Thrombocytopenia, Anemia ORPHA:79325
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia, Dysphagia ORPHA:319218
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Cryptorchidism, Thrombocytopenia, Renal hypoplasia, L... OMIM:620005
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Neutropenia, Hyperechogenic pancreas, Thrombocytopenia OMIM:617941
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:230900
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, 3-Methylglutaconic aciduria, Thrombocytopenia, Neutropenia OMIM:616271
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Depression, Hematuria, Leukopenia, Thromb... ORPHA:536
Fetal And Neonatal Alloimmune Thrombocytopenia
Hematuria, Neonatal alloimmune thrombocytopenia ORPHA:853
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Thrombocytopenia, Proximal renal tubular acidosis, Nephrolithiasis, L... ORPHA:2785
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia OMIM:308230
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Self-injurious behavior, Abnormal repetitive mannerisms, Thrombocytopenia ORPHA:457351
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia, Abnormalit... ORPHA:464343
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Neuroleptic Malignant Syndrome
Proteinuria, Urinary incontinence, Leukocytosis, Agitation, Dysphagia, Thrombocytosis, Myoglobinu... ORPHA:94093
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Thrombocytopenia OMIM:618775
Alg12-Cdg
Decreased serum insulin-like growth factor 1, Hypospadias, Cryptorchidism, B lymphocytopenia, Mic... ORPHA:79324
Lysinuric Protein Intolerance
Hepatomegaly, Splenomegaly, Stage 5 chronic kidney disease, Anemia, Leukopenia, Aminoaciduria, Hy... OMIM:222700
Gaucher Disease Type 3
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Anemia, Hematuria, Delayed puberty, Thromb... ORPHA:77261
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Thrombocytopenia ORPHA:2307
Jacobsen Syndrome
Hypospadias, Cryptorchidism, Clitoral hypoplasia, Labial hypoplasia, Annular pancreas, Thrombocyt... OMIM:147791
Hardikar Syndrome
Hepatomegaly, Decreased serum insulin-like growth factor 1, Hypoplasia of the bladder, Renal insu... OMIM:301068
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Caroli Syndrome
Hepatomegaly, Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kidn... ORPHA:480520
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Acyl-Coa Dehydrogenase 9 Deficiency
Dicarboxylic aciduria, Thrombocytopenia ORPHA:99901
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior ORPHA:309246
Necrotizing Enterocolitis
Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Wars2-Related Combined Oxidative Phosphorylation Defect
Dysphagia, Thrombocytopenia, Aggressive behavior ORPHA:572798
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
Q Fever
Hepatomegaly, Anorexia, Splenomegaly, Hepatosplenomegaly, Anemia, Hematuria, Thrombocytopenia ORPHA:781
Bacterial Toxic-Shock Syndrome
Recurrent urinary tract infections, Renal insufficiency, Glomerulonephritis, Increased circulatin... ORPHA:36234
Thrombocytopenia-Absent Radius Syndrome
Ureteral duplication, Renal malrotation, Eosinophilia, Pancreatic cysts, Thrombocytopenia, Leukoc... OMIM:274000
Primary Sjögren Syndrome
Normocytic anemia, Lymphopenia, Renal insufficiency, Abnormality of the kidney, Glomerulonephriti... ORPHA:289390
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Proteinuria, Anorexia, Orchitis, Thrombocytopenia, Leuk... ORPHA:99827
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Splenomegaly, Generalized aminoaciduria, Thrombocytopenia, Hepatomegaly OMIM:251880
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Hypochromic microcytic anemia, Thrombocytopenia ORPHA:3240
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Splenomegaly, Anemia, Nephrotic syndrome, Irritabil... OMIM:615846
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Abnormality of thrombocytes, Cryptorchidism, Sp... ORPHA:567
Chédiak-Higashi Syndrome
Abnormal leukocyte morphology, Pancytopenia, Thrombocytopenia, Splenomegaly, Vacuolated lymphocyt... ORPHA:167
Porphyria, Congenital Erythropoietic
Hemolytic anemia, Hepatomegaly, Splenomegaly, Red urine, Cholelithiasis, Pink urine, Thrombocytop... OMIM:263700
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Renal hypoplasia, Persistenc... OMIM:105650
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Jacobsen Syndrome
Multicystic kidney dysplasia, Cryptorchidism, Attention deficit hyperactivity disorder, Annular p... ORPHA:2308
Roberts Syndrome
Clitoral hypertrophy, Cryptorchidism, Long penis, Polycystic kidney dysplasia, Thrombocytopenia ORPHA:3103
