Gene Summary

Meis homeobox 1

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
increased startle reflex Meis1tm1b(EUCOMM)Hmgu HET Early adult 4.20×10-05
hyperactivity Meis1tm1b(EUCOMM)Hmgu HET Early adult 8.53×10-06
increased bone mineral content Meis1tm1b(EUCOMM)Hmgu HET Early adult 2.08×10-05
preweaning lethality, complete penetrance Meis1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
decreased prepulse inhibition Meis1tm1b(EUCOMM)Hmgu HET   Early adult 1.65×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Cartilage tissue  Section images heterozygote 100% (2 of 2)
Esophagus  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 100% (2 of 2)
Large intestine  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Oviduct  Section images heterozygote 50% (1 of 2)
Pancreas  Section images heterozygote 100% (2 of 2)
Small intestine  Section images heterozygote 100% (2 of 2)
Stomach  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Trachea  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote Ambiguous
Uterus  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Kidney N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote Ambiguous
Dorsal root ganglion N/A homozygote Ambiguous
Ear N/A heterozygote 0.0% (0 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 100% (2 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
Fronto-nasal process N/A homozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 100% (2 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 100% (2 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 100% (2 of 2)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote Ambiguous
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 100% (2 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
Nose N/A homozygote Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
Spinal cord N/A homozygote Ambiguous
Tail somite N/A heterozygote 100% (2 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 100% (2 of 2)
Tail N/A homozygote Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.69% (4 of 583)
aorta 0.17% (1 of 593)
brain 0.86% (5 of 583)
brainstem 0.34% (2 of 594)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 593)
cerebellum 0.51% (3 of 587)
cerebral cortex 0.34% (2 of 594)
epididymis 13.67% (19 of 139)
esophagus 1.68% (7 of 416)
eye 0.0%
heart 0.34% (2 of 586)
hippocampus 0.51% (3 of 592)
hypothalamus 0.34% (2 of 586)
kidney 4.26% (25 of 587)
large intestine 5.25% (31 of 591)
liver 0.0%
lower urinary tract 0.17% (1 of 590)
lung 0.34% (2 of 591)
lymph node 0.17% (1 of 592)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 586)
ovary 0.17% (1 of 586)
oviduct 0.0%
pancreas 0.84% (5 of 592)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.22% (13 of 586)
skeletal muscle 0.0%
skin 0.17% (1 of 586)
small intestine 5.5% (32 of 582)
spinal cord 0.51% (3 of 588)
spleen 0.51% (3 of 589)
stomach 3.76% (22 of 585)
striatum 0.51% (3 of 589)
submandibular gland 1.39% (2 of 144)
testis 0.85% (5 of 589)
thalamus 0.0%
thymus 0.17% (1 of 589)
thyroid gland 3.05% (18 of 591)
trachea 0.51% (3 of 585)
urinary bladder 0.0%
uterus 0.34% (2 of 588)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
brain 1.21% (6 of 494)
dorsal root ganglion 1.75% (1 of 57)
ear 0.2% (1 of 494)
embryo 0.41% (2 of 493)
eye 0.2% (1 of 495)
footplate 0.2% (1 of 489)
forebrain 0.2% (1 of 489)
forelimb 0.2% (1 of 490)
fronto-nasal process 1.72% (1 of 58)
handplate 0.2% (1 of 489)
head 0.82% (4 of 488)
heart 0.2% (1 of 492)
hindbrain 1.22% (6 of 493)
hindlimb 0.21% (1 of 487)
liver 0.21% (1 of 486)
lung 0.21% (1 of 486)
mandibular process 0.2% (1 of 495)
maxillary process 0.2% (1 of 502)
midbrain 0.2% (1 of 489)
nose 1.35% (1 of 74)
oral cavity 0.2% (1 of 492)
skin 0.2% (1 of 495)
spinal cord 1.49% (1 of 67)
tail 0.2% (1 of 491)
tail somite group 0.2% (1 of 490)

