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Gene: Ier5l MGI:1919750

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Gene Summary

Name:
immediate early response 5-like
Synonyms:
2610524G09Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
thrombocytopenia Ier5lem1(IMPC)J HOM   Early adult 9.98×10-05
abnormal bone structure Ier5lem1(IMPC)J HOM Early adult 2.99×10-07
decreased locomotor activity Ier5lem1(IMPC)J HOM Early adult 1.94×10-05
increased heart weight Ier5lem1(IMPC)J HOM Early adult 1.46×10-05
abnormal retina blood vessel morphology Ier5lem1(IMPC)J HOM Early adult 2.10×10-09
increased circulating phosphate level Ier5lem1(IMPC)J HOM Early adult 6.87×10-05
hyperactivity Ier5lem1(IMPC)J HOM Early adult 4.09×10-05
decreased bone mineral content Ier5lem1(IMPC)J HOM Early adult 1.04×10-08

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

1 Images

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X-ray

XRay Images Skull Lateral Orientation

1 Images

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X-ray

XRay Images Forepaw

1 Images

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X-ray

XRay Images Whole Body Lateral Orientation

1 Images

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Eye Morphology

Images Ophthalmoscopy

3 Images

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Electroretinography 3

Fundus file

2 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

1 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

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

5 Images

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Human diseases caused by Ier5l 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 Ier5l by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:618883
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Anemia, Abnormal cardiac septum morphology, Decreased skull ossification, Th... ORPHA:3319
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Pseudohypoparathyroidism, Type Ii
Hyperphosphatemia, Hypocalcemia OMIM:203330
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... OMIM:617994
Pseudopseudohypoparathyroidism
Ectopic ossification, Hyperphosphatemia, Hypocalcemia ORPHA:79445
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Angioid streaks of the fundus, Hyperostosis, Subperiosteal bone formation, Hyperphosp... OMIM:211900
Malaria
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Gait imbalance, Hyperbil... ORPHA:673
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Macular scar, Hydroxyprolinemia, Osteoporosis, Angioi... OMIM:239000
Kenny-Caffey Syndrome, Type 2
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Retinal calcification, H... OMIM:127000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia ORPHA:2239
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Autoimmune Hypoparathyroidism
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... ORPHA:36913
Calciphylaxis
Ectopic ossification, Hyperphosphatemia ORPHA:280062
Malignant Hyperthermia, Susceptibility To, 2
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154275
Pseudohypoparathyroidism, Type Ib
Hyperphosphatemia, Hypocalcemia OMIM:603233
Malignant Hyperthermia, Susceptibility To, 3
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:154276
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia OMIM:601198
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Niemann-Pick Disease, Type B
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:607616
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Pseudohypoparathyroidism, Type Ic
Hypocalcemic tetany, Hyperphosphatemia, Osteoporosis, Hypocalcemia OMIM:612462
Pseudohypoparathyroidism, Type Ia
Hypocalcemic tetany, Subcutaneous ossification, Osteoporosis, Hyperphosphatemia OMIM:103580
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Hepatomegaly, Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Pseudohypoparathyroidism Type 2
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures ORPHA:94090
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Osteopetrosis, Autosomal Recessive 4
Reticulocytosis, Increased bone mineral density, Hepatomegaly, Optic disc pallor, Splenomegaly, O... OMIM:611490
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Hypocalcemia, Hypophosphatemia OMIM:619073
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Retinal dystrophy, Anorexia, Megaloblastic anemia, Optic atrophy, Atri... ORPHA:49827
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anorexia, Splenomegaly, Optic atrophy, Hyperammonemia, Anemia, Cardiomyopathy, Chor... ORPHA:79312
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Leukocytosis, Myocardial eosinophilic infiltration, Anemia OMIM:131400
Hypophosphatemic Bone Disease
Rickets, Osteomalacia, Hypophosphatemia OMIM:146350
Blue Diaper Syndrome
Hyperphosphatemia, Hypercalcemia ORPHA:94086
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Hepatomegaly, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thro... OMIM:133180
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia, Lethargy OMIM:605899
Osteopetrosis, Autosomal Recessive 8
Hepatomegaly, Splenomegaly, Optic atrophy, Anemia, Osteopetrosis, Thrombocytopenia OMIM:615085
Intermediate Osteopetrosis
Cortical sclerosis, Generalized osteosclerosis, Thrombocytopenia, Hepatosplenomegaly, Osteosclero... ORPHA:210110
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Hypophosphatemic Rickets, Autosomal Dominant
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia OMIM:193100
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Hypocalcemic seizures, Hypocalcemia, Patchy osteosclerosis, Hyperphosphatemia OMIM:241410
Autosomal Dominant Kenny-Caffey Syndrome
Papilledema, Retinal calcification, Cortical thickening of long bone diaphyses, Hypocalcemic seiz... ORPHA:93325
Pseudohypoparathyroidism Type 1B
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Increased bo... ORPHA:94089
Forsythe-Wakeling Syndrome
Osteoporosis, Thrombocytopenia OMIM:613606
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hepatomegaly, Macrocytic anemia, Ataxia, Optic atrophy, Hyperammonemia, Anemia, Leukopenia, Cardi... ORPHA:27
