Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

karyopherin subunit alpha 1
mSRP1,  NPI1,  Rch2,  importin alpha 5,  m-importin-alpha-S1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Kpna1 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 Kpna1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Ovarian Dysgenesis 2
Streak ovary, Delayed puberty, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of... OMIM:300510
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil... ORPHA:90793
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618117
Premature Ovarian Failure 7
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate... OMIM:612964
Leydig Cell Hypoplasia
Cryptorchidism, Male pseudohermaphroditism, Primary amenorrhea, Abnormal internal genitalia, Fema... ORPHA:755
Ovarian Dysgenesis 6
Absence of pubertal development, Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primar... OMIM:618078
Premature Ovarian Failure 18
Irregular menstruation, Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, ... OMIM:619203
Beemer Lethal Malformation Syndrome
Ambiguous genitalia, Thrombocytopenia OMIM:209970
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Abnormal morphology of female internal genitalia,... ORPHA:99429
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum estradiol, Decreased circulating gonadotropin concentration, Decreased serum test... OMIM:614841
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abn... ORPHA:168563
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Abnormal bleeding, Spontaneous hematomas, Thrombocytopenia, Anemia, Macrothrombocytope... OMIM:616176
Immune Thrombocytopenia
Abnormal bleeding, Thrombocytopenia OMIM:188030
Bernard-Soulier Syndrome
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr... OMIM:231200
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ... ORPHA:90797
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:610539
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Gray Platelet Syndrome
Epistaxis, Abnormality of thrombocytes, Bruising susceptibility, Abnormal bleeding, Abnormality o... ORPHA:721
Bleeding Disorder, Platelet-Type, 25
Bruising susceptibility, Excessive bleeding from superficial cuts, Prolonged bleeding after denta... OMIM:620486
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Hydatidiform Mole
Menometrorrhagia, Anemia, Hyperthyroidism, Enlarged uterus ORPHA:99927
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Giant platelets, Leukocyte inclusion bodies, Abnormal bleeding, Bruising susceptibilit... OMIM:155100
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona... OMIM:614837
Bleeding Disorder, Platelet-Type, 9
Bruising susceptibility, Thrombocytopenia OMIM:614200
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia, Post-partum hemorrhage, M... OMIM:124900
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Increased circulating androstenedione conce... OMIM:158330
Transaldolase Deficiency
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased serum bile acid conce... ORPHA:101028
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Decreased serum estradiol, Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormo... OMIM:614842
Diffuse Neonatal Hemangiomatosis
Anemia, Hypercalcemia, Abnormal vagina morphology, Thrombocytopenia ORPHA:2123
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Perrault Syndrome 4
Decreased serum estradiol, Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased... OMIM:615300
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Abnormal bleeding, Impaired arachidonic acid-induced platelet aggregation,... OMIM:619271
Bleeding Disorder, Platelet-Type, 20
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Epistaxis, Thrombocytopenia, Bruising susceptibility, Menorrhagia OMIM:613554
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Thrombocytopenia 9
Abnormal bleeding, Abnormal platelet aggregation, Thrombocytopenia, Decreased circulating thrombo... OMIM:620478
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor... ORPHA:289548
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Estrogen Resistance
Breast aplasia, Hyperinsulinemia, Increased serum estradiol, Polycystic ovaries, Increased circul... OMIM:615363
Bleeding Disorder, Platelet-Type, 22
Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I... OMIM:618462
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemia, Decreased LDL cholesterol concentratio... OMIM:246700
Amed Syndrome, Digenic
Leukopenia, Acute myeloid leukemia, Adrenal hypoplasia, Thrombocytopenia, Anemia, Hypoplasia of t... OMIM:619151
Cholelithiasis, Microcytic anemia, Hypertrophic cardiomyopathy, Abnormal hemoglobin, Splenomegaly... ORPHA:848
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Inc... ORPHA:206484
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Elevated circulating C-reactive protein concentration, Anemia, Hyperbilirubinemia, Thrombocytopenia ORPHA:673
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Immune Thrombocytopenia
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of... ORPHA:3002
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus, Mildly elevated creatine kinase OMIM:600705
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal bleeding, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet... ORPHA:231393
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Elevated circulating luteinizing hormone level, Decreased fertility, Cryptorchidism, Polycystic o... ORPHA:90796
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Elevated systolic blood pressure, Type I diabetes mellitus, Elevated diastolic blood pressure, El... ORPHA:275555
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia OMIM:189800
46,Xy Sex Reversal 3
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo... OMIM:612965
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal... ORPHA:90791
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormality of the ovary, Abnormality of the spleen, Decreased propo... ORPHA:543
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Abnormal bleeding, Petechiae, Thrombocytopenia, Impaired ... OMIM:187800