Associated Images

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


XRay Images Forepaw

10 Images


XRay Images Skull Lateral Orientation

10 Images

Adult LacZ

LacZ Images Section

13 Images


XRay Images Whole Body Dorso Ventral

10 Images

Embryo LacZ

LacZ images wholemount

12 Images


XRay Images Skull Dorso Ventral Orientation

10 Images


XRay Images Whole Body Lateral Orientation

10 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Meis1 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 Meis1 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Retinitis Pigmentosa 81
Pallor OMIM:617871
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Splenomegaly, Persistence of hemoglobin F, Pallor, Anemia ORPHA:46532
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Retinitis Pigmentosa 60
Pallor OMIM:613983
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Pallor, Myocardial infarction, Ab... ORPHA:90064
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
Nanophthalmos 4
Microphthalmia OMIM:615972
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Immunodeficiency 8
Hyperactivity OMIM:615401
Acute Myelomonocytic Leukemia
Leukocytosis, Pallor, Eosinophilia, Anemia, Thrombocytopenia ORPHA:517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Decreased mean corpuscular volume, Hepatomegaly, Splenomegaly, Pallor, Poikilocytosi... OMIM:615234
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Anemia, Congenital Dyserythropoietic, Type Ib
Anemia of inadequate production, Hepatomegaly, Splenomegaly, Anemia, Anisocytosis, Pallor, Poikil... OMIM:615631
Acquired Idiopathic Sideroblastic Anemia
Anemia of inadequate production, Granulocytopenia, Neutropenia, Hepatomegaly, Leukocytosis, Splen... ORPHA:75564
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Pallor, Hemolytic anemia, Splenomegaly ORPHA:228312
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Anterior Segment Dysgenesis 8
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... OMIM:617319
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Pallor, Paroxysmal atrial tachycardia, Ventricular se... ORPHA:49827
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Optic Atrophy 9
Pallor OMIM:616289
Cholelithiasis, Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Pal... ORPHA:848
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Intellectual Developmental Disorder, Autosomal Dominant 69
Intention tremor, Attention deficit hyperactivity disorder OMIM:617863
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Evans Syndrome
Neutropenia in presence of anti-neutropil antibodies, Petechiae, Pallor, Epistaxis, Autoimmune th... ORPHA:1959
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect OMIM:614429
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract ORPHA:171844
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Hepatomegaly, Pallor, Pancytopenia, Thrombocytopenia, Jaundice OMIM:613839
Breath-Holding Spells
Pallor, Iron deficiency anemia OMIM:607578
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Thrombocytopenia, Hypertension OMIM:189800
Retinitis Pigmentosa 70
Pallor OMIM:615922
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Primary Myelofibrosis
Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Pallor, Hepato... ORPHA:824
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Hb Bart'S Hydrops Fetalis
Abnormal hemoglobin, Hepatomegaly, Splenomegaly, Pallor, Pericarditis, Anemia, Congestive heart f... ORPHA:163596
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the lens, Tetralogy of Fallot, Cataract ORPHA:1381
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, Thromb... OMIM:615285
Oculoauricular Syndrome
Microphakia, Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Macular hypoplasia, Ret... OMIM:612109
Peripheral Cone Dystrophy
Pallor OMIM:609021
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Thrombocytopenia, Cyclic
Cyclic neutropenia, Thrombocytopenia, Neutropenia OMIM:188020
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia ORPHA:231393
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Congenital Heart Defects, Multiple Types, 4
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Tetralogy of Fallot... OMIM:615779
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot OMIM:125520
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid... OMIM:133180
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Retinohepatoendocrinologic Syndrome
Pallor, Degenerative liver disease OMIM:268040
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Bleeding Disorder, Platelet-Type, 16
Petechiae, Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisoc... OMIM:187800
