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
decreased prepulse inhibition Meis1tm1b(EUCOMM)Hmgu HET   Early adult 1.50×10-05
increased startle reflex Meis1tm1b(EUCOMM)Hmgu HET   Early adult 3.45×10-06
increased bone mineral content Meis1tm1b(EUCOMM)Hmgu HET Early adult 2.55×10-05
preweaning lethality, complete penetrance Meis1tm1b(EUCOMM)Hmgu HOM   Early adult 0.00
hyperactivity Meis1tm1b(EUCOMM)Hmgu HET Early adult 3.77×10-05
increased grip strength Meis1tm1b(EUCOMM)Hmgu HET   Early adult 7.64×10-05

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 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
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 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

Adult LacZ

LacZ Images Section

13 Images

Embryo LacZ

LacZ images wholemount

12 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
Nanophthalmos 2
Microphthalmia OMIM:609549
Retinitis Pigmentosa 42
Pallor OMIM:612943
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Hepatomegaly, Anemia, Splenomegaly, Pallor ORPHA:46532
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Mental Retardation, Autosomal Dominant 45
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617600
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Retinitis Pigmentosa 60
Pallor OMIM:613983
Atrial Septal Defect 2
Atrioventricular canal defect, Atrial septal defect, Ventricular septal defect OMIM:607941
Acute Peripheral Arterial Occlusion
Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,... ORPHA:90064
Mental Retardation, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia OMIM:614497
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Gombo Syndrome
Microphthalmia, Abnormal heart morphology OMIM:233270
Nanophthalmos 4
Microphthalmia OMIM:615972
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Mental Retardation, Autosomal Recessive 3
Hyperactivity OMIM:608443
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Anemia, Pallor, Eosinophilia ORPHA:517
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypochromia, Hepatomegaly, Anemia, Splenomegaly, Decreased mean corpuscular volume, Pallor, Poiki... OMIM:615234
Microphthalmia, Isolated, With Cataract 1
Microphthalmia OMIM:156850
Anemia, Congenital Dyserythropoietic, Type Ib
Reticulocytosis, Erythroid hyperplasia, Hepatomegaly, Anisocytosis, Jaundice, Splenomegaly, Anemi... OMIM:615631
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Microphthalmia, Isolated, With Coloboma 6
Optic disc hypoplasia, Hypoplasia of the fovea, Bilateral microphthalmos OMIM:613703
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Immunodeficiency 8
Hyperactivity OMIM:615401
Autoimmune Hemolytic Anemia, Cold Type
Abnormal leukocyte morphology, Hemolytic anemia, Pallor, Splenomegaly ORPHA:228312
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Micro... OMIM:612109
Thiamine-Responsive Megaloblastic Anemia Syndrome
Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Megaloblastic ane... ORPHA:49827
Optic Atrophy 9
Pallor OMIM:616289
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Microcytic anemia, Cholelithiasis, Thrombocytopenia, Hepatomegaly, Hepatitis, Anemia, Splenomegal... ORPHA:848
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Ventricular Septal Defect 1
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614429
Thrombocytopenia 4
Thrombocytopenia OMIM:612004
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia OMIM:616335
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia OMIM:251505
Evans Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Epistaxis, Neutropenia in presence of a... ORPHA:1959
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Microphakia, Cataract, Retinal detachment, Lens subluxation ORPHA:171844
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Thrombocytopenia, Jaundice, Pancytopenia, Hepatomegaly, Pallor OMIM:613839
Preeclampsia/Eclampsia 1
Thrombocytopenia, Elevated hepatic transaminase, Hypertension OMIM:189800
Breath-Holding Spells
Iron deficiency anemia, Pallor OMIM:607578
Thrombocytopenia 2
Thrombocytopenia OMIM:188000
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Thrombocytopenia, Hepatosplenomegaly, Anemia OMIM:610539
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Thrombocytopenia OMIM:124900
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Hepatomegaly, Leukopenia, Splenomega... OMIM:615285
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia OMIM:615771
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Hypoplasia of penis, Hypospadias, Tetralogy of Fallot, Aplasia/Hypoplasia of the lens ORPHA:1381