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, Neutropenia, Hypert... OMIM:603552
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Premature adrenarche, Clitoral hypertrophy, Decreased fertility, Hyperkalemia, Abnormal circulati... ORPHA:90794
Squalene Synthase Deficiency
Bilateral cryptorchidism, Hypocholesterolemia, Decreased LDL cholesterol concentration, Elevated ... OMIM:618156
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De... OMIM:202010
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas... ORPHA:432
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le... OMIM:228300
Bilateral Striopallidodentate Calcinosis
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:1980
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Bruising susceptibility, Reduced platelet alpha gran... OMIM:314050
Platelet Signal Processing Defect
Epistaxis, Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impair... OMIM:173590
Von Willebrand Disease, Type 3
Epistaxis, Abnormal bleeding, Bruising susceptibility, Persistent bleeding after trauma, Prolonge... OMIM:277480
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty, Decreased HDL chol... OMIM:616834
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Micropenis, Hypocholesterolemia, Hydrocele testis, Hypertrophic cardiomyopathy OMIM:618810
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d... OMIM:137560
Phosphoglycerate Dehydrogenase Deficiency
Decreased testicular size, Megaloblastic anemia, Thrombocytopenia OMIM:601815
46,Xx Sex Reversal 2
Small scrotum, Elevated circulating luteinizing hormone level, Bifid scrotum, Decreased serum tes... OMIM:278850
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Breast hypoplasia, Hyperinsulinemia, Absence of puberta... ORPHA:785
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Diffuse alveolar hemorrhage, Increased circul... OMIM:616050
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Nephrog... ORPHA:3130
Congenital Factor Vii Deficiency
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ... ORPHA:327
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Abnormal bleeding, Co... ORPHA:75564
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cardiomyopathy, Sideroblastic anemia, Cryptorchidism, Thiamine-responsive megaloblastic anemia, A... OMIM:249270
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Congenital Disorder Of Glycosylation, Type Ia
Hypoalbuminemia, Cardiomyopathy, Hypocholesterolemia, Hypothyroidism, Prolonged prothrombin time,... OMIM:212065
Hypobetalipoproteinemia, Familial, 1
Decreased HDL cholesterol concentration, Hypocholesterolemia, Acanthocytosis, Decreased LDL chole... OMIM:615558
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia, Hydrocele... OMIM:616738
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Mirage Syndrome
Microphallus, Decreased testicular size, Lymphopenia, Leukopenia, Adrenal insufficiency, Cryptorc... OMIM:617053
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Woodhouse-Sakati Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Abnormal T-wave, Decreased serum ... OMIM:241080
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Gingival bleeding, Epistaxis, Stomatocytosis, Bruising susceptibility, Prolonged bleeding after d... OMIM:153670
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Elevated circulating propionylcarnitine concentration, Cryptorchidism, Hypomethioninemia, Pulmona... OMIM:614857
Pancreatic Lipase Deficiency
Steatorrhea, Hypocholesterolemia OMIM:614338
Müllerian Aplasia And Hyperandrogenism
Abnormal vagina morphology, Abnormality of the ovary, Increased serum testosterone level, Primary... ORPHA:247768
Refractory Anemia
Normocytic anemia, Abnormal bleeding, Anemia of inadequate production, Macrocytic anemia, Erythro... ORPHA:98826
Sitosterolemia 1
Stomatocytosis, Giant platelets, Hyperapobetalipoproteinemia, Abnormal bleeding, Xanthelasma, Ret... OMIM:210250
Snakebite Envenomation
Gingival bleeding, Epistaxis, Hypotension, Cardiogenic shock, Abnormal bleeding, Hypopituitarism,... ORPHA:449285
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Cryptorchidism, Anemia of inadequate production, Anisocytosis, Poikilocytosis... ORPHA:67044
Potocki-Lupski Syndrome
Hypocholesterolemia, Hypothyroidism OMIM:610883
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Reticulocytosis, Arrhythmia, Thrombocytopenia, Decreased serum... ORPHA:54057
Platelet Glycoprotein Iv Deficiency
Abnormal bleeding, Giant platelets, Prolonged bleeding time, Thrombocytopenia OMIM:608404
Lig4 Syndrome
Pancytopenia, Type II diabetes mellitus, Cryptorchidism, Telangiectasia, Amenorrhea, Hypothyroidi... OMIM:606593
Congenital Disorder Of Glycosylation, Type Ih
Hypoalbuminemia, Elevated circulating creatinine concentration, Decreased circulating T4 concentr... OMIM:608104
Quebec Platelet Disorder
Epistaxis, Bruising susceptibility, Thrombocytopenia, Joint hemorrhage, Menorrhagia, Impaired epi... OMIM:601709
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Abnormal bleeding, HbH hemoglobin, Bruising susceptibility, Microcytic anemia, Sp... ORPHA:231401
Myh9-Related Disease
Giant platelets, Bruising susceptibility, Prolonged bleeding time, Spontaneous, recurrent epistax... ORPHA:182050
Acute Myelomonocytic Leukemia
Abnormal bleeding, Leukocytosis, Eosinophilia, Thrombocytopenia, Anemia ORPHA:517
Dengue Fever
Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Bruising susceptibility, ... ORPHA:99828
Bleeding Disorder, Platelet-Type, 17
Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility... OMIM:187900
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Relapsing Fever
Epistaxis, Hypotension, Abnormal bleeding, Increased total bilirubin, Elevated circulating creati... ORPHA:91547
Seckel Syndrome 7
Hypoplasia of the uterus, Central hypothyroidism, Primary amenorrhea OMIM:614851
Bleeding Disorder, Platelet-Type, 15
Epistaxis, Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggrega... OMIM:615193
Woodhouse-Sakati Syndrome
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Abnormal T-wave, Hypogonadism, De... ORPHA:3464