Hepatomegaly, Splenomegaly, Pallor, Leukopenia, Abnormal macrophage morphology, Elevated hepatic ... ORPHA:507
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Congenital Heart Defects, Multiple Types, 2
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... OMIM:614980
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Mmep Syndrome
Ventricular septal defect, Microphthalmia ORPHA:3434
Thrombocytopenia 7
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619130
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Decreased hemoglobin concentration, Cholecyst... OMIM:266200
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis OMIM:251750
Retinitis Pigmentosa 73
Pallor OMIM:616544
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Microphthalmia OMIM:615297
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... ORPHA:83461
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... OMIM:607941
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Spondylo-Ocular Syndrome
Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular septal defect, Iris hypopigmentat... ORPHA:85194
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Splenomegaly, Cirrhosis, Elevated circulating aspartate aminotransferase ... OMIM:269600
Polycythemia Vera
Budd-Chiari syndrome, Increased hematocrit, Leukocytosis, Splenomegaly, Cerebral hemorrhage, Cere... OMIM:263300
Beta-Thalassemia Intermedia
Cholelithiasis, Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly,... ORPHA:231222
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Microphthalmia ORPHA:35612
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation... OMIM:173590
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Epistaxis, Splenomegaly ORPHA:721
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
+173470 integrin, beta-3
Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune thrombocytopenia, Intracranial hemo... OMIM:173470
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Bernard-Soulier Syndrome
Impaired ristocetin-induced platelet aggregation, Purpura, Macrothrombocytopenia, Giant platelets... OMIM:231200
Thrombocytopenia 5
Petechiae, Neutropenia, Anemia, Thrombocytopenia, Epistaxis OMIM:616216
Portal Hypertension, Noncirrhotic, 2
Petechiae, Hepatomegaly, Splenomegaly, Hepatocellular carcinoma, Nodular regenerative hyperplasia... OMIM:619463
Bleeding Disorder, Platelet-Type, 15
Increased mean platelet volume, Thrombocytopenia, Epistaxis, Platelet anisocytosis OMIM:615193
Roch-Leri Mesosomatous Lipomatosis
Purpura, Thrombocytopenia ORPHA:529
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Hepatomegaly, Splenomegaly, Pallor, Increased red cell hemolysis by shear stress,... OMIM:194380
Autoimmune Hemolytic Anemia
Abnormal leukocyte morphology, Splenomegaly, Pallor, Arrhythmia, Hemolytic anemia, Congestive hea... ORPHA:98375
Dermatitis, Atopic
Pallor, Dry skin, Facial erythema OMIM:603165
Anemia, Sideroblastic, 1
Anemia of inadequate production, Anemic pallor, Hypochromic microcytic anemia, Macrocytic anemia,... OMIM:300751
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Myeloproliferative disorder, Intracranial hemor... ORPHA:3226
Hereditary Spherocytosis
Cholelithiasis, Hepatomegaly, Spherocytosis, Splenomegaly, Extramedullary hematopoiesis, Anemia, ... ORPHA:822
Elliptocytosis 1
Splenomegaly, Pallor, Hemolytic anemia, Elliptocytosis, Jaundice OMIM:611804
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Stuve-Wiedemann Syndrome 2
Neonatal death, Thrombocytopenia, Pulmonary arterial hypertension, Stillbirth, Congestive heart f... OMIM:619751
Xk Aprosencephaly Syndrome
Ventricular septal defect, Atrial septal defect, Microphthalmia ORPHA:3469
Retinitis Pigmentosa 27
Pallor OMIM:613750
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Pallor, Tachycardia, Autoimmune hemolytic anemia, Congestive heart failure ORPHA:90037
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Giant platelet syndrome with thrombocytopenia
Gastrointestinal hemorrhage, Thrombocytopenia, Giant platelets OMIM:137560
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... OMIM:155100
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Angina pectori... ORPHA:3092
Eosinophilia, Familial
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis OMIM:131400
Immune Thrombocytopenia
Petechiae, Cerebral hemorrhage, Purpura, Gastrointestinal hemorrhage, Thrombocytopenia, Epistaxis ORPHA:3002
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Congestive heart failure ORPHA:141179
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Excessive skin wrinkling on dorsum of hands and fingers, Bilateral microphthalmos OMIM:608763