Neuroleptic Malignant Syndrome
Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Dys... ORPHA:94093
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Unsteady gait, Acute myelomonocytic leukemia, Dysmetria, Anemia, Neutropeni... OMIM:159550
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Sideroblastic anemia, Ventricular septal defect, Ataxia, Situs inversus ... OMIM:249270
Hyperprolinemia, Type I
Hyperactivity, Ataxia, Aggressive behavior, Hyperprolinemia, Abnormal repetitive mannerisms OMIM:239500
Thrombocytopenia, Anemia, And Myelofibrosis
Myelofibrosis, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia OMIM:617441
Genetic Recurrent Myoglobinuria
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking ORPHA:99845
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... OMIM:615285
Pseudohypoparathyroidism Type 1A
Calcinosis, Increased bone mineral density, Reduced bone mineral density, Choreoathetosis, Hypero... ORPHA:79443
Beta-Thalassemia
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Reduced bone mineral density,... ORPHA:848
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Hepatomegaly, Optic atrophy, Hyperammonemia, Choreoathetosis, Anemia, Neutropenia, Lethargy, Thro... ORPHA:289916
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Hypocalcemic Vitamin D-Resistant Rickets
Osteomalacia, Bone cyst, Osteolysis, Gait disturbance, Hypocalcemia, Hypophosphatemia, Abnormal b... ORPHA:93160
Bilateral Striopallidodentate Calcinosis
Hepatomegaly, Thrombocytopenia ORPHA:1980
Autosomal Dominant Hypocalcemia
Optic atrophy, Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:428
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Rickets, Iron deficiency anemia, Hypocalcemia, Hypophosphatemia ORPHA:89937
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... OMIM:603552
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Cystinosis
Abnormal repetitive mannerisms, Rickets, Hypokalemia, Gait disturbance, Hypophosphatemia, Polydip... ORPHA:213
Refractory Celiac Disease
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,... ORPHA:398063
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612287
Sanjad-Sakati Syndrome
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis ORPHA:2323
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Broad-based gait, Aggressive behavior, Optic atrophy, Abnormal repetitive mannerisms OMIM:619470
Linear Verrucous Nevus Syndrome
Retinopathy, Hypophosphatemia, Aplasia/Hypoplasia of the fovea, Reduced bone mineral density ORPHA:2611
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Hepatomegaly, Splenomegaly, Loss of ambulation, Thrombocytopenia OMIM:615010
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Refractory anemia, Increased bone mineral density, Thrombocytopenia, Leukopenia, H... OMIM:231095
Pseudohypoparathyroidism Type 1C
Calcinosis, Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany,... ORPHA:79444
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Difficulty walkin... OMIM:600081
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Osteoporosis, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... ORPHA:157215
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... ORPHA:75564
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Optic atrophy, Epiphyseal stippling, Hyperphosphatemia, Calvarial ... OMIM:101800
8p23.1 deletion syndrome
Atrial septal defect, Atrioventricular canal defect, Hyperactivity, Abnormal heart morphology DECIPHER:39
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Osteoporosis, Hypophosphatemia OMIM:612286
Folate Malabsorption, Hereditary
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Neutropenia, Thrombocytopenia OMIM:229050
Fetal Parvovirus Syndrome
Thrombocytopenia, Hypertrophic cardiomyopathy, Anemia ORPHA:295
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Abnormal circulating calcium concentration, Delayed epiphyseal ossification, Rickets, Sparse bone... OMIM:241530
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy, Aggressive behavior ORPHA:75858
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Familial Isolated Hyperparathyroidism
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia ORPHA:99879
Congenital Toxoplasmosis
Hepatomegaly, Abnormality of retinal pigmentation, Cardiomegaly, Anemia, Thrombocytopenia ORPHA:858
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hepatomegaly, Hyperactivity, Hypertriglyceridemia, Ataxia OMIM:615924
Osteopetrosis, Autosomal Recessive 2
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Cranial hyperostosis, Optic atrophy... OMIM:259710
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio... OMIM:613101
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Transaldolase Deficiency
Hepatosplenomegaly, Biventricular hypertrophy, Anemia, Abnormal circulating glutamine concentrati... ORPHA:101028
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Gamma-Heavy Chain Disease
Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto... ORPHA:100026
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Osteopetrosis, Autosomal Recessive 1
Hepatomegaly, Increased bone mineral density, Pancytopenia, Craniosynostosis, Thrombocytopenia, S... OMIM:259700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Hypocalc... OMIM:264700
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Cardiomegaly ORPHA:88643
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Elevated creatine kinase after exercise, Hyperphosphatemia, Cardiomyocyte mitochond... ORPHA:423
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Bradykinesia, Self-injurious behavi... OMIM:619827
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Propionic Acidemia
Hepatomegaly, Pancytopenia, Osteoporosis, Hyperammonemia, Anemia, Cardiomyopathy, Hyperglycinemia... OMIM:606054
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Hypophosphatemic Rickets, X-Linked Recessive
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300554
Lymphoproliferative Syndrome 1
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... OMIM:613011
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Leishmaniasis