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Pulmonic stenosis, Dys... ORPHA:3109
Gray Platelet Syndrome
Epistaxis, Abnormal bleeding, Abnormal number of alpha granules, Bruising susceptibility, Impaire... OMIM:139090
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Bruising susceptibi... OMIM:616216
Abnormal bleeding, Giant platelets, Subcutaneous hemorrhage, Pulmonary hemorrhage, Abnormal plate... ORPHA:238459
Peroxisome Biogenesis Disorder 3B
Steatorrhea, Elevated circulating phytanic acid concentration, Abnormal bleeding, Hypocholesterol... OMIM:266510
Bleeding Disorder, Platelet-Type, 21
Abnormal bleeding, Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet... OMIM:617443
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia ORPHA:370924
Testicular Agenesis
Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Decreased serum testostero... ORPHA:325124
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Abnormal erythrocyte morphology, Acanthocytosis, A... ORPHA:96180
Lymphoproliferative Syndrome, X-Linked, 1
Hypoalbuminemia, Vasculitis, Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopen... OMIM:308240
Acute Promyelocytic Leukemia
Gingival bleeding, Epistaxis, Diffuse alveolar hemorrhage, Abnormal bleeding, Bruising susceptibi... ORPHA:520
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Blood group antigen abnormality, A... ORPHA:199310
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Prolonged prothrombin time, Elevat... ORPHA:49566
Drug-Induced Lupus Erythematosus
Petechiae, Elevated circulating creatine kinase concentration, Anemia, Increased blood urea nitro... ORPHA:231111
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Ischemic stroke, Raynaud phenomenon, Thrombocytopenia, Hypertension OMIM:615750
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Splenomegaly OMIM:608776
Congenital Disorder Of Glycosylation, Type Ix
Micropenis, Small scrotum, Cryptorchidism, Thrombocytopenia OMIM:615597
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
46,Xy Sex Reversal 4
Gonadal dysgenesis, Elevated circulating creatinine concentration, Hypoplastic labia majora, Incr... OMIM:154230
Sengers Syndrome
Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, Premature ovarian... OMIM:212350
Hypoalbuminemia, Hypocholesterolemia, Cryptorchidism, Hyponatremia, Decreased serum insulin-like ... ORPHA:79324
Von Willebrand Disease
Epistaxis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Bruising susceptibility, Mic... ORPHA:903
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Abnormal bleeding, Palpitations, Leukocytosis, Anemia of inadeq... ORPHA:86839
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Insulin-Resistance Syndrome Type B
Hypoalbuminemia, Hypotriglyceridemia, Abnormal circulating leptin concentration, Abnormal circula... ORPHA:2298
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Elevated circulating alpha-... OMIM:620481
Fetal Parvovirus Syndrome
Anemia, Hypertrophic cardiomyopathy, Thrombocytopenia ORPHA:295
Hypoalbuminemia, Abnormal bleeding, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Spl... ORPHA:507
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Increased total ... OMIM:267700
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Immunodeficiency 114, Folate-Responsive
Increased circulating ferritin concentration, Lymphopenia, Splenomegaly, Megaloblastic anemia, Th... OMIM:620603
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Abnormal vagina morphology, Abnormality of the uterus, Streak ovary, Cryptorchidism, Gonadoblasto... OMIM:194072
Von Willebrand Disease, Platelet-Type
Prolonged bleeding time, Intermittent thrombocytopenia OMIM:177820
Maternal Uniparental Disomy Of Chromosome 6
Clitoral hypertrophy, Congenital adrenal hyperplasia, Increased serum testosterone level, Thrombo... ORPHA:96181
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Lymphoproliferative Syndrome 1
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Leukopenia, Decreas... OMIM:613011
Wolfram Syndrome 1
Cardiomyopathy, Sideroblastic anemia, Hypothyroidism, Megaloblastic anemia, Thrombocytopenia, Tes... OMIM:222300
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Goiter, Leukocytosis, Hyponatremia, Hashimoto thyroiditis, Hypothyroidism, T... ORPHA:83601
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Abnormal bleeding, Bruising susceptibility, Elevated circulating ... OMIM:185070
Rhabdoid Tumor
Hypertension, Internal hemorrhage, Thrombocytopenia, Anemia, Hypercalcemia ORPHA:69077
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Hermansky-Pudlak Syndrome 5
Epistaxis, Bruising susceptibility, Impaired ADP-induced platelet aggregation, Metrorrhagia, Abse... OMIM:614074
Hypoalbuminemia, Hypotriglyceridemia, Abnormal bleeding, Congestive heart failure, Hypocholestero... ORPHA:14
Bernard-Soulier Syndrome
Gingival bleeding, Gastrointestinal hemorrhage, Decreased platelet glycoprotein Ib-IX-V, Giant pl... ORPHA:274
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhe... OMIM:146255
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmonary arterial hyperte... OMIM:613845
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Paroxysmal atrial tachycardia, Megaloblastic anemia, Thrombocytopenia, ... ORPHA:49827
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Increased mean corpuscular volume, Second degree atrioventricular block, Extrame... OMIM:617021
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Splenomegaly, Hyperammonemia, Thrombocytopenia, Neutropenia, Anemia ORPHA:79312
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Supravalvular aortic stenosis... OMIM:618624
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Type I diabetes mellitus, Lymphopenia, Portal hypertension, Cryptorchidism, Thrombocytopenia, Anemia OMIM:620365
Thrombocytopenia 10
Decreased mean platelet volume, Abnormal bleeding, Bruising susceptibility, Petechiae, Spontaneou... OMIM:620484
Primary Myelofibrosis
Abnormal bleeding, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, ... ORPHA:824
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Decreased circulating carnitine concentration, ... ORPHA:99901