Thrombocytopenia With Beta-Thalassemia, X-Linked
Petechiae, Splenomegaly, Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Epistaxis OMIM:314050
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot OMIM:601348
Optic Atrophy 1
Pallor OMIM:165500
Congenital Dyserythropoietic Anemia Type Iii
Increased mean corpuscular volume, Melena, Pallor, Anisocytosis, Poikilocytosis, Elevated hepatic... ORPHA:98870
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... ORPHA:276556
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, F... ORPHA:276575
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Aortic valve stenosis, Pulmonic stenosis, Ectopia le... OMIM:614819
Refractory Anemia
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Abno... ORPHA:98826
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pallor, Pappenheimer bodies, Microcytic anemia, Sideroblastic anemia, Erythro... OMIM:600462
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Transaldolase Deficiency
Anemia, Cirrhosis, Hepatosplenomegaly, Premature skin wrinkling, Telangiectasia, Thrombocytopenia ORPHA:101028
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Histiocytoid Cardiomyopathy
Hepatomegaly, Megalocornea, Ventricular septal defect, Optic atrophy, Right bundle branch block, ... ORPHA:137675
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia, Hypertrophic cardiomyopathy ORPHA:295
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Splenomegaly, Heinz bodies, Anisocytosis, Pallor, Poikilocytosis, Fava bean-induced... OMIM:300908
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Arrhythmia, Thrombocytopenia, Hypertension, Sideroblastic anemia OMIM:617021
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect, Patent foramen ovale, M... OMIM:618652
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Cold Agglutinin Disease
Hemolytic anemia, Pallor, Hepatomegaly, Splenomegaly ORPHA:56425
Letterer-Siwe Disease
Pallor, Hepatosplenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:246400
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Pallor, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, T... ORPHA:35858
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Hemolytic anemia, Reticulocytosis OMIM:611590
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Thrombocytopenia, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Diffuse pancreatic islet hyperplasia, Pallor, Palpitations, Tachycardia, Syncope, H... ORPHA:276580
Autoimmune Hemolytic Anemia, Warm Type
Splenomegaly, Pallor, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolytic anemia, Jaund... ORPHA:90033
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hemophagocytosis, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Jaundice OMIM:603552
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Hypertension, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Fanconi Anemia, Complementation Group G
Neutropenia, Microphthalmia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Aicardi-Goutieres Syndrome 3
Elevated hepatic transaminase, Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Megabladder, Congenital
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, ... OMIM:618719
Anterior Segment Dysgenesis 2
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... OMIM:610256
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Hepatomegaly, Splenomegaly, Bone-marrow foam cells, Anemia, Thrombocytopenia OMIM:607616
Bleeding Disorder, Platelet-Type, 24
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... OMIM:619271
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, High-output congestive heart failure, Splenomegaly, Extramedul... ORPHA:231226
Hepatomegaly, Splenomegaly, Hepatic failure, Leukopenia, Hemolytic anemia, Myocardial infarction,... ORPHA:108
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia, Impaired platelet aggregation, Macrothrombocytopenia OMIM:124900
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Bleeding Disorder, Platelet-Type, 19
Anemia, Epistaxis, Macrothrombocytopenia OMIM:616176
Nail-Patella Syndrome
Microphakia, Nephrotic syndrome, Antecubital pterygium, Hematuria, Microcornea, Keratoconus, Cata... OMIM:161200
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Kniest Dysplasia
Degenerative vitreoretinopathy, Lens luxation, Rhegmatogenous retinal detachment, Retinal detachm... ORPHA:485
Spontaneous Periodic Hypothermia
Pallor, Arrhythmia ORPHA:29822
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Anisopoikilocyt... ORPHA:231214
Cernunnos-Xlf Deficiency
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia ORPHA:169079