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Splenomegaly, Anemia, Leuko... ORPHA:507
Exercise-Induced Malignant Hyperthermia
Ataxia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypo... ORPHA:466650
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Ataxia, Severe temper tantrums, Aggressive behavior, Optic atrophy, Dysmetria, Cardiomyopathy, At... OMIM:617710
Gaucher Disease, Type Iii
Hepatomegaly, Pancytopenia, Ataxia, Splenomegaly, Thrombocytopenia OMIM:231000
Hypocalcemic Vitamin D-Dependent Rickets
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seiz... ORPHA:289157
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia, Hepatomegaly ORPHA:2123
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemic seizures, Difficul... OMIM:277440
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Atelis Syndrome 1
Ventricular septal defect, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Atrial s... OMIM:620184
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Leukopenia, Optic neuritis, Lymphopenia, Thrombocytopenia OMIM:301080
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Gray Platelet Syndrome
Myelofibrosis, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules,... OMIM:139090
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Po... OMIM:193235
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Hypercalcemia, Infantile, 2
Hypercalcemia, Hypophosphatemia OMIM:616963
Hemorrhagic Fever-Renal Syndrome
Leukocytosis, Elevated circulating creatinine concentration, Hyperkalemia, Anemia, Hyperphosphate... ORPHA:340
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Choreoathetosis, Transient hyperphenylalaninemia OMIM:612716
Aggressive Systemic Mastocytosis
Pancytopenia, Anorexia, Hypersplenism, Thrombocytopenia, Leukocytosis, Osteoporosis, Osteolysis, ... ORPHA:98850
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Fanconi Renotubular Syndrome 1
Hypokalemia, Rickets, Osteomalacia, Hypophosphatemia OMIM:134600
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Fanconi Renotubular Syndrome 2
Osteopenia, Rickets, Osteomalacia, Hypophosphatemia OMIM:613388
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ... OMIM:616050
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia... OMIM:267700
Hypophosphatemic Rickets And Hyperparathyroidism
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia OMIM:612089
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Abnormal platelet aggregation, Ocular albinism, Leukopenia, Hypopigmentation of... OMIM:614171
Thyrocerebrorenal Syndrome
Nonprogressive cerebellar ataxia, Thrombocytopenia ORPHA:3327
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Optic atrophy, Neutropenia, Thrombocytopenia OMIM:598500
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Babesiosis
Hemolytic anemia, Hepatomegaly, Anorexia, Splenomegaly, Leukopenia, Thrombocytopenia ORPHA:108
Wolfram Syndrome 1
Sideroblastic anemia, Ataxia, Megaloblastic anemia, Optic atrophy, Cardiomyopathy, Pigmentary ret... OMIM:222300
Immunodeficiency 32B
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalb... OMIM:226990
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Gaucher Disease Type 1
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Anorexia, Hypersplenism, ... ORPHA:77259
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... OMIM:252920
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia OMIM:618913
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Anemia OMIM:239200
Isovaleric Acidemia
Leukopenia, Pancytopenia, Lethargy, Thrombocytopenia OMIM:243500
Lymphoproliferative Syndrome, X-Linked, 1
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... OMIM:308240
Holocarboxylase Synthetase Deficiency
Ataxia, Anorexia, Hyperammonemia, Lethargy, Thrombocytopenia ORPHA:79242
Sea-Blue Histiocytosis
Hepatomegaly, Splenomegaly, Sea-blue histiocytosis, Retinopathy, Thrombocytopenia ORPHA:158029
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... OMIM:614857
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Pancytopenia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia OMIM:610333
Oncogenic Osteomalacia
Fibrous dysplasia of the bones, Gait disturbance, Hypocalcemia, Hypophosphatemia ORPHA:352540
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Hyperammonemia, Leukopenia, Cardiomyopathy, Hyperglycinemia... OMIM:251000
Hypophosphatemic Rickets, X-Linked Dominant
Osteomalacia, Abnormal circulating calcium concentration, Rickets, Hypophosphatemia, Hypophosphat... OMIM:307800
Amed Syndrome, Digenic
Acute myeloid leukemia, Anemia, Leukopenia, Attention deficit hyperactivity disorder, Thrombocyto... OMIM:619151
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Thrombocytopenia ORPHA:67048
Congenital Rubella Syndrome
Hepatomegaly, Abnormality of retinal pigmentation, Ventricular septal defect, Splenomegaly, Anemi... ORPHA:290
Fibrous Dysplasia Of Bone
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Fibrous dysp... ORPHA:249
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hepatomegaly, Hypouricemia, Rickets, Hypophosphatemia OMIM:616026
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules... OMIM:187900
Thrombocytopenia 6
Myelofibrosis, Osteoporosis, Thrombocytopenia OMIM:616937
Sengers Syndrome
Osteopenia, Hypertrophic cardiomyopathy, Thrombocytopenia OMIM:212350
Combined Oxidative Phosphorylation Deficiency 55
Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp... OMIM:619743
Primary Myelofibrosis
Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Anorexia, Thrombocytopenia, Leukocytosi... ORPHA:824
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Noonan Syndrome 12
Lymphopenia, Ventricular septal defect, Tetralogy of Fallot, Thrombocytopenia OMIM:618624
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno... OMIM:210250
Immunodeficiency 98 With Autoinflammation, X-Linked
Myelofibrosis, Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemoph... OMIM:301078
Specific Granule Deficiency 2
Osteopenia, Absent neutrophil specific granules, Anemia, Neutropenia, Thrombocytopenia OMIM:617475
Osteopetrosis, Autosomal Recessive 5