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Conjugated hyperbilirubinemia, Splenomegaly OMIM:607765
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy, Leukopenia, Hyperammonemia, Macrocytic anemia, Thrombocytopenia, Anemia ORPHA:27
Immunodeficiency 32B
Hypoalbuminemia, Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocyto... OMIM:226990
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Cholesteryl Ester Storage Disease
Adrenal calcification, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hypersplenism... OMIM:278000
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Congenital Disorder Of Glycosylation, Type Iif
Aortic regurgitation, Subcutaneous hemorrhage, Pulmonary hemorrhage, Decreased platelet glycoprot... OMIM:603585
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes insipidus, Di... OMIM:598500
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141179
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure OMIM:619751
Hepatoportal Sclerosis
Hypoalbuminemia, Gastrointestinal hemorrhage, Abnormal bleeding, Hypersplenism, Hyperbilirubinemi... ORPHA:64743
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Spontaneous... ORPHA:853
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Thyrocerebrorenal Syndrome
Thrombocytopenia, Euthyroid goiter ORPHA:3327
Wiskott-Aldrich Syndrome
Gingival bleeding, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia... ORPHA:906
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Cholelithiasis, Gingival bleeding, Abnormal... ORPHA:77259
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure ORPHA:141184
Idiopathic Aplastic Anemia
Gingival bleeding, Epistaxis, Pancytopenia, Retinal hemorrhage, Ecchymosis, Reticulocytopenia, Th... ORPHA:88
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Pulmonary hemorrhage, Thrombocytopenia, Monoc... OMIM:619644
Congestive heart failure, Leukopenia, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Myocardia... ORPHA:108
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Portal hypertension, Thrombocytopenia, Increased circulating ferritin concent... ORPHA:210136
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Crimean-Congo Hemorrhagic Fever
Gingival bleeding, Pancytopenia, Neutrophilia, Tachycardia, Purpura, Epididymitis, Diffuse alveol... ORPHA:99827
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia, Elevated circulating alpha-fetoprotein concentration OMIM:617243
Propionic Acidemia
Cardiomyopathy, Pancytopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Neutropenia... OMIM:606054
Fanconi Anemia, Complementation Group A
Bruising susceptibility, Male infertility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopeni... OMIM:227650
Secondary Intestinal Lymphangiectasia
Hypoalbuminemia, Intestinal bleeding, Right ventricular failure, Secondary hyperaldosteronism, Re... ORPHA:90363
Chylomicron Retention Disease
Steatorrhea, Hypocholesterolemia, Acanthocytosis ORPHA:71
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Autoimmune hemolytic anemia, Splenomegaly, Petechiae, El... OMIM:603909
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Epistaxis, Bruising susceptibility, Acanthocytosis, Petechiae, Anemia of inadequate production, P... OMIM:300367
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Aplastic anemia, Abnormal bleeding, Pancytopenia,... ORPHA:398124
Congenital Enterovirus Infection
Hypoalbuminemia, Hypotension, Abnormal bleeding, Cardiomyopathy, Leukopenia, Leukocytosis, Hypera... ORPHA:292
Familial Hemophagocytic Lymphohistiocytosis
Hypoalbuminemia, Hemophagocytosis, Bruising susceptibility, Increased circulating ferritin concen... ORPHA:540
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Hemophagocytosis, Increased total bilirubin, Increased circulating ferritin conc... OMIM:603553
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Thrombocytopenia ORPHA:1237
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Cryptorchidism, Elevated circulating creatine kinase concentration, Thrombocytopenia,... OMIM:301056
Fanconi Anemia, Complementation Group E
Bruising susceptibility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Th... OMIM:600901
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Bruising susceptibility, Impaired arachidonic acid-induced p... OMIM:601399
Overlap Myositis
Abnormal circulating lipid concentration, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:206572
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypocalcemia, Hypoparathyroidism, Aplas... ORPHA:2237
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Abnormal bleeding, Thrombocytopenia OMIM:314000
Kaufman Oculocerebrofacial Syndrome
Hypocholesterolemia, Clitoral hypertrophy, Hypoplastic labia majora OMIM:244450
Transaldolase Deficiency
Clitoral hypertrophy, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Telangiectasia, Thrombocyto... OMIM:606003
Thrombocytopenia, Paris-Trousseau Type
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia OMIM:188025
Schimke Immunoosseous Dysplasia
Elevated circulating thyroid-stimulating hormone concentration, Bilateral cryptorchidism, Lymphop... OMIM:242900
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Elevated circulating creatine kinase concentration, ... OMIM:618775
Abnormality of the ovary, Decreased level of plasminogen, Abnormal fallopian tube morphology, Cer... ORPHA:722
Fetal Cytomegalovirus Syndrome
Retinal hemorrhage, Petechiae, Splenomegaly, Thrombocytopenia, Anemia, Conjugated hyperbilirubinemia ORPHA:294
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Leukopenia, Hyperglycinemia, Hyperammonemia, Cerebellar hemorrhage, Neutropenia, ... OMIM:251000
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Bruising susceptibility, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal n... ORPHA:3226
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Cerebral... OMIM:618886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperlipidemia,... OMIM:235400
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Hepatosplenomegaly, Hypercholesterolemia, Thrombocytopenia ORPHA:263501
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Thrombocytopenia, B lymphocytopenia, Elevated circulating... OMIM:618048