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Decreased mean corpuscular volume, Pallor, Hepatosplenomegaly, Anisopoikilocytosis, Elevated hepa... ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatomegaly, Pallor, Eosinophilia, Hepatosplenomegaly, Abnor... ORPHA:331206
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Splenomegaly, Anemia, Thrombocytopenia, Hypersplenism OMIM:610539
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Hypoplasia of right ventricle... ORPHA:1209
Systemic Mastocytosis With Associated Hematologic Neoplasm
Abnormal mast cell morphology, Neutrophilia, Leukocytosis, Splenomegaly, Hepatomegaly, Myeloproli... ORPHA:98849
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Pallor, Hepatosplenomegaly, Heart murmur, Iron deficiency anemia, Diffuse alveolar ... ORPHA:99931
Neonatal Lupus Erythematosus
Neutropenia, Hepatomegaly, Atrioventricular block, Splenomegaly, Hepatic failure, Aplastic anemia... ORPHA:398124
Osteopetrosis, Autosomal Recessive 4
Petechiae, Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia OMIM:611490
Idiopathic Aplastic Anemia
Retinal hemorrhage, Pancytopenia, Ecchymosis, Neutropenia, Anemia, Thrombocytopenia, Epistaxis, R... ORPHA:88
Rheumatic Fever
Abnormal mitral valve morphology, Pallor, Endocarditis, Abnormal aortic valve morphology, Myocard... ORPHA:3099
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor, Tachycardia ORPHA:276608
Pallor, Myeloproliferative disorder, Purpura, Splenomegaly OMIM:254450
Combined Oxidative Phosphorylation Deficiency 15
Ventricular septal defect, Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy OMIM:614947
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Anemia of inadequate production, Petechiae, Congenital thrombocytopenia, Acanthocytosis, Poikiloc... OMIM:300367
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Pallor, Palpitations, Tachycardia, Syncope ORPHA:324575
Fetal Gaucher Disease
Hepatomegaly, Splenomegaly, Intracranial hemorrhage, Abnormality of the spleen, Neonatal death, P... ORPHA:85212
Bleeding Disorder, Platelet-Type, 17
Impaired collagen-induced platelet aggregation, Petechiae, Impaired epinephrine-induced platelet ... OMIM:187900
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Pallor, Arrhythmia, Myocarditis, Cardiomyopathy, Congestive heart fai... ORPHA:3386
Fanconi Anemia, Complementation Group I
Neutropenia, Atrial septal defect, Pallor, Optic nerve hypoplasia, Ventricular septal defect, Pat... OMIM:609053
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Anemia, Sideroblastic, 5
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia OMIM:619523
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Perimembranous ve... OMIM:618782
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Acquired Purpura Fulminans
Hepatic failure, Intracranial hemorrhage, Macular purpura, Shock, Internal hemorrhage, Thrombocyt... ORPHA:49566
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Abnormality of the hepatic vasculature, Elevated systolic blood pressure, Elevated hepatic transa... ORPHA:275555
Refractory Anemia With Excess Blasts
Anemia of inadequate production, Leukocytosis, Palpitations, Anemic pallor, Abnormal mean corpusc... ORPHA:86839
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:249670
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Encephalopathy, Progressive, With Or Without Lipodystrophy
Tremor, Hyperactivity, Dystonia OMIM:615924
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... OMIM:619041
Systemic Lupus Erythematosus 17
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... OMIM:301080
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia OMIM:120433
Osteopetrosis, Autosomal Recessive 8
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:615085
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia OMIM:141000
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Intrahepatic portal vein sclerosis, Abnormality of the hepa... ORPHA:64743
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia, Cardiomyopathy ORPHA:67048
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Cardiac shunt, Anomalous p... ORPHA:860
Aregenerative Anemia
Abnormal proportion of CD8-positive T cells, Neutropenia, Pallor, Erythroid hypoplasia, Decreased... ORPHA:101096
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity OMIM:618090
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Scaling skin, Dry skin OMIM:612952
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Sepsis In Premature Infants
Decreased liver function, Petechiae, Hepatomegaly, Leukocytosis, Splenomegaly, Pallor, Tachycardi... ORPHA:90051