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Microspherophakia, Lens subluxation, Lens coloboma OMIM:157151
Peripheral Cone Dystrophy
Pallor OMIM:609021
Retinitis Pigmentosa 70
Pallor OMIM:615922
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia, Hypertension OMIM:166990
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Hb Bart'S Hydrops Fetalis
Pericarditis, Hepatomegaly, Congestive heart failure, Anemia, Splenomegaly, Abnormal hemoglobin, ... ORPHA:163596
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
X-Linked Sideroblastic Anemia
Pallor, Elevated hepatic transaminase, Anemia, Splenomegaly ORPHA:75563
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Splenomegaly, Anemia, Abnormal platelet function, Abnormal hemoglobin ORPHA:231393
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Primary Myelofibrosis
Ecchymosis, Thrombocytosis, Purpura, Leukocytosis, Extramedullary hematopoiesis, Pancytopenia, Th... ORPHA:824
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Abnormality of the liver, Hepatomegaly ORPHA:1980
Developmental And Epileptic Encephalopathy 43
Ataxia, Hyperactivity OMIM:617113
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal ... OMIM:615779
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con... OMIM:604169
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Cayler Cardiofacial Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Bleeding Disorder, Platelet-Type, 16
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia, Petechiae, Giant platelet... OMIM:187800
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity OMIM:309548
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Thrombocytopenia, Acute myeloid leukemia, Hepatomegaly, Anemia, Splenomega... OMIM:133180
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Mental Retardation, Autosomal Dominant 52
Hyperactivity OMIM:617796
Retinohepatoendocrinologic Syndrome
Degenerative liver disease, Pallor OMIM:268040
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired ADP-induced platelet aggregation, Impaired collagen-ind... OMIM:619130
Mmep Syndrome
Microphthalmia, Ventricular septal defect ORPHA:3434
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
Congenital Heart Defects, Multiple Types, 2
Abnormal left ventricular outflow tract morphology, Subvalvular aortic stenosis, Aortic regurgita... OMIM:614980
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Atrial fibrillation, Aortic valve stenosis, Doub... OMIM:617912
Elevated hepatic transaminase, Abnormal macrophage morphology, Pancytopenia, Thrombocytopenia, He... ORPHA:507
Sea-Blue Histiocyte Disease
Thrombocytopenia, Cirrhosis, Sea-blue histiocytosis, Splenomegaly OMIM:269600
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia OMIM:610092
Mental Retardation, Autosomal Dominant 33
Hyperactivity OMIM:616311
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly
Inability to walk, Hyperactivity OMIM:616657
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Polycythemia Vera
Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd... OMIM:263300
Spondylo-Ocular Syndrome
Iris hypopigmentation, Ventricular septal defect, Cataract, Microphthalmia, Retinal detachment, A... ORPHA:85194
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Pancytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Beta-Thalassemia Intermedia
Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai... ORPHA:231222
Retinitis Pigmentosa 73
Pallor OMIM:616544
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Dysmetria, Hyperactivity OMIM:618090
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas... ORPHA:83461
Mental Retardation, Autosomal Recessive 37
Hyperactivity OMIM:615493
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Epi... OMIM:173590
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Gray Platelet Syndrome
Thrombocytopenia, Abnormal thrombocyte morphology, Epistaxis, Splenomegaly ORPHA:721
Microphthalmia, Isolated 4
Microphthalmia OMIM:613094
+173470 integrin, beta-3
Impaired platelet aggregation, Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Epi... OMIM:173470
Cataract 11, Multiple Types
Microphthalmia OMIM:610623
Thrombocytopenia 5
Neutropenia, Epistaxis, Thrombocytopenia, Petechiae, Anemia OMIM:616216
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Epistaxis, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
Macrothrombocytopenia OMIM:613112
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia, Purpura ORPHA:529
Microphthalmia ORPHA:35612
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity ORPHA:356996
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Increased red cell hemolysi... OMIM:194380