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukoc... ORPHA:98850
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Excessive bleeding after a venipuncture, Tach... ORPHA:99826
Pediatric-Onset Graves Disease
Graves disease, Sinus tachycardia, Goiter, Congestive heart failure, Puberty and gonadal disorder... ORPHA:525731
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Portal hypertension, Petechiae, Splenomegaly, Ecchymosis, Thrombocytopenia OMIM:619463
Isovaleric Acidemia
Pancytopenia, Cerebellar hemorrhage, Leukopenia, Thrombocytopenia OMIM:243500
Smith-Lemli-Opitz Syndrome
Precocious puberty, Small scrotum, Hypoalbuminemia, Bifid scrotum, Hypertrophic cardiomyopathy, H... OMIM:270400
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612926
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Hypertrophic card... ORPHA:464321
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Atelis Syndrome 1
Anemia, Leukopenia, Hypothyroidism, Thrombocytopenia OMIM:620184
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:609441
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612924
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Elevated circulating propionylcarnitine concentration, Pancytopenia, Hype... OMIM:251110
Dubowitz Syndrome
Aplastic anemia, Hypocholesterolemia, Cryptorchidism, Acute lymphoblastic leukemia, Hypospadias OMIM:223370
Tufted Angioma
Anemia, Purpura, Petechiae, Thrombocytopenia ORPHA:1063
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Abnormal bleeding, Bruising susceptibility, Hepatosplenomegaly, M... ORPHA:464329
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... ORPHA:572333
Addison Disease
Adrenal calcification, Hypoparathyroidism, Premature ovarian insufficiency, Hyperkalemia, Thymoma... ORPHA:85138
Fanconi Anemia, Complementation Group B
Aplastic anemia, Hypogonadism, Thrombocytopenia, Micropenis, Hypergonadotropic hypogonadism OMIM:300514
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Increased blood... OMIM:612925
Diffuse Alveolar Hemorrhage
Elevated circulating creatinine concentration, Leukocytosis, Pulmonary venous hypertension, Throm... ORPHA:90060
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Avian Influenza
Hypoalbuminemia, Congestive heart failure, Lymphopenia, Leukopenia, Elevated circulating creatine... ORPHA:454836
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Abnormal bleeding, Hypersegmentation of neutrophil nuclei, Pancytopenia, Ret... ORPHA:35858
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Congestive heart failure, Lymphopenia, Transient ischem... ORPHA:1830
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Tangier Disease
Hypocholesterolemia, Hepatosplenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia ORPHA:31150
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Fanconi Anemia, Complementation Group C
Bruising susceptibility, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Neutropenia, Th... OMIM:227645
Congenital Disorder Of Glycosylation, Type Iil
Abnormal bleeding, Pancytopenia, Splenomegaly, Elevated circulating creatine kinase concentration... OMIM:614576
Platelet Disorder, Undefined
Abnormal bleeding, Prolonged bleeding time, Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Anemia, Thrombocytopenia, Elevated circulating C-... ORPHA:457077
Sea-Blue Histiocytosis
Abnormal bleeding, Sea-blue histiocytosis, Petechiae, Splenomegaly, Thrombocytopenia ORPHA:158029
Lumbar Syndrome
Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Ambiguous genitalia, Micropenis, Bifid u... ORPHA:83628
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Transient ische... OMIM:274150
Ivic Syndrome
Arrhythmia, Rectovaginal fistula, Leukocytosis, Thrombocytopenia ORPHA:2307
Dyskeratosis Congenita, Autosomal Dominant 3
Gastrointestinal hemorrhage, Aplastic anemia, Pancytopenia, Leukopenia, Cryptorchidism, Macrocyti... OMIM:613990
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Noonan Syndrome 4
Abnormal bleeding, Bruising susceptibility, Hypertrophic cardiomyopathy, Cryptorchidism, Thromboc... OMIM:610733
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Splenomegaly, Mitral regurgitation... OMIM:230800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Hypothyroidism, ... OMIM:304790
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia ORPHA:290
Thrombocytopenia 2
Bruising susceptibility, Abnormal platelet volume, Leukocytosis, Abnormal platelet shape, Thrombo... OMIM:188000
Osteopetrosis, Autosomal Recessive 4
Petechiae, Splenomegaly, Reticulocytosis, Thrombocytopenia, Anemia OMIM:611490
Smith-Kingsmore Syndrome
Cryptorchidism, Thrombocytopenia OMIM:616638
Griscelli Syndrome
Abnormal circulating lipid concentration, Leukopenia, Splenomegaly, Thrombocytopenia, Abnormality... ORPHA:381
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia, Intracranial hemorrhage ORPHA:85212
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Wilson Disease
Bruising susceptibility, Abnormality of the menstrual cycle, Splenomegaly, Thrombocytopenia, Anemia ORPHA:905
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Thrombocytopenia ORPHA:3320
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Leukocyt... ORPHA:94093
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Small scrotum, Clitoral hypertrophy, Decreased circulating dehydroepiandrosterone concentration, ... OMIM:201750
Anemia, Tachycardia, Leukocytosis, Thrombocytopenia ORPHA:3392
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Increased circulating ferritin concentration, Pancytopenia, Abnormal T cell sub... ORPHA:158048
Sepsis In Premature Infants
Hypotension, Abnormal bleeding, Leukocytosis, Splenomegaly, Bradycardia, Petechiae, Anemia, Neutr... ORPHA:90051
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Maturity-onset diabetes of the young, Elevated circulating creatinine conc... OMIM:137920
Aregenerative Anemia
Abnormal bleeding, Bruising susceptibility, Pancytopenia, Decreased proportion of CD4-positive he... ORPHA:101096
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Shock, Elevated circulating creatinine concentration, Hypocalcemia,... ORPHA:36234