Hepatomegaly, Increased bone mineral density, Extramedullary hematopoiesis, Pancytopenia, Optic d... OMIM:259720
Optic Atrophy 11
Hyperactivity, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atrophy, Dysmetr... OMIM:617302
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Stuve-Wiedemann Syndrome 2
Thrombocytopenia, Dysphagia OMIM:619751
Dent Disease 1
Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypophosphatemia,... OMIM:300009
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Hepatomegaly, Pancytopenia, Ataxia, Megaloblastic anemia, Increased mean corpuscular volume, Thro... OMIM:613839
Thyrocerebroretinal Syndrome
Ataxia, Thrombocytopenia OMIM:274240
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hypercalcemia, Waddling gait, Hypophosphatemia OMIM:156400
Dent Disease 2
Elevated circulating creatine kinase concentration, Hypophosphatemia OMIM:300555
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251110
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Fanconi-Bickel Syndrome
Hepatomegaly, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Hypergalactosem... OMIM:227810
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased c... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iif
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia OMIM:603585
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... OMIM:600649
Colchicine Poisoning
Hyponatremia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypo... ORPHA:31824
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... OMIM:617021
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti... ORPHA:86839
Fanconi Anemia, Complementation Group V
Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia OMIM:617243
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Drug-Induced Lupus Erythematosus
Pericarditis, Elevated circulating creatine kinase concentration, Elevated circulating C-reactive... ORPHA:231111
Gaucher Disease Type 3
Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcification, Abnormal ... ORPHA:77261
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp... OMIM:613845
Fanconi-Bickel Syndrome
Osteopenia, Hepatomegaly, Hypertriglyceridemia, Rickets, Hypophosphatemia ORPHA:2088
Deafness-Lymphedema-Leukemia Syndrome
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Abnormal opt... ORPHA:3226
Pearson Syndrome
Reticulocytosis, Pancytopenia, Hepatomegaly, Ataxia, Splenomegaly, Hypomagnesemia, Dysphagia, Abn... ORPHA:699
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Dextrocardia, Megaloblastic anemia, Hyperhomo... OMIM:277380
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Myocardial fibrosis, Thrombocytopenia, Hepatospleno... ORPHA:210136
Mevalonic Aciduria
Normocytic hypoplastic anemia, Optic disc pallor, Ataxia, Elevated circulating creatine kinase co... OMIM:610377
Infantile Nephropathic Cystinosis
Rickets, Abnormal blood ion concentration, Pigmentary retinopathy, Hypokalemia, Hypophosphatemia,... ORPHA:411629
Macrophage Activation Syndrome
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Spleno... ORPHA:158061
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Dengue Fever
Hepatomegaly, Leukopenia, Lethargy, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia, Dysphagia OMIM:615750
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Cog4-Cdg
Hypercholesterolemia, Ataxia, Thrombocytopenia, Hepatosplenomegaly ORPHA:263501
Griscelli Syndrome
Hepatomegaly, Ataxia, Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating ... ORPHA:381
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypercalcemia, Hypermagnesemia, Osteomalacia, Hypophosphatemia OMIM:600740
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormal... ORPHA:77293
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Wilson Disease
Hepatomegaly, Aggressive behavior, Splenomegaly, Hypersexuality, Anemia, Difficulty walking, Thro... ORPHA:905
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Hepatomegaly, Aplastic anemia, Splenomegaly, Dilated cardiomyopat... ORPHA:398124
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Hepatomegaly, Ataxia, Thrombocytopenia, Splenomegaly, ... OMIM:214500
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Macular atrophy, Hypersplenism, Splenomegaly, Anemia, Aortic valve st... OMIM:230800
Mccune-Albright Syndrome
Pancytopenia, Osteomalacia, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia, Aneury... ORPHA:562
Autoimmune Lymphoproliferative Syndrome, Type Iia
Hepatomegaly, Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegal... OMIM:603909
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Alg8-Cdg
Hyponatremia, Ataxia, Optic atrophy, Anemia, Retinopathy, Thrombocytopenia ORPHA:79325
Dyskeratosis Congenita, Autosomal Dominant 3
Pancytopenia, Aplastic anemia, Ataxia, Osteoporosis, Leukopenia, Exudative retinopathy, Thrombocy... OMIM:613990
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Abnormal heart morphology, Neutropenia, Lethargy, Thrombocytopenia ORPHA:391673
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m... ORPHA:667
Felty Syndrome
Hepatomegaly, Pericarditis, Splenomegaly, Osteolysis, Anemia, Neutropenia, Abnormal lymphocyte mo... ORPHA:47612
Pseudo-Torch Syndrome 3
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytop... OMIM:618886
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Hyperactivity, Aplastic anemia, Retinal dystrophy, Thromboc... OMIM:617052
Hemophagocytic Syndrome Associated With An Infection
Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer... ORPHA:158048
Cystinosis, Nephropathic
Hyponatremia, Hepatomegaly, Oral-pharyngeal dysphagia, Splenomegaly, Retinal pigment epithelial m... OMIM:219800
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia OMIM:150550
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Pelger-Huet Anomaly
Ventricular septal defect, Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Gia... OMIM:169400
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Pericarditis, Leukopenia OMIM:152700
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Thrombocytopenia ORPHA:1237