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Abnormal tricuspid valve morphology,... ORPHA:1354
Dengue Fever
Petechiae, Hepatomegaly, Cerebral hemorrhage, Leukopenia, Hypotension, Gastrointestinal hemorrhag... ORPHA:99828
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Spinal Muscular Atrophy, Type I
Ventricular septal defect, Atrial septal defect OMIM:253300
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Microphthalmia, Syndromic 8
Premature skin wrinkling, Microphthalmia OMIM:601349
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Rhabdoid Tumor
Neoplasm of the liver, Internal hemorrhage, Hypertension, Anemia, Thrombocytopenia ORPHA:69077
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Ataxia-Pancytopenia Syndrome
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... OMIM:159550
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Splenomegaly, Hepatosplenomegaly, Elevated hepatic transaminase, Pancytopenia, Thro... OMIM:610333
Fanconi Anemia, Complementation Group T
Anemia, Thrombocytopenia, Pancytopenia OMIM:616435
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Bone Marrow Failure Syndrome 4
Anemia, Thrombocytopenia, Dry skin, Leukopenia OMIM:618116
Pulmonary hemorrhage, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules ORPHA:238459
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Periportal fibrosis, Splenomegaly, Hepatic failure, Cirrhosis, Hepatosplenomegaly, ... OMIM:278000
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:614727
Anemia, Thrombocytopenia ORPHA:673
Hereditary Folate Malabsorption
Megaloblastic anemia, Pallor, Eosinophilia, Pancytopenia, Thrombocytopenia ORPHA:90045
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Triokinase And Fmn Cyclase Deficiency Syndrome
Reduced systolic function, Dilated cardiomyopathy, Microcytic anemia, Microphthalmia OMIM:618805
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Hepatomegaly, Coombs-positive hemolytic ane... OMIM:603909
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Ventricular septal defect, Atrial septal defect OMIM:614249
Waldenström Macroglobulinemia
Hepatomegaly, Splenomegaly, Pallor, Normocytic anemia, Retinal hemorrhage, Vasculitis, Abnormalit... ORPHA:33226
Thrombotic Thrombocytopenic Purpura
Arrhythmia, Myocardial infarction, Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocyt... ORPHA:54057
Myh9-Related Disease
Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platelet volume, Elevate... ORPHA:182050
Congenital Rubella Syndrome
Atrial septal defect, Splenomegaly, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Mi... ORPHA:290
Folate Malabsorption, Hereditary
Leukopenia, Thrombocytopenia, Folate-responsive megaloblastic anemia, Neutropenia OMIM:229050
Congenital Toxoplasmosis
Hepatomegaly, Elevated hepatic transaminase, Anemia, Thrombocytopenia, Jaundice ORPHA:858
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Vitamin B12-Unresponsive Methylmalonic Acidemia
Pancreatitis, Hepatomegaly, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:27
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Exocrine pancreatic insufficiency, Neutropenia, Sideroblastic anemia, Hepatom... OMIM:557000
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Lymphoproliferative Syndrome, X-Linked, 1
Neutropenia, Hepatomegaly, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepatic failure, Fulmin... OMIM:308240
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Hepatosplenomegaly, Nodular regenerative hyperplasia of l... ORPHA:210136
Indomethacin Embryofetopathy
Ventricular septal defect, Atrial septal defect, Cardiomyopathy ORPHA:1909
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly, Thrombocytopenia ORPHA:158029
Snakebite Envenomation
Intracranial hemorrhage, Tachycardia, Erythema, Cardiogenic shock, Hypotension, Cerebral ischemia... ORPHA:449285
Retinitis Pigmentosa 75
Pallor OMIM:617023
Gaucher Disease, Type I
Hepatomegaly, Aortic valve stenosis, Splenomegaly, Mitral regurgitation, Pulmonary arterial hyper... OMIM:230800
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Pancreatitis, Hepatomegaly, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Cardiomyopathy ORPHA:79312
Irida Syndrome
Pallor ORPHA:209981
Thrombocytopenia 3
Thrombocytopenia, Epistaxis, Decreased mean platelet volume, Petechiae OMIM:273900
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor, Anemia, Hepatomegaly OMIM:246450
Chronic Myeloid Leukemia
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... ORPHA:521
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Tremor, Choreoathetosis, Hyperactivity, Dystonia OMIM:612716
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:613101