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrocardia, Ectopia of the spleen, Ventricular septal defect OMIM:613751
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Intracranial hemorrhage, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil count,... ORPHA:3226
Autoimmune Hemolytic Anemia
Arrhythmia, Hemolytic anemia, Congestive heart failure, Splenomegaly, Abnormal leukocyte morpholo... ORPHA:98375
Hereditary Spherocytosis
Increased mean corpuscular hemoglobin concentration, Reticulocytosis, Restrictive cardiomyopathy,... ORPHA:822
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Tetralogy of Fallot, Hypoplastic right heart, Ventricular septal defect OMIM:601348
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Elliptocytosis 1
Hemolytic anemia, Elliptocytosis, Jaundice, Splenomegaly, Pallor OMIM:611804
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Immune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Petechiae, Cerebral hemorrhage ORPHA:3002
Sebastian syndrome
Epistaxis, Thrombocytopenia, Leukocyte inclusion bodies, Giant platelets, Neutrophil inclusion bo... OMIM:605249
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Epistaxis, Thrombocytopenia, Petechiae, Splenomegaly OMIM:314050
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Aortic valve sten... OMIM:614819
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Purpura, Epistaxis, Thrombocytopenia, Impaired ristocetin-induced pl... OMIM:231200
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Congestive heart failure, Tachycardia, Splenomegaly, Pallor ORPHA:90037
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity OMIM:300271
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor, Hypertrophic cardiomyopathy OMIM:612989
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Excessive skin wrinkling on dorsum of hands and fingers OMIM:608763
Retinitis Pigmentosa 27
Pallor OMIM:613750
Refractory Anemia
Erythroid hypoplasia, Abnormal cardiac ventricular function, Neutropenia, Normocytic anemia, Thro... ORPHA:98826
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia ORPHA:1574
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Xk Aprosencephaly Syndrome
Atrial septal defect, Microphthalmia, Ventricular septal defect ORPHA:3469
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect OMIM:178370
Optic Atrophy 1
Pallor OMIM:165500
Hyperinsulinism Due To Ucp2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... ORPHA:276556
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Epistaxis OMIM:616913
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Focal pancreatic i... ORPHA:276575
Von Willebrand Disease, Type 2
Thrombocytopenia, Epistaxis OMIM:613554
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Hypochromic anemia, Pappenheimer bodies, Microcytic anemia, Erythroid hyperplasia, Sideroblastic ... OMIM:600462
Histiocytoid Cardiomyopathy
Congenital aphakia, Atrial flutter, Corneal opacity, Megalocornea, Pulmonary edema, Cardiomegaly,... ORPHA:137675
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia OMIM:616570
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia ORPHA:2432
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Microspherophakia, Deep anterior chamber, Iridodonesis, Megalocornea OMIM:251750
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Epistaxis, Thrombocytopenia, Myocardial infarction, Leukocyte inclusion bodies, Giant platelets, ... OMIM:155100
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Reticulocytosis, Leukocytosis, Prolonged neonatal jaundice, A... OMIM:300908
Congenital Dyserythropoietic Anemia Type Iii
Elevated hepatic transaminase, Abnormal erythrocyte morphology, Melena, Anisocytosis, Anemia, Inc... ORPHA:98870
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Transaldolase Deficiency
Cirrhosis, Premature skin wrinkling, Thrombocytopenia, Anemia, Hepatosplenomegaly, Telangiectasia ORPHA:101028
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia, Hypertrophic cardiomyopathy ORPHA:295
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Neutropenia, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia, Splenomegaly OMIM:603552
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Arrhythmia, Hypertension, Thrombocytopenia, Sideroblastic anemia, Decreased liver function OMIM:617021
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation, Raynaud phenomenon, Hypertension ORPHA:401945
Letterer-Siwe Disease
Neutropenia, Thrombocytopenia, Jaundice, Anemia, Hepatosplenomegaly, Pallor OMIM:246400
Kniest Dysplasia
Laryngotracheomalacia, Lens luxation, Keratan sulfate excretion in urine, Lattice retinal degener... ORPHA:485