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Cryptorchidism, Splenomegaly, Mitral regurgitation, ... OMIM:612541
Elevated circulating catecholamine level, Abnormal bleeding, Increased circulating ferritin conce... ORPHA:635
Chédiak-Higashi Syndrome
Gingival bleeding, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Neutropenia, Hypoproteinem... ORPHA:167
Shwachman-Diamond Syndrome
Aplastic anemia, Hypopituitarism, Pancytopenia, Increased serum bile acid concentration, Impaired... ORPHA:811
Lujo Hemorrhagic Fever
Hypotension, Shock, Lymphopenia, Leukopenia, Leukocytosis, Excessive bleeding after a venipunctur... ORPHA:319213
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Elevated circulating creatine kinase ... OMIM:610377
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia, Pericarditis OMIM:152700
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Transient ischemic att... ORPHA:464343
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased circulating iron concentration, Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, ... OMIM:616959
Lysinuric Protein Intolerance
Hemophagocytosis, Increased LDL cholesterol concentration, Hepatosplenomegaly, Hyperglycinemia, D... ORPHA:470
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia, Increased circulating ferritin concentration ORPHA:3240
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Cystathioninemia, Elevated circulating propionylcarnitine concentration, Pancytopenia, Megaloblas... OMIM:277380
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Hypocalcemia, Neutropenia ORPHA:47
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormal vagina morphology, Thrombocytopenia, Neutropenia, Anemia, S... ORPHA:537
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Cr... OMIM:617052
Paroxysmal Nocturnal Hemoglobinuria
Decreased circulating iron concentration, Pulmonary embolism, Budd-Chiari syndrome, Pancytopenia,... ORPHA:447
Vexas Syndrome
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Arteritis, Macrocytic an... OMIM:301054
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Absent gallbladder, Cryptorchidism, Hypocalcemia, Anemia, Thrombocytopenia, M... ORPHA:163979
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Decreased mean platelet volume, Vasculitis, Hematochezia, Lymphocytosis, Thrombocytopenia, Vascul... OMIM:617718
Limb-Mammary Syndrome
Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the uterus, Hypoplastic nipples, ... ORPHA:69085
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia ORPHA:79242
Fanconi Anemia, Complementation Group D2
Annular pancreas, Leukemia, Bruising susceptibility, Pancytopenia, Cryptorchidism, Anemia, Reticu... OMIM:227646
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentration, Hyp... OMIM:619743
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Mucopolysaccharidosis-Plus Syndrome
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Leukopenia, Splenomegaly,... OMIM:617303
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Cryptorchidism, Thrombocytopenia, Anemia, Hypospadias OMIM:611209
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chro... ORPHA:98849
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Hyperphosphatemia, Subconjunctival hemorrhage, Shock, Elevated circulatin... ORPHA:340
Boutonneuse Fever
Vasculitis, Leukopenia, Petechiae, Thrombocytopenia ORPHA:83313
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Petechiae, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia, Purpura OMIM:605432
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Abnormal bleeding, Conjugated hyperbilirubinemia, Nephrogenic diabetes insipidus, Thrombocytopenia OMIM:208085
Methylmalonic Aciduria, Cbla Type
Pancytopenia, Hyperglycinemia, Hyperammonemia, Neutropenia, Thrombocytopenia, Anemia, Methylmalon... OMIM:251100
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Splenomegaly, Autoimmune hemolytic anemia, Hypothyroidism... OMIM:614700
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Pulmonary hemorrhage, P... ORPHA:79124
Necrotizing Enterocolitis
Hypotension, Shock, Leukocytosis, Bradycardia, Hyponatremia, Thrombocytopenia, Neutropenia ORPHA:391673
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Hyperbilirubine... OMIM:557000
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Increased mean corpuscular volume, Mitral regurgitation, Cryptorchidism, ... ORPHA:261250
Yellow Fever
Abnormal bleeding, Pancreatic hyperplasia, Shock, Elevated circulating creatinine concentration, ... ORPHA:99829
Microcephaly 20, Primary, Autosomal Recessive
Vaginal atresia, Hypoplasia of the uterus OMIM:617914
Hyponatremia, Anemia, Thrombocytopenia ORPHA:79325
Prolidase Deficiency
Petechiae, Splenomegaly, Diffuse telangiectasia, Thrombocytopenia, Anemia OMIM:170100
Meckel Syndrome 12
Vaginal atresia, Hypoplasia of the uterus OMIM:616258
Dyskeratosis Congenita
Abnormal morphology of female internal genitalia, Splenomegaly, Displacement of the urethral meat... ORPHA:1775
Fanconi Anemia, Complementation Group F
Microphallus, Decreased response to growth hormone stimulation test, Leukopenia, Cryptorchidism, ... OMIM:603467
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Aicardi-Goutieres Syndrome 1
Vasculitis, Cardiomyopathy, Splenomegaly, Petechiae, Hypothyroidism, Thrombocytopenia, Diabetes i... OMIM:225750
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:301078
Meckel Syndrome 14
Tricuspid regurgitation, Aplasia of the uterus, Ambiguous genitalia, Mitral regurgitation OMIM:619879
Thrombocytopenia 1
Decreased mean platelet volume, Epistaxis, Bruising susceptibility, Petechiae, Congenital thrombo... OMIM:313900
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Takenouchi-Kosaki Syndrome
Cryptorchidism, Thrombocytopenia, Hypospadias, Pulmonic stenosis, Increased mean platelet volume OMIM:616737
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy, Thrombocytopenia OMIM:617710
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Abnormal bleeding, Lymphopenia, Leukopenia, Thrombocytopenia, Melena ORPHA:319218
Chediak-Higashi Syndrome