Atrial Septal Defect 1
Bicuspid aortic valve, Aortic valve stenosis, Secundum atrial septal defect, Atrial septal defect... OMIM:108800
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
Quebec Platelet Disorder
Joint hemorrhage, Thrombocytopenia, Epistaxis, Impaired epinephrine-induced platelet aggregation OMIM:601709
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... OMIM:601399
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventricular septal defect, Leukemia, Microphthalmia OMIM:602501
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Fetal And Neonatal Alloimmune Thrombocytopenia
Melena, Petechiae, Neonatal alloimmune thrombocytopenia, Intracranial hemorrhage, Subarachnoid he... ORPHA:853
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617113
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Retinitis Pigmentosa 51
Pallor OMIM:613464
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia, Hepatomegaly ORPHA:2123
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Ventricular septal defect, Howell-Jolly bodies OMIM:613759
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Gaucher Disease, Type Iii
Thrombocytopenia, Hepatomegaly, Splenomegaly, Pancytopenia OMIM:231000
Microcephaly-Cardiomyopathy Syndrome
Ventricular septal defect, Dilated cardiomyopathy ORPHA:2515
Diamond-Blackfan Anemia 12
Macrocytic anemia, Ventricular septal defect, Normochromic anemia, Reticulocytopenia, Elevated re... OMIM:615550
Transcobalamin Deficiency
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia ORPHA:859
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... OMIM:613854
Retinitis Pigmentosa And Erythrocytic Microcytosis
Decreased mean corpuscular volume, Pallor, Anisocytosis, Poikilocytosis, Elliptocytosis, Anemia OMIM:616959
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Ventricular Septal Defect 3
Ventricular septal defect, Atrial septal defect OMIM:614432
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Leukocytosis, Pallor, Leukopenia... ORPHA:20
Tufted Angioma
Purpura, Anemia, Thrombocytopenia, Petechiae ORPHA:1063
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Neutropenia, Hemophagocytosis, Splenomegaly, Hepatic failure, Hepatosplenomegaly, Hepatocellular ... ORPHA:158057
Otodental Syndrome
Retinal coloboma, Microcornea, Iris coloboma, Cataract, Microphthalmia, Lens coloboma ORPHA:2791
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect OMIM:614262
Wt Limb-Blood Syndrome
Hypoplastic anemia, Thrombocytopenia, Leukemia, Pancytopenia OMIM:194350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Hepatomegaly, Micronodular cirrhosis, Periportal fibrosis, Hepatic failu... OMIM:251880
Prolidase Deficiency
Petechiae, Hepatomegaly, Diffuse telangiectasia, Splenomegaly, Elevated circulating aspartate ami... OMIM:170100
Hypotonia, Infantile, With Psychomotor Retardation
Ventricular septal defect OMIM:616816
Aggressive Systemic Mastocytosis
Decreased liver function, Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenom... ORPHA:98850
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Atrial septal defect, Arrhythmia, Ventricular septal defect, Situs inversus... OMIM:249270
Catel-Manzke Syndrome
Ventricular septal defect, Atrial septal defect ORPHA:1388
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, B lymphocytopenia, Intermittent thrombocytopenia, Neutropenia, Abnormal CD4:CD8 rat... OMIM:150550
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Macrothrombocytopenia, Neutropenia, Thrombocytopenia,... OMIM:603585
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Pulmonic stenosis, Renal hypoplasia, Patent foramen ovale, Microphthalmia, Lens coloboma OMIM:618914
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Pancreatitis, Hepatomegaly, Neutropenia, Anemia, Thrombocytopenia ORPHA:289916
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly OMIM:617441
Gaucher Disease, Type Ii
Anemia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:230900
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Autoinflammation With Infantile Enterocolitis
Splenomegaly, Diffuse alveolar hemorrhage, Pancytopenia, Anemia, Thrombocytopenia, Reduced natura... OMIM:616050
Wilson Disease
Hepatomegaly, Acute hepatitis, Splenomegaly, Acute hepatic failure, Cirrhosis, Hepatic steatosis,... ORPHA:905
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Seckel Syndrome 2
Heart murmur, Microphthalmia OMIM:606744
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Atrioventricular block, Left bundle branch block, Myofiber disarray, Co... OMIM:115197
Isolated Agammaglobulinemia
Abnormal lymphocyte morphology, Abnormality of neutrophils, Skin ulcer, Anemia, Thrombocytopenia ORPHA:229717
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Isovaleric Acidemia
Leukopenia, Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia OMIM:243500
8P23.1 Duplication Syndrome
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot ORPHA:251076
Aortic Valve Disease 1
Mitral stenosis, Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Mit... OMIM:109730
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Pulmonary emb... ORPHA:464343
Relapsing Fever
Neutrophilia, Leukocytosis, Leukopenia, Tachycardia, Epistaxis, Hypotension, Elevated hepatic tra... ORPHA:91547
Idiopathic Hypereosinophilic Syndrome
Supraventricular arrhythmia, Pancreatitis, Neutrophilia, Vasculitis in the skin, Portal fibrosis,... ORPHA:3260
Beta-Ketothiolase Deficiency
Hepatomegaly, Leukocytosis, Pallor, Hypotension, Thrombocytosis, Hypertension ORPHA:134
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Atrial septal defect, Persistence of hemoglobin F, Mitral regu... OMIM:612561
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Hyperinsulinism Due To Hnf4A Deficiency
Hepatomegaly, Increased hepatic glycogen content, Pallor, Tachycardia, Elevated hepatic transamin... ORPHA:263455
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Transaldolase Deficiency
Telangiectasia, Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Splenomegaly, Cir... OMIM:606003
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Dystonia, Athetosis ORPHA:382
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia OMIM:616738
Gray Platelet Syndrome
Impaired collagen-induced platelet aggregation, Splenomegaly, Abnormal number of alpha granules, ... OMIM:139090
Wolfram Syndrome, Mitochondrial Form
Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia OMIM:598500
Pierpont Syndrome
Excessive wrinkling of palmar skin, Microphthalmia ORPHA:487825
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal hemorrhage, Mi... ORPHA:335
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Hemophagocytosis, Acute hepatic failure, Hepatosplenomegaly, Monocyto... OMIM:619644
Lymphoproliferative Syndrome 1
Hepatomegaly, Splenomegaly, Leukopenia, Autoimmune thrombocytopenia, Decreased proportion of CD4-... OMIM:613011
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Omenn Syndrome
Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B lymphocytopenia, B l... OMIM:603554
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Supravalvular aortic stenosis OMIM:618624
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Ventricular septal defect, Tetralogy of Fallot OMIM:617992
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Microphthalmia, Arrhythmia, Membranous subvalvular aortic stenosis ORPHA:3191
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Right Atrial Isomerism
Atrial septal defect, Pulmonic stenosis, Single ventricle, Right atrial isomerism, Tetralogy of F... OMIM:208530
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Ventricular septal defect, Atrial septal defect OMIM:608227
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect, Microphthalmia ORPHA:93267
Acute Promyelocytic Leukemia
Petechiae, Leukocytosis, Diffuse alveolar hemorrhage, Leukopenia, Pancytopenia, Purpura, Ecchymos... ORPHA:520
Weill-Marchesani Syndrome 1
Microspherophakia, Aortic valve stenosis, Shallow anterior chamber, Pulmonic stenosis, Mitral reg... OMIM:277600
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Fumarase Deficiency
Polycythemia, Pallor, Cholestasis, Hepatic failure OMIM:606812
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypertrophic cardiomyopathy, Elevated hepatic ... OMIM:611126
Isolated Optic Nerve Hypoplasia/Aplasia
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... ORPHA:137902
Cofs Syndrome
Microphthalmia ORPHA:1466
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Fechtner syndrome
Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Neonatal death, Cholestasis, Anemia, Thrombocytopenia OMIM:608104
Caroli Syndrome
Melena, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Leukocytosis, Hepatic failure, Hematemesi... ORPHA:480520
Plummer-Vinson Syndrome
Pallor, Hypochromic microcytic anemia, Iron deficiency anemia ORPHA:54028
Hyperekplexia 3
Exaggerated startle response OMIM:614618
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Thrombocytopenia, Lymphopenia OMIM:616744
Familial Hemophagocytic Lymphohistiocytosis
Decreased liver function, Cholestatic liver disease, Hepatomegaly, Petechiae, Hemophagocytosis, S... ORPHA:540
Intellectual Developmental Disorder, Autosomal Dominant 67
Attention deficit hyperactivity disorder, Hyperactivity OMIM:619927