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Palpitations, Diffuse pancreatic islet hyperplasia, Hepatomegaly, Tachycardia, Pallor, Hypertroph... ORPHA:276580
Cold Agglutinin Disease
Hepatomegaly, Hemolytic anemia, Pallor, Splenomegaly ORPHA:56425
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Hemolytic anemia, Reticulocytosis, Decreased mean corpuscular volume, Hepatosplenomegaly, Pallor OMIM:611590
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Chronic lymphatic leukemia, Jaundice, Congestive heart failure, Tach... ORPHA:90033
Bleeding Disorder, Platelet-Type, 24
Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Inc... OMIM:619271
Hemolytic anemia, Thrombocytopenia, Jaundice, Hepatomegaly, Myocardial infarction, Congestive hea... ORPHA:108
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Tricuspid regurgitation, Redundant neck skin, Ca... OMIM:618652
Fanconi Anemia, Complementation Group G
Neutropenia, Thrombocytopenia, Microphthalmia, Anemia, Leukemia OMIM:614082
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:615924
Non-Involuting Congenital Hemangioma
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin ORPHA:141179
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia OMIM:609218
Bleeding Disorder, Platelet-Type, 19
Epistaxis, Anemia, Macrothrombocytopenia OMIM:616176
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly, Elevated hepatic transaminase OMIM:610329
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Neutropenia, Anemia OMIM:617475
Microcephaly, Seizures, And Developmental Delay
Ataxia, Hyperactivity OMIM:613402
Dominant Beta-Thalassemia
Hypochromic microcytic anemia, Cirrhosis, Arrhythmia, Decreased mean corpuscular hemoglobin conce... ORPHA:231226
Megabladder, Congenital
Bicuspid aortic valve, Ventricular septal defect, Atrial septal defect, Left ventricular noncompa... OMIM:618719
Spinal Muscular Atrophy, Type I
Atrial septal defect, Ventricular septal defect OMIM:253300
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Thrombocytopenia, Hepatomegaly, Petechiae, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:611490
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Microphthalmia, Isolated 6
Microphthalmia OMIM:613517
Spontaneous Periodic Hypothermia
Arrhythmia, Pallor ORPHA:29822
Neonatal Lupus Erythematosus
Heart block, Hemolytic anemia, Elevated hepatic transaminase, Abnormal electrophysiology of sinoa... ORPHA:398124
Beta-Thalassemia Major
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Reduced hemoglo... ORPHA:231214
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypopla... ORPHA:1209
Idiopathic Aplastic Anemia
Neutropenia, Epistaxis, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Anemia, Retinal hemorr... ORPHA:88
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Angina pectoris, Pancytopenia, Acute myeloid leukemia, Hypoplastic anemia, Pulm... ORPHA:447
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated hepatic transaminase, Reticulocytopenia, Anisopoikilocytosis, Dysplastic erythropoesis, ... ORPHA:300298
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Congenital thrombocytopenia, Epistaxis, Petechiae, Anemia of inadequate production, Acanthocytosi... OMIM:300367
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Elevated hepatic transaminase, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive ... ORPHA:331206
Nail-Patella Syndrome
Keratoconus, Hematuria, Proteinuria, Microphakia, Cataract, Glomerulonephritis, Microcornea, Neph... OMIM:161200
Sotos Syndrome 3
Hyperactivity OMIM:617169
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect OMIM:615297
Macrothrombocytopenia and progressive sensorineural deafness
Thrombocytopenia, Giant platelets, Macrothrombocytopenia OMIM:600208
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Hypotension, Chronic lymphatic leukemia, Syncope, Normocytic anem... ORPHA:98849
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin ORPHA:141184
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Pallor ORPHA:276608
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Rheumatic Fever
Arrhythmia, Endocarditis, Pericarditis, Abnormal mitral valve morphology, Abnormal heart valve mo... ORPHA:3099
Fetal Gaucher Disease
Stillbirth, Intracranial hemorrhage, Pancytopenia, Thrombocytopenia, Hepatomegaly, Neonatal death... ORPHA:85212
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Elevated systolic blood pr... ORPHA:275555
Purpura, Myeloproliferative disorder, Pallor, Splenomegaly OMIM:254450
Hyperinsulinism Due To Hnf1A Deficiency
Palpitations, Hepatomegaly, Tachycardia, Pallor, Syncope ORPHA:324575
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Anterior Segment Dysgenesis 2