Hemophagocytosis, Bruising susceptibility, Leukopenia, Giant neutrophil granules, Splenomegaly, S... OMIM:214500
Autoinflammatory Disease, Systemic, With Vasculitis
Parotitis, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Increased T cell count, Purpura, Anemi... OMIM:620376
Osteopetrosis, Autosomal Recessive 1
Pancytopenia, Splenomegaly, Hypocalcemia, Thrombocytopenia, Anemia OMIM:259700
Hepatosplenomegaly, External genital hypoplasia, Hypothyroidism, Thrombocytopenia, Inappropriate ... ORPHA:79330
Thrombocytopenia 6
Abnormal bleeding, Thrombocytopenia, Spontaneous, recurrent epistaxis OMIM:616937
Thrombocytopenia 3
Decreased mean platelet volume, Epistaxis, Petechiae, Thrombocytopenia OMIM:273900
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Petechiae, Thrombocytopenia, Bradycardia OMIM:617397
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hypoalbuminemia, Hyperbilirubinemia, Portal hypertension, Splenomegaly, Thrombocytopenia, Elevate... OMIM:251880
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Leukocytosis, R... ORPHA:90038
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Zika Virus Disease
Subcutaneous hemorrhage, Thrombocytopenia ORPHA:448237
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Ventricular arrhythmia, Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Chronic Visceral Acid Sphingomyelinase Deficiency
Cholelithiasis, Abnormal bleeding, Abnormal circulating lipid concentration, Increased LDL choles... ORPHA:77293
Lysinuric Protein Intolerance
Intraalveolar phospholipid accumulation, Hemophagocytosis, Increased circulating ferritin concent... OMIM:222700
Fanconi Anemia
Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Hypertro... ORPHA:84
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Acute Radiation Syndrome
Hypotension, Abnormal bleeding, Lymphopenia, Telangiectasia, Thrombocytopenia, Granulocytopenia ORPHA:454831
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Elevated circulating thyroid-stimulating hormone concentration, Parotitis... OMIM:256040
Caroli Syndrome
Melena, Abnormal bleeding, Hypersplenism, Hyperbilirubinemia, Leukopenia, Leukocytosis, Portal hy... ORPHA:480520
Arteritis, Hypersplenism, Leukopenia, Leukocytosis, Splenomegaly, Transient ischemic attack, Orch... ORPHA:1304
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoparathyroidism, Hypoplastic spleen, Decreased re... ORPHA:699
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Clitoral hypertrophy, Histiocytoid cardiomyopathy, Ovotestis, Cho... OMIM:309801
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Hypotension, Cystathioninemia, Bradycardia, Hypomethioninemia, Pulmonary arterial hypertension, M... OMIM:277400
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia, Congestive heart failure OMIM:611126
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Pericarditis ORPHA:47612
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Hyperbilirubinemia, Hypocalcemia,... OMIM:259720
Deeah Syndrome
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased heart rate v... OMIM:619004
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Wiskott-Aldrich Syndrome
Decreased mean platelet volume, Gingival bleeding, Epistaxis, Decreased proportion of CD8-positiv... OMIM:301000
Oeis Complex
Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute... OMIM:258040
Proteasome-Associated Autoinflammatory Syndrome 3
Lymphopenia, Splenomegaly, Thrombocytopenia, Hypertriglyceridemia, Anemia OMIM:617591
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Tricuspid regurgitation, Lymphopenia, Leukopenia, Noncompaction cardiom... ORPHA:508542
Ivic Syndrome
Rectovaginal fistula, Leukocytosis, Thrombocytopenia OMIM:147750
Exstrophy-Epispadias Complex
Penoscrotal transposition, Male sexual dysfunction, Bifid scrotum, Female sexual dysfunction, Cys... ORPHA:322
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased heart rate variability, Cryptorchidism, Thrombocytopenia, Micropenis, Decreased hemoglo... OMIM:619005
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
3-Methylglutaconic Aciduria, Type Viib
Abnormal bleeding, Congestive heart failure, Leukopenia, Prolonged prothrombin time, Thrombocytop... OMIM:616271
Hellp Syndrome
Hypotension, Microangiopathic hemolytic anemia, Hemolytic anemia, Internal hemorrhage, Thrombocyt... ORPHA:244242
Aicardi-Goutieres Syndrome 7
Vasculitis, Hematochezia, Increased circulating ferritin concentration, Hypertrophic cardiomyopat... OMIM:615846
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Elevated circulating palmitoleylcarnitine concentration, Pulmonary emboli... ORPHA:79282
Pseudo-Torch Syndrome 1
Petechiae, Splenomegaly, Thrombocytopenia OMIM:251290
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypoalbuminemia, Congestive heart failure, Hypertrophic cardiomyopathy, Tricuspid regurgitation, ... ORPHA:505248
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Delayed puberty OMIM:615866
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Vitreous hemorr... OMIM:620185
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hyperechogenic pancreas, Thrombocytopenia, Neutropenia, Steatorrhea, Prolonged... OMIM:617941
Hypovolemic shock, Microangiopathic hemolytic anemia, Leukocytosis, Hyponatremia, Splenic abscess... ORPHA:810
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina OMIM:271520
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Dyspareunia, Thrombocytopenia, Anemia, Abnormality of neutrophils, S... ORPHA:36426
Castleman Disease
Restrictive cardiomyopathy, Anemia, Thrombocytopenia, Elevated circulating C-reactive protein con... ORPHA:160
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Leukopenia, Portal hypertension, Pulmonary arterial hypertension, Th... ORPHA:974
Dyskeratosis Congenita, Autosomal Dominant 2
Dilated cardiomyopathy, Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Popliteal Pterygium Syndrome
Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,... OMIM:119500
Primary Sjögren Syndrome
Normocytic anemia, Vasculitis, Thyroiditis, Arteritis, Parotitis, Lymphopenia, Leukopenia, Decrea... ORPHA:289390
