Gene Summary

Name:
Rho/Rac guanine nucleotide exchange