Aniridia, Congenital aphakia, Anterior segment of eye aplasia, Cataract, Peters anomaly, Microcor... OMIM:610256
Congenital Varicella Syndrome
Microphthalmia ORPHA:291
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Smith-Magenis syndrome
Hyperactivity DECIPHER:8
Mesoaxial Hexadactyly And Cardiac Malformation
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
American Trypanosomiasis
Arrhythmia, Hepatomegaly, Splenomegaly, Congestive heart failure, Myocarditis, Pallor, Cardiomyop... ORPHA:3386
Long Qt Syndrome 16
T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,... OMIM:618782
Fanconi Anemia, Complementation Group I
Atrial septal defect, Ventricular septal defect, Neutropenia, Optic nerve hypoplasia, Microphthal... OMIM:609053
Lysosomal Acid Lipase Deficiency
Bone-marrow foam cells, Cirrhosis, Elevated circulating aspartate aminotransferase concentration,... OMIM:278000
Non-Functioning Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:94080
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Crimean-Congo Hemorrhagic Fever
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Hepatic steatosis, Epistaxis, Thrombo... ORPHA:99827
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Intellectual Developmental Disorder, X-Linked 104
Tremor, Ataxia, Hyperactivity OMIM:300983
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Decreased liver function, Cardiomyopathy ORPHA:67048
Cyclic Vomiting Syndrome
Pallor, Cardiomyopathy OMIM:500007
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal hypertrophy, Ventricular septal defect OMIM:614947
Dengue Fever
Gastrointestinal hemorrhage, Hypotension, Epistaxis, Thrombocytopenia, Hepatomegaly, Petechiae, C... ORPHA:99828
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia OMIM:278780
Acquired Purpura Fulminans
Internal hemorrhage, Intracranial hemorrhage, Thrombocytopenia, Macular purpura, Pyoderma gangren... ORPHA:49566
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
Rhabdoid Tumor
Internal hemorrhage, Neoplasm of the liver, Hypertension, Thrombocytopenia, Anemia ORPHA:69077
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Anemia, Leukopenia, Dry skin OMIM:618116
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Ventricular septal defect, Ectopia lentis, Patent ductus arteriosus, Mi... OMIM:277600
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia OMIM:120433
Refractory Anemia With Excess Blasts
Anemic pallor, Palpitations, Leukocytosis, Thrombocytopenia, Acute myeloid leukemia, Anemia of in... ORPHA:86839
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Abnormal tricuspid valve morphology, Vent... ORPHA:1354
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Epistaxis, Thrombocytopenia, Petechiae, Absence of alpha granules, A... OMIM:187900
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Pancytopenia, Anemia OMIM:616435
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Thrombocytopenia, Acute myeloid leukemia, Increased mean corpuscular volume OMIM:252270
Faciothoracogenital Syndrome
Microphthalmia OMIM:227320
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Impaired platelet aggregation, Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphol... OMIM:300835
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Hepatomegaly, Fulmi... OMIM:308240
Aicardi-Goutieres Syndrome 4
Elevated hepatic transaminase, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Hepato... OMIM:610333
Sepsis In Premature Infants
Purpura, Leukocytosis, Hypotension, Neutropenia, Bradycardia, Thrombocytopenia, Jaundice, Hepatom... ORPHA:90051
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Neutropenia, Pancytopenia, Thrombocytopenia, Hypoplastic anemia, A... OMIM:159550
Aicardi-Goutieres Syndrome 5
Thrombocytopenia, Scaling skin, Dry skin OMIM:612952
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia ORPHA:2528
Microphthalmia, Syndromic 8
Microphthalmia, Premature skin wrinkling OMIM:601349
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Thrombotic Thrombocytopenic Purpura
Microangiopathic hemolytic anemia, Arrhythmia, Reticulocytosis, Thrombocytopenia, Myocardial infa... ORPHA:54057
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated hepatic transaminase, Hepatomegaly OMIM:614727
Pulmonary hemorrhage, Neutropenia, Thrombocytopenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Thrombocytopenia, Anemia ORPHA:673
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Microphthalmia OMIM:614830
Hereditary Folate Malabsorption
Megaloblastic anemia, Pancytopenia, Thrombocytopenia, Pallor, Eosinophilia ORPHA:90045
Aicardi-Goutieres Syndrome 7
Thrombocytopenia, Vasculitis, Hepatomegaly, Splenomegaly OMIM:615846