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia, Elevated hepatic iron concentration OMIM:614946
Dubowitz Syndrome
Abnormal female external genitalia morphology, Cryptorchidism, Anemia, Thrombocytopenia, Hypopara... ORPHA:235
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Tricuspid regurgitation, Leukopenia, Splenomegaly, Hyperchol... OMIM:300972
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Abnormal reproductive system morphology, Bifid uterus, Supernumerary nipple ORPHA:1521
Immunodeficiency 87 And Autoimmunity
Dilated cardiomyopathy, Third degree atrioventricular block, Lymphopenia, Decreased CD4:CD8 ratio... OMIM:619573
Pediatric Systemic Lupus Erythematosus
Microangiopathic hemolytic anemia, Lymphopenia, Leukopenia, Raynaud phenomenon, Thrombocytopenia ORPHA:93552
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Down Syndrome
Polycythemia, Decreased fertility, Type II diabetes mellitus, Acute megakaryocytic leukemia, Dela... ORPHA:870
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Lymphopenia, Portal hypertension, Cryptorchidism, Pul... OMIM:620005
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Lymphopenia, Pancytopenia, Leukopenia, Thrombocytopenia, Reduced circulating growth hormone conce... OMIM:620654
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Congestive heart failure, Lymphopenia, Hepatosplenomegaly, Autoimmune h... ORPHA:391487
Holocarboxylase Synthetase Deficiency
Hyperammonemia, Thrombocytopenia OMIM:253270
Fanconi Anemia, Complementation Group L
Micropenis, Aplasia of the uterus, Anemia OMIM:614083
Jacobsen Syndrome
Annular pancreas, Cryptorchidism, Labial hypoplasia, Thrombocytopenia, Hypospadias, Clitoral hypo... OMIM:147791
Hypoplasia of penis, Abnormal platelet morphology, Thrombocytopenia, Anisopoikilocytosis ORPHA:46059
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Hyp... ORPHA:534
Congenital Erythropoietic Porphyria
Abnormal bleeding, Leukopenia, Erythroid hyperplasia, Abnormal circulating porphyrin concentratio... ORPHA:79277
Pontocerebellar Hypoplasia Type 7
Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am... ORPHA:284339
Liver Disease, Severe Congenital
Hyperbilirubinemia, Hypospadias, Hypoproteinemia, Systolic heart murmur, Hypocalcemia, Elevated h... OMIM:619991
Ehlers-Danlos Syndrome, Vascular Type
Diffuse alveolar hemorrhage, Uterine rupture, Bruising susceptibility, Arterial rupture, Cystocel... OMIM:130050
Myoectodermal Gonadal Dysgenesis Syndrome
Accessory spleen, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Hypoplastic... OMIM:618419
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Anemia, Acute myeloid leukemia, Neutropenia, Thrombocy... OMIM:260400
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Portal hypertension, Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Blue Rubber Bleb Nevus
Intestinal bleeding, Iron deficiency anemia, Thrombocytopenia OMIM:112200
22Q11.2 Deletion Syndrome
Hypertensive crisis, Cholelithiasis, Gastrointestinal hemorrhage, Abnormality of thrombocytes, Ab... ORPHA:567
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Petechiae, Neutropenia, Thrombocy... ORPHA:2330
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Hyperphosphatemia, Abnormal bleeding, Sinus tachycardia, Ab... ORPHA:466650
Good Syndrome
Thymoma, Aplasia/Hypoplasia of the thymus, Abnormal leukocyte morphology, Thrombocytopenia, Anemi... ORPHA:169105
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Leukopenia, Hypocalcemia, Elevated circulating creatine kinase concentration, Pulmo... ORPHA:2785
Cardiac-Urogenital Syndrome
Accessory spleen, Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Peno... OMIM:618280
Gaucher Disease, Perinatal Lethal
Hepatosplenomegaly, Splenomegaly, Petechiae, Thrombocytopenia, Anemia, Purpura OMIM:608013
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari syndrome, Lymphopenia, Leukopenia... OMIM:127550
Thrombocytopenia-Absent Radius Syndrome
Prolonged bleeding following circumcision, Hepatosplenomegaly, Leukocytosis, Aplasia of the uteru... OMIM:274000
Microphthalmia, Syndromic 9
Multilobulated spleen, Cryptorchidism, Hypoplasia of the uterus, Bicornuate uterus, Hypoplastic s... OMIM:601186
Idiopathic Hypereosinophilic Syndrome
Dilated cardiomyopathy, Pulmonary embolism, Congestive heart failure, Hepatosplenomegaly, Thrombo... ORPHA:3260
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia, Capillary leak, Pe... OMIM:615758
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Chromosome 17Q12 Deletion Syndrome
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus OMIM:614527
Ogden Syndrome
Polycythemia, Torsade de pointes, Decreased testicular size, Premature atrial contractions, Hyper... OMIM:300855
Phocomelia, Schinzel Type
Aplasia of the uterus, Hypoplasia of penis, Cryptorchidism ORPHA:2879
Gaucher Disease
Splenic infarction, Gingival bleeding, Cholelithiasis, Abnormal bleeding, Increased circulating f... ORPHA:355
Rift Valley Fever
Gingival bleeding, Abnormal bleeding, Retinal hemorrhage, Hematemesis, Thrombocytopenia, Melena, ... ORPHA:319251
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Cholelithiasis, Abnormality of the spleen, Azoospermia, Hepatosplenomegaly, Pancytopenia, Splenom... ORPHA:2072
Cornelia De Lange Syndrome 1
Hypoplastic male external genitalia, Cryptorchidism, Hypoplastic nipples, Hypoplastic labia major... OMIM:122470
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
Diabetes insipidus, Parotitis, Hemolytic anemia, Leukopenia, Enlargement of parotid gland, Portal... ORPHA:797
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Bcard Syndrome
Arterial rupture, Bruising susceptibility, Thrombocytopenia OMIM:612394
Wilson Disease
Hypouricemia, Hypoalbuminemia, Hemolytic anemia, Hyperbilirubinemia, Splenomegaly, Increased circ... OMIM:277900
21Q22.11Q22.12 Microdeletion Syndrome
Anemia, Hypoplastic nipples, Thrombocytopenia ORPHA:261323
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Kikuchi-Fujimoto Disease
Vasculitis, Leukopenia, Enlargement of parotid gland, Splenomegaly, Myocarditis, Anemia, Lymphocy... ORPHA:50918
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Digeorge Syndrome