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Hypophosphatemia OMIM:308990
Pediatric-Onset Graves Disease
Hepatomegaly, Hyperactivity, Craniosynostosis, Splenomegaly, Neutropenia in presence of anti-neut... ORPHA:525731
Congenital Enterovirus Infection
Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocytosis, Hyperammonemia, ... ORPHA:292
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Splenomegaly, Inability to walk, Optic atrophy, Enlarged kidney, Anemia, Leukopenia... OMIM:617303
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Hepatomegaly, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neut... OMIM:251100
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Papilledema, Ventricular septal defect, Elevated circulating creatine kinase concentration, Peric... OMIM:618775
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenome... OMIM:619644
Overlap Myositis
Elevated circulating creatine kinase concentration, Abnormal heart morphology, Leukopenia, Diffic... ORPHA:206572
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Gaucher Disease
Osteopenia, Hepatomegaly, Increased bone mineral density, Pancytopenia, Mitral valve calcificatio... ORPHA:355
Hereditary Fructose Intolerance
Hepatomegaly, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy ORPHA:469
Congenital Disorder Of Glycosylation, Type Iil
Hepatomegaly, Pancytopenia, Ventricular septal defect, Elevated circulating creatine kinase conce... OMIM:614576
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Splenomegaly, Asymmetric septal hypertrophy, Dense calvaria, Dysphag... OMIM:252930
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Snakebite Envenomation
Hyponatremia, Pseudobulbar paralysis, Neuromuscular dysphagia, Thrombocytopenia ORPHA:449285
Stt3B-Cdg
Optic atrophy, Thrombocytopenia ORPHA:370924
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Hyperactivity, Ataxia, Hypouricemia, Autoimmune thrombocytopenia, Ab... ORPHA:760
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Anemia, Perimembranous ventricular s... OMIM:608104
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... ORPHA:98849
Isolated Agammaglobulinemia
Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils ORPHA:229717
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia ... OMIM:603554
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Hypochromic microcytic anemia, Osteopetrosis, Throm... ORPHA:3240
Lysinuric Protein Intolerance
Osteopenia, Decreased HDL cholesterol concentration, Leukopenia, Lethargy, Hepatomegaly, Abnormal... ORPHA:470
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Dilated cardiomyopathy, Osteoporosis, Leukopenia, Neutropenia, Thr... OMIM:613989
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu... ORPHA:91547
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia OMIM:615597
Cholesteryl Ester Storage Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cel... OMIM:278000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... ORPHA:289176
Wars2-Related Combined Oxidative Phosphorylation Defect
Ataxia, Aggressive behavior, Dysmetria, Cardiomyopathy, Athetosis, Difficulty walking, Dysphagia,... ORPHA:572798
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Inability to walk, Thrombocytopenia OMIM:616577
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Neutropenia, Abnormal natural killer cell morphology, Hyponatremia, Ataxi... ORPHA:167
Transaldolase Deficiency
Hepatomegaly, Pancytopenia, Ventricular septal defect, Splenomegaly, Hepatosplenomegaly, Anemia, ... OMIM:606003
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Splenomegaly, Abnormality of the spleen, Thrombocytopenia ORPHA:85212
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Cran... OMIM:301056
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... OMIM:618048
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Inability to walk, Self-injurious behavior, High nonceruloplasmin-bound serum copper, Atrial sept... ORPHA:457351
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Ataxia, Macular coloboma, Megaloblastic anemia, Dilate... ORPHA:79282
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia OMIM:618314
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Citrullinemia Type Ii
Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypercholesterolemia... ORPHA:247585
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia, Hepatomegaly OMIM:619463
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... OMIM:614074
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis, Retinal hemorrhage, Abnormal heart mor... ORPHA:464321
Hepatoportal Sclerosis
Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto... ORPHA:64743
Mirage Syndrome
Hyponatremia, Radial club hand, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, L... OMIM:617053
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Hepatomegaly, Lethargy, Thrombocytopenia OMIM:617397
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Aicardi-Goutieres Syndrome 1
Hepatomegaly, Inability to walk, Splenomegaly, Cardiomyopathy, Self-mutilation, Thrombocytopenia OMIM:225750
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Ataxia, Thrombocytopenia, Osteoporosis, Leukopenia, Increased mean corpuscular v... OMIM:127550
Schimke Immunoosseous Dysplasia
Osteopenia, Waddling gait, Pancytopenia, Thrombocytopenia, Abnormal T cell morphology, Neutropeni... OMIM:242900
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Hepatomegaly, Anorexia, Thrombocytopenia, Reticulocytopenia, ... OMIM:557000
Acute Promyelocytic Leukemia
Pancytopenia, Anorexia, Leukocytosis, Anemia, Leukopenia, Addictive alcohol use, Neutropenia, Thr... ORPHA:520
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Familial Hemophagocytic Lymphohistiocytosis
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A... ORPHA:540
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Dent Disease
Renal hypophosphatemia, Osteomalacia, Elevated circulating creatine kinase concentration, Delayed... ORPHA:1652
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Hepatomegaly, Pancytopenia, Myocardial necrosis, Thrombocytopenia, Persis... OMIM:260400