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Ectopic kidney, Cryptorchidism, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Anemia, Attenti... OMIM:620185
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Vexas Syndrome
Macrocytic anemia, Thrombocytopenia OMIM:301054
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Glomerulopathy, Renal insufficiency, Ketonuria, Megaloblastic anemia, Hemolytic-uremic syndrome, ... ORPHA:79282
Digeorge Syndrome
Renal dysplasia, Renal insufficiency, Parathyroid agenesis, Decreased circulating parathyroid hor... OMIM:188400
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia OMIM:615758
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Increased mean platelet volume, Unilateral renal agenesis, Abnormality of the endocr... ORPHA:487796
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Impulsivity, Aggressive behavior,... ORPHA:353281
Rift Valley Fever
Hematuria, Thrombocytopenia, Anemia, Anorexia ORPHA:319251
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Renal insufficiency, Anorexia, Aggressive behavior, Orchitis, Neutr... ORPHA:99826
Chronic Visceral Acid Sphingomyelinase Deficiency
Hepatomegaly, Decreased serum insulin-like growth factor 1, Autoimmune thrombocytopenia, Hyperspl... ORPHA:77293
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pancytopenia, Abnormality of the spleen, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Azoo... ORPHA:2072
Ivic Syndrome
Leukocytosis, Rectovaginal fistula, Thrombocytopenia OMIM:147750
Tick-Borne Encephalitis
Anorexia, Leukocytosis, Depression, Leukopenia, Dysphagia, Thrombocytopenia ORPHA:297
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Red-brown urine, Porphyrinuria, Le... ORPHA:79277
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Gaucher Disease
Hepatomegaly, Pancytopenia, Proteinuria, Splenomegaly, Dysphagia, Depression, Anemia, Hematuria, ... ORPHA:355
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Splenomegaly, Leukopenia, Thrombocytopenia OMIM:300972
Liver Disease, Severe Congenital
Hepatomegaly, Recurrent urinary tract infections, Hypospadias, Cardiomegaly, Biliary hyperplasia,... OMIM:619991
Infection-Related Hemolytic Uremic Syndrome
Hemolytic anemia, Diabetes mellitus, Anuria, Leukocytosis, Oliguria, Acute kidney injury, Nephrot... ORPHA:544482
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Pollakisuria, Attention deficit hy... ORPHA:647
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Eosinophilia, Renal insuffic... ORPHA:797
Acute Liver Failure
Depression, Euphoria, Adrenal insufficiency, Agitation, Emotional lability, Acute kidney injury, ... ORPHA:90062
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
Kikuchi-Fujimoto Disease
Hepatomegaly, Anorexia, Thrombocytopenia, Splenomegaly, Enlargement of parotid gland, Leukopenia,... ORPHA:50918
Fibular Hemimelia
Renal dysplasia, Thrombocytopenia ORPHA:93323
Tangier Disease
Left ventricular hypertrophy, Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:31150
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal renal cortex morphology, Abnormality of the kidney, Thrombocytopenia ORPHA:464321
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Membranoproliferative glomerulonephritis, Microcytic anemia, Splenomegaly, Moderate... OMIM:619525
Aicardi-Goutières Syndrome
Diabetes mellitus, Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia... ORPHA:51
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent urinary tract infections, Hyperactivity, Hypospadias, Abnormality of the kidney, Impuls... ORPHA:353277
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:301072
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Enlargement of parotid gland, Tubulointerstitial nephritis... ORPHA:79078
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Yellow Fever
Renal insufficiency, Neutrophilia, Anuria, Leukocytosis, Pancreatic hyperplasia, Acute kidney inj... ORPHA:99829
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Microcytic anemia, Cardiomegaly, Thrombocytopenia, Splenomegaly, Epididymitis, Elev... OMIM:256040
Noonan Syndrome 1
Male infertility, Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Hypospadias... OMIM:163950
Leptospirosis
Hepatomegaly, Anorexia, Cellular urinary casts, Acute kidney injury, Thrombocytopenia ORPHA:509
Osteogenesis Imperfecta
Hypercalciuria, Nephrolithiasis, Thrombocytopenia, Dysphagia ORPHA:666
Exercise-Induced Malignant Hyperthermia
Acute kidney injury, Oliguria, Thrombocytopenia ORPHA:466650

Histopathology

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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