Thrombocytopenia 3
Thrombocytopenia, Petechiae, Decreased mean platelet volume, Epistaxis OMIM:273900
Myh9-Related Disease
Elevated hepatic transaminase, Spontaneous, recurrent epistaxis, Congenital thrombocytopenia, Inc... ORPHA:182050
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Ventricular septal defect, Lens luxation, Mitral regurgitation, Patent ... OMIM:608328
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Thrombocytopenia, Hepatomegaly, Petechiae, Decreased liver functio... OMIM:617397
Aminoacylase 1 Deficiency
Hyperactivity OMIM:609924
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Pallor ORPHA:90036
Vitamin B12-Unresponsive Methylmalonic Acidemia
Thrombocytopenia, Hepatomegaly, Anemia, Leukopenia, Pancreatitis, Cardiomyopathy, Macrocytic anemia ORPHA:27
Sea-Blue Histiocytosis
Thrombocytopenia, Sea-blue histiocytosis, Petechiae, Hepatomegaly, Splenomegaly ORPHA:158029
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Thrombocytopenia... ORPHA:290
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity OMIM:301013
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia OMIM:615008
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Sengers Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy OMIM:212350
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Neutropenia, Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly, Pancreatitis, Cardiomyopathy ORPHA:79312
Chronic Myeloid Leukemia
Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Thro... ORPHA:521
Snakebite Envenomation
Cardiogenic shock, Intracranial hemorrhage, Hypotension, Epistaxis, Erythema, Thrombocytopenia, M... ORPHA:449285
Congenital Toxoplasmosis
Elevated hepatic transaminase, Thrombocytopenia, Jaundice, Hepatomegaly, Anemia ORPHA:858
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Reduced systolic function, Microphthalmia, Microcytic anemia OMIM:618805
Atrioventricular Septal Defect 5
Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Joint hemorrhage, Epistaxis OMIM:601709
Gaucher Disease, Type I
Epistaxis, Hypertension, Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly, Aortic valve... OMIM:230800
Ebola Hemorrhagic Fever
Gastrointestinal hemorrhage, Acute hepatic failure, Epistaxis, Thrombocytopenia, Cardiac arrest, ... ORPHA:319218
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Cirrhosis, Pancytopenia OMIM:613987
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Thrombocytopenia, Anemia, Splenomegaly, Hepatosplenomegaly OMIM:613101
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Impaired platelet aggregation, Acute monocytic leukemia, Abnormal alpha granule content, Abnormal... OMIM:601399
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Microphthalmia OMIM:616171
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Fetal Minoxidil Syndrome
Ventricular septal defect ORPHA:1918
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Single ventricle, Cardiac conduction abnormality, Supraventricular... ORPHA:216694
Juvenile Huntington Disease
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Progressive cerebellar ataxia, Hyperactivity, Broad-... ORPHA:248111
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Purpura, Abnormality of neutrophils, Epistaxis, Normocytic anemia, H... ORPHA:33226
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Otodental Syndrome
Retinal coloboma, Iris coloboma, Lens coloboma, Cataract, Microcornea, Microphthalmia, Anteverted... ORPHA:2791
Retinitis Pigmentosa 75
Pallor OMIM:617023
Marburg Hemorrhagic Fever
Elevated hepatic transaminase, Gastrointestinal hemorrhage, Subconjunctival hemorrhage, Thrombocy... ORPHA:99826
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Diamond-Blackfan Anemia 12
Elevated red cell adenosine deaminase level, Ventricular septal defect, Reticulocytopenia, Normoc... OMIM:615550
Gaucher Disease, Type Iii
Pancytopenia, Thrombocytopenia, Hepatomegaly, Splenomegaly OMIM:231000
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Pulmonary arterial hypertension, Hypertensio... OMIM:600309
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Leukemia, Microphthalmia, Ventricular septal defect OMIM:602501
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Pallor, Anemia OMIM:246450
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormality of the hepatic vasculature, Elevated hepatic transaminase, Nodular regenerative hyper... ORPHA:210136
Fetal And Neonatal Alloimmune Thrombocytopenia
Gastrointestinal hemorrhage, Purpura, Intracranial hemorrhage, Subarachnoid hemorrhage, Melena, P... ORPHA:853
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Tremor, Ataxia, Dystonia OMIM:612716
Infections, Recurrent, With Encephalopathy, Hepatic Dysfunction, And Cardiovascular Malformations
Howell-Jolly bodies, Ventricular septal defect OMIM:613759
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Anemia, Hepatomegaly ORPHA:2123
Microphthalmia, Isolated, With Corectopia
Microphthalmia OMIM:156900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity ORPHA:85288
Grange Syndrome
Hypertension, Aortic regurgitation, Ventricular septal defect ORPHA:79094
Irida Syndrome
Pallor ORPHA:209981
Mental Retardation, X-Linked 77
Hyperactivity OMIM:300454
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Ventricular septal defect OMIM:616277
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia OMIM:274270
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:614262
Ventricular Septal Defect 3
Atrial septal defect, Ventricular septal defect OMIM:614432
Retinitis Pigmentosa And Erythrocytic Microcytosis
Elliptocytosis, Anisocytosis, Anemia, Decreased mean corpuscular volume, Pallor, Poikilocytosis OMIM:616959
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hepatomegaly, Pancreatitis, Anemia ORPHA:289916
Hyperprolinemia, Type I
Ataxia, Hyperactivity OMIM:239500
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
3-Hydroxy-3-Methylglutaric Aciduria
Thrombocytosis, Elevated hepatic transaminase, Leukocytosis, Hypotension, Acute pancreatitis, Hep... ORPHA:20
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia, Pyoderma gangrenosum OMIM:616576
Prolidase Deficiency
Diffuse telangiectasia, Thrombocytopenia, Hepatomegaly, Prolonged neonatal jaundice, Splenomegaly... OMIM:170100
Cataract 9, Multiple Types
Microphthalmia OMIM:604219
Idiopathic Uveal Effusion Syndrome
Microphthalmia ORPHA:209956
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Congenital Heart Defects, Multiple Types, 6
Single ventricle, Ventricular septal defect, Complete atrioventricular canal defect, Secundum atr... OMIM:613854
Wt Limb-Blood Syndrome
Thrombocytopenia, Hypoplastic anemia, Pancytopenia, Leukemia OMIM:194350
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Pyoderma g... OMIM:150550
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated hepatic transaminase, Thrombocytopenia, Congestive hea... OMIM:611126
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Situs inversus totalis, Arrhythmia, Ventricular septal defect, Thiamine-res... OMIM:249270
Wilson Disease
Acute hepatitis, Cirrhosis, Elevated hepatic transaminase, Hepatic steatosis, Acute hepatic failu... ORPHA:905
Tufted Angioma
Thrombocytopenia, Petechiae, Anemia, Purpura ORPHA:1063
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Atrial situs ambiguous, Doub... OMIM:617205
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly OMIM:617441
Pontocerebellar Hypoplasia, Type 14
Thrombocytopenia, Chronic neutropenia OMIM:619301
Gaucher Disease, Type Ii
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:230900
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Macrothrombocytopenia, Anisocytosis, Anemia of inadequate production, Poikilo... ORPHA:67044
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Isovaleric Acidemia
Thrombocytopenia, Cerebellar hemorrhage, Pancytopenia, Leukopenia OMIM:243500
Transaldolase Deficiency
Micronodular cirrhosis, Cirrhosis, Pancytopenia, Thrombocytopenia, Hepatic fibrosis, Decreased li... OMIM:606003
Biemond Syndrome Type 2
Microphthalmia ORPHA:141333
Glycine Encephalopathy
Lethargy, Hyperactivity OMIM:605899
8P23.1 Duplication Syndrome
Pulmonic stenosis, Tetralogy of Fallot, Ventricular septal defect ORPHA:251076
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Aortic Valve Disease 1
Mitral atresia, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventricle, ... OMIM:109730
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Diffuse alveolar hemorrhage, A... OMIM:616050
Diamond-Blackfan Anemia 6
Atrial septal defect, Ventricular hypertrophy, Persistence of hemoglobin F, Ventricular septal de... OMIM:612561
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Micronodular cirrhosis, Depletion of mitochondrial DNA in liver, Hepatocellular necrosis, Elevate... OMIM:251880
Congenital Disorder Of Glycosylation, Type Iif
Pulmonary hemorrhage, Aortic regurgitation, Neutropenia, Macrothrombocytopenia, Thrombocytopenia,... OMIM:603585
Marfan Syndrome
Aortic regurgitation, Emphysema, Pulmonary artery dilatation, Ectopia lentis, Microspherophakia, ... OMIM:154700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Microphthalmia OMIM:610023
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Thrombocytopenia, Neutropenia, Sideroblastic anemia OMIM:598500
Aggressive Systemic Mastocytosis
Increased proportion of CD25+ mast cells, Gastrointestinal hemorrhage, Leukocytosis, Hypotension,... ORPHA:98850
Microphthalmia, Syndromic 11
Microphthalmia OMIM:614402
Beta-Ketothiolase Deficiency
Thrombocytosis, Leukocytosis, Hypotension, Hypertension, Hepatomegaly, Pallor ORPHA:134
Lymphoproliferative Syndrome 1
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4-positive he... OMIM:613011
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Epistaxis, Imp... OMIM:139090
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Microphthalmia OMIM:267760
Retinitis Pigmentosa 51
Pallor OMIM:613464
Fanconi Anemia, Complementation Group J
Microphthalmia OMIM:609054
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Extramedullary hematopoiesis, Pancytopenia, Thrombocytopenia, Hepatomegaly, Anemia, S... OMIM:259720
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia OMIM:212550
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:83473
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Isolated Agammaglobulinemia
Abnormality of neutrophils, Abnormal lymphocyte morphology, Thrombocytopenia, Anemia, Skin ulcer ORPHA:229717
Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Pallor, Increased hepatic glycogen cont... ORPHA:263455
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, Hepatomegaly, B lymphocytop... OMIM:603554
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect OMIM:617992
Subaortic Stenosis-Short Stature Syndrome
Subvalvular aortic stenosis, Arrhythmia, Microphthalmia, Membranous subvalvular aortic stenosis ORPHA:3191
2Q24 Microdeletion Syndrome
Microphthalmia ORPHA:1617
Idiopathic Hypereosinophilic Syndrome
Intracranial hemorrhage, Vasculitis in the skin, Chronic hepatitis, Pulmonary embolism, Anemia, N... ORPHA:3260
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia OMIM:614946
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Lens coloboma, Pulmonic stenosis, Microphthalmia, Patent foramen ovale OMIM:618914
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Microphthalmia, Ventricular septal defect ORPHA:93267
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Acute Promyelocytic Leukemia
Purpura, Leukocytosis, Neutropenia, Epistaxis, Pancytopenia, Thrombocytopenia, Petechiae, Diffuse... ORPHA:520
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Pierpont Syndrome
Excessive wrinkling of palmar skin, Microphthalmia ORPHA:487825
Senior-Loken Syndrome 8
Hepatic cysts, Pancreatic cysts, Pallor OMIM:616307
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cerebellar hemorrhage, Thrombocytopenia, Hepatomegaly, Pancreatitis, Leukopenia, Cardiomyopathy OMIM:251000
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Microphthalmia, Syndromic 13
Microphthalmia OMIM:300915
Microcephaly 20, Primary, Autosomal Recessive
Optic nerve hypoplasia, Microphthalmia OMIM:617914
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Ventricul... OMIM:208530
Mannosidosis, Beta A, Lysosomal
Hyperactivity OMIM:248510
Fechtner syndrome
Thrombocytopenia, Leukocyte inclusion bodies, Neutrophil inclusion bodies, Giant platelets OMIM:153640
Immunodeficiency 46
Intermittent thrombocytopenia, Neutropenia, Anemia OMIM:616740
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Microphthalmia OMIM:615113
Congenital Disorder Of Glycosylation, Type Ih
Cholestasis, Thrombocytopenia, Hepatomegaly, Decreased liver function, Anemia OMIM:608104
Craniotelencephalic Dysplasia
Optic nerve hypoplasia, Microphthalmia OMIM:218670
Fumarase Deficiency
Polycythemia, Pallor, Hepatic failure, Cholestasis OMIM:606812
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Joint hemorrhage, Congenital throm... OMIM:313900
Relapsing Fever
Elevated hepatic transaminase, Leukocytosis, Hypotension, Epistaxis, Thrombocytopenia, Jaundice, ... ORPHA:91547
Caroli Syndrome
Cirrhosis, Elevated hepatic transaminase, Hematemesis, Leukocytosis, Intrahepatic cholestasis, Me... ORPHA:480520
Seckel Syndrome 2
Heart murmur, Microphthalmia OMIM:606744
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he... ORPHA:464343
Noonan Syndrome 12
Ventricular septal defect, Lymphopenia, Thrombocytopenia, Supravalvular aortic stenosis, Tetralog... OMIM:618624
Sporadic Pheochromocytoma/Secreting Paraganglioma
Palpitations, Hypertension associated with pheochromocytoma, Positive regitine blocking test, Sin... ORPHA:276621
Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Optic nerve hypoplasia, Unilateral microph... ORPHA:137902
Von Willebrand Disease, Type 3
Thrombocytopenia, Impaired platelet aggregation, Joint hemorrhage, Epistaxis OMIM:277480
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Microphthalmia ORPHA:324416
Congenital Enterovirus Infection