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Osteopenia, Ataxia, Retinal telangiectasia, Osteoporosis, Optic atrophy, Anemia, Exudative retino... OMIM:612199
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Anorexia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Hepatomegaly, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinoph... ORPHA:331206
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
X-Linked Agammaglobulinemia
Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia ORPHA:47
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Dilated cardiomyopathy, Hyperammonemia, Hypertr... ORPHA:99901
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Dysmetria, Supravalvar pulmonary stenosis, Anemia, Vitre... OMIM:620185
Shwachman-Diamond Syndrome
Osteopenia, Normocytic anemia, Macrocytic anemia, Transient neutropenia, Aplastic anemia, Acute m... ORPHA:811
Oculocerebrorenal Syndrome Of Lowe
Hyponatremia, Hypoammonemia, Osteomalacia, Chorioretinal dysplasia, Thrombocytopenia, Self-injuri... ORPHA:534
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Conjugated hyperbilirubinemia, Atrial septal defect, Patent foramen ov... OMIM:208085
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Juvenile Nephropathic Cystinosis
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce... ORPHA:411634
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Akinesia, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Dysphagia, Thromb... OMIM:608013
21Q22.11Q22.12 Microdeletion Syndrome
Hyperactivity, Tongue thrusting, Anemia, Self-injurious behavior, Stereotypical body rocking, Bru... ORPHA:261323
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect, Thrombocytopenia OMIM:619980
Ebola Hemorrhagic Fever
Leukopenia, Dysphagia, Lethargy, Lymphopenia, Thrombocytopenia ORPHA:319218
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Unsteady gait, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Dysphagia, Thrombocytopenia OMIM:254900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Normocytic anemia, Retinal cotton wool spot, Abnormal retinal vascular morphology, Elevated circu... ORPHA:247691
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Tularemia
Thrombocytopenia, Leukocytosis, Anemia ORPHA:3392
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Primary Fanconi Renotubular Syndrome
Hypouricemia, Osteomalacia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating ... ORPHA:3337
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Giant platelets, Anemia, Left ventricular hypertrophy, Thrombocytopenia OMIM:611209
Hermansky-Pudlak Syndrome 2
Hepatomegaly, Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP... OMIM:608233
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Castleman Disease
Myelofibrosis, Elevated circulating C-reactive protein concentration, Anemia, Decreased mean corp... ORPHA:160
X-Linked Hypophosphatemia
Craniosynostosis, Generalized osteosclerosis, Rickets, Reduced bone mineral density, Hypophosphat... ORPHA:89936
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Immunodeficiency 22
Pericarditis, Retinal vasculitis, Anemia, Decreased proportion of CD4-positive helper T cells, Th... OMIM:615758
Hyperparathyroidism-Jaw Tumor Syndrome
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:99880
Wilson Disease
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... OMIM:277900
Alg12-Cdg
Hyponatremia, Retinal detachment, Muscular ventricular septal defect, Biventricular hypertrophy, ... ORPHA:79324
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Hypocalcemic seizures ORPHA:405
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Inability to walk, Optic atrophy, Enlarged kidney, Hepatospl... ORPHA:505248
Holocarboxylase Synthetase Deficiency
Lethargy, Hyperammonemia, Thrombocytopenia OMIM:253270
Neurodegeneration With Brain Iron Accumulation 1
Motor tics, Hyperactivity, Ataxia, Akinesia, Acanthocytosis, Optic atrophy, Phonic tics, Choreoat... OMIM:234200
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl... OMIM:185070
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Parathyroid Carcinoma
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Polydipsia ORPHA:143
Raine Syndrome
Increased bone mineral density, Subperiosteal bone formation, Hypophosphatemia OMIM:259775
Catastrophic Antiphospholipid Syndrome
Abnormal heart valve morphology, Myocarditis, Retinal arterial occlusion, Coombs-positive hemolyt... ORPHA:464343
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Farber Disease
Osteoporosis, Hepatosplenomegaly, Anemia, Macular degeneration, Cherry red spot of the macula, Th... ORPHA:333
Lysinuric Protein Intolerance
Hepatomegaly, Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Osteopor... OMIM:222700
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Pancytopenia, Retinal atrophy, Elevated circulating creatine kinase concentration, ... ORPHA:2785
Dyskeratosis Congenita, Autosomal Recessive 1
Aplastic anemia, Pancytopenia, Osteoporosis, Thrombocytopenia OMIM:224230
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Mogs-Cdg
Hepatomegaly, Cardiomegaly, Optic atrophy, Hepatosplenomegaly, Atrial septal defect, Left ventric... ORPHA:79330
Kaposiform Lymphangiomatosis
Pericardial effusion, Splenomegaly, Osteolysis, Hepatosplenomegaly, Anemia, Abnormal spleen morph... ORPHA:464329
Congenital Erythropoietic Porphyria
Osteopenia, Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating p... ORPHA:79277
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia, Hepatomegaly OMIM:170100
16Q24.3 Microdeletion Syndrome
Ventricular septal defect, Optic nerve hypoplasia, Dilated cardiomyopathy, Increased mean corpusc... ORPHA:261250
Diamond-Blackfan Anemia
Acute myeloid leukemia, Ventricular septal defect, Pure red cell aplasia, Erythroid hypoplasia, R... ORPHA:124
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Acquired Purpura Fulminans
Elevated circulating C-reactive protein concentration, Thrombocytopenia ORPHA:49566
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Impulsivity, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia, Dysdiadochokines... OMIM:610217
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Eryt... OMIM:612541
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Thrombocytopenia OMIM:611126
Porphyria, Congenital Erythropoietic
Osteopenia, Hemolytic anemia, Hepatomegaly, Splenomegaly, Osteolysis, Elevated circulating uropor... OMIM:263700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Takenouchi-Kosaki Syndrome
Ataxia, Increased mean platelet volume, Optic atrophy, Abnormal cardiac septum morphology, Pulmon... OMIM:616737
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Maternal Uniparental Disomy Of Chromosome 6
Rod-cone dystrophy, Thrombocytopenia ORPHA:96181
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer ... ORPHA:79124
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Ataxia, Anemia ORPHA:3322
Fibular Hemimelia
Craniosynostosis, Abnormal heart morphology, Difficulty walking, Abnormal bone ossification, Thro... ORPHA:93323
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Noonan Syndrome 4
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:610733
Pseudo-Torch Syndrome 1
Splenomegaly, Patent foramen ovale, Thrombocytopenia, Hepatomegaly OMIM:251290
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Hepatomegaly ORPHA:169090
Mucopolysaccharidosis Type 2
Abnormal tricuspid valve morphology, Abnormal repetitive mannerisms, Oppositional defiant disorde... ORPHA:580
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:600901
Shigellosis
Hyponatremia, Anorexia, Myocarditis, Leukocytosis, Abnormal blood ion concentration, Microangiopa... ORPHA:810
Fructose Intolerance, Hereditary
Hepatomegaly, Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Lethargy OMIM:229600
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Sickle Cell Disease
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Ret... OMIM:603903
Q Fever
Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Sple... ORPHA:781
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia... OMIM:251880
Fanconi Anemia, Complementation Group B
Optic disc hypoplasia, Ventricular septal defect, Aplastic anemia, Thrombocytopenia OMIM:300514
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... ORPHA:1830
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Left ventricular hypertrop... ORPHA:31150
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Neutropen... ORPHA:391487
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia OMIM:613987
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Choreoathetosis, Leukopenia, Neutropenia, Thrombocytopenia OMIM:616271
Fanconi Anemia, Complementation Group A
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227650
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia, Hepatomegaly OMIM:616433
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Bacterial Toxic-Shock Syndrome
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... ORPHA:36234
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Hepatomegaly, Attention deficit hyperactivity disorder, Abnor... OMIM:619005
Rift Valley Fever
Retinitis, Anorexia, Retinal hemorrhage, Macular edema, Anemia, Retinal vasculitis, Thrombocytopenia ORPHA:319251
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia,... ORPHA:508542
Sepsis In Premature Infants
Hepatomegaly, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:90051
Opsismodysplasia
Hypophosphatemia OMIM:258480
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Pediatric Systemic Lupus Erythematosus
Pericardial effusion, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia, Thrombocytopenia ORPHA:93552
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Vexas Syndrome
Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia OMIM:301054
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Cyclic Neutropenia
Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Immunodeficiency With Hyper-Igm, Type 1
Hemolytic anemia, Hepatomegaly, Splenomegaly, Neutropenia, Thrombocytopenia OMIM:308230
Gaucher Disease, Type Ii
Hepatomegaly, Splenomegaly, Anemia, Dysphagia, Thrombocytopenia OMIM:230900
Marburg Hemorrhagic Fever
Lymphopenia, Reticulocytosis, Pericarditis, Elevated circulating creatine kinase concentration, H... ORPHA:99826
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic... OMIM:619573
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Osteopenia, Thrombocytopenia OMIM:612394
Adams-Oliver Syndrome
Leukopenia, Tetralogy of Fallot, Abnormal pulmonary valve morphology, Thrombocytopenia ORPHA:974
Idiopathic Hypereosinophilic Syndrome
Myelofibrosis, Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Dilated ... ORPHA:3260
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Myocarditis, Leukocytosis, Leukopenia, Dys... ORPHA:319213
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Hepatomegaly, Decreased circulating copper concentration, Sp... OMIM:300972
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Abnormal heart morphology, Anemia, Attention deficit hyperactivi... OMIM:227646
Brucellosis
Hepatomegaly, Pericarditis, Elevated circulating C-reactive protein concentration, Anorexia, Hype... ORPHA:1304
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Autoimmune hemolytic anemia, Hyperactivity, Retinal pigment epitheli... OMIM:251260
Alport Syndrome 3A, Autosomal Dominant
Azotemia, Hypophosphatemia OMIM:104200
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c... ORPHA:79102
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Dysphagia ORPHA:169105
Fanconi Anemia, Complementation Group C
Pancytopenia, Ventricular septal defect, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thromb... OMIM:227645
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Pancytopenia, Mitral valve calcification, Broad-based gait, Abnormality of the splee... ORPHA:2072
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Kikuchi-Fujimoto Disease
Hepatomegaly, Ataxia, Elevated circulating C-reactive protein concentration, Anorexia, Splenomega... ORPHA:50918
Tick-Borne Encephalitis
Elevated circulating C-reactive protein concentration, Anorexia, Leukocytosis, Leukopenia, Dyspha... ORPHA:297
Diamond-Blackfan Anemia 21
Secundum atrial septal defect, Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Toxic Epidermal Necrolysis
Neutropenia, Anemia, Dysphagia, Abnormal myocardium morphology, Polydipsia, Thrombocytopenia ORPHA:537
22Q11.2 Deletion Syndrome
Ventricular septal defect, Abnormality of thrombocytes, Abnormal pulmonary valve morphology, Reti... ORPHA:567
Leptospirosis
Hepatomegaly, Pericarditis, Papilledema, Anorexia, Retinal hemorrhage, Chorioretinitis, Hyperprot... ORPHA:509
Thrombocytopenia-Absent Radius Syndrome
Abnormal cardiac septum morphology, Tetralogy of Fallot, Thrombocytopenia ORPHA:3320
Dyskeratosis Congenita
Hepatomegaly, Abnormality of neutrophils, Thrombocytopenia, Splenomegaly, Osteoporosis, Anemia, C... ORPHA:1775
Fanconi Anemia, Complementation Group F
Atrial septal defect, Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Dubowitz Syndrome
Abnormality of neutrophils, Craniosynostosis, Acute lymphoblastic leukemia, Anemia, Attention def... ORPHA:235
Hardikar Syndrome
Hepatomegaly, Ventricular septal defect, Hypersplenism, Splenomegaly, Partial anomalous pulmonary... OMIM:301068
Shwachman-Diamond Syndrome 2
Normocytic anemia, Hepatomegaly, Thrombocytopenia, Neutropenia OMIM:617941
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Ataxia, Splenomegaly, Truncal ataxia, Thrombocytopenia OMIM:301072
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Stevens-Johnson Syndrome
Abnormality of neutrophils, Thrombocytopenia, Dysphagia, Abnormal myocardium morphology, Anemia ORPHA:36426
Jacobsen Syndrome
Ventricular septal defect, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma, Atrial sept... OMIM:147791
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Ventricular septal defect, Anemia, Hypocalcemia, Hyperbilirubinemia, Atrial septal defect, Thromb... ORPHA:163979
Liver Disease, Severe Congenital
Cardiomegaly, Leukopenia, Lymphocytosis, Hypocalcemia, Elevated hepatic iron concentration, Atria... OMIM:619991
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology, Hepatomegaly ORPHA:46059
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Severe B lymphocytopenia, Craniosynostosis, Thrombocytopenia, Atrial septal def... OMIM:620005
Ogden Syndrome
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... OMIM:300855
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Abnormal circulating lipid concentration, Enlarged polycystic ovaries, Abnormal... ORPHA:2298
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Hepatomegaly, Pericardial effusion, Splenomegaly, Increased circu... OMIM:615846
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Ataxia, Osteoporosis, Optic atrophy, Anemia, Leukopenia, Th... OMIM:305000
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Cornelia De Lange Syndrome 1
Ventricular septal defect, Optic disc coloboma, Optic atrophy, Self-injurious behavior, Thrombocy... OMIM:122470
Ivic Syndrome
Leukocytosis, Tetralogy of Fallot, Thrombocytopenia OMIM:147750
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Myocarditis, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocyt... ORPHA:544482
Osteogenesis Imperfecta
Osteopenia, Abnormal endocardium morphology, Ataxia, Osteoporosis, Mitral valve prolapse, Decreas... ORPHA:666
Crimean-Congo Hemorrhagic Fever
Hepatomegaly, Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Ano... ORPHA:99827
Caroli Syndrome
Hepatomegaly, Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbiliru... ORPHA:480520
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased... OMIM:617718
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Thrombocytopenia, Reduced bone mineral density, Leuko... ORPHA:84
Deeah Syndrome
Decreased hemoglobin concentration, Hepatomegaly, Dysphagia, Self-mutilation, Thrombocytopenia OMIM:619004
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Optic atrophy, Abnormal heart morphology, Total anomalous pulmona... ORPHA:487796
Histidinemia
Hyperactivity, Hyperhistidinemia ORPHA:2157
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Acute leukemia, Attention deficit hyperactivity di... ORPHA:647
Thrombocytopenia-Absent Radius Syndrome
Ventricular septal defect, Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Atrial septal ... OMIM:274000
Congenital Disorder Of Glycosylation, Type Iiw
Hepatomegaly, Ventricular septal defect, Microcytic anemia, Splenomegaly, Osteoporosis, Anemia, T... OMIM:619525
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Increased serum ... ORPHA:731
Jacobsen Syndrome
Ventricular septal defect, Hypoplastic left heart, Attention deficit hyperactivity disorder, Aort... ORPHA:2308
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Proteasome-Associated Autoinflammatory Syndrome 1
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating... OMIM:256040
Aicardi-Goutières Syndrome
Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal... ORPHA:51
Sarcoidosis
Hemolytic anemia, Hepatomegaly, Eosinophilia, Hypercalcemia, Thrombocytopenia, Increased T cell c... ORPHA:797
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Retinopathy, Thrombocytopenia ORPHA:536
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Attentio... OMIM:188400
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Optic neuritis, Decreased proportion of CD4-p... ORPHA:289390
Acute Liver Failure
Hyperammonemia, Agitation, Ataxia, Thrombocytopenia ORPHA:90062
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Pancreatic hyperplasia, Leukocy... ORPHA:99829
Roberts Syndrome
Thrombocytopenia, Craniosynostosis ORPHA:3103
Igg4-Related Dacryoadenitis And Sialadenitis
Optic nerve compression, Abnormal optic nerve morphology, Thrombocytopenia ORPHA:79078
Noonan Syndrome 1
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Ventricular septal defect, Pu... OMIM:163950

Histopathology

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

There is no histopathology data for Ier5l

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ier5l.

No publications found that use IMPC mice or data for Ier5l.

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MGI Allele Allele Type Produced
Ier5lem1(IMPC)J Exon Deletion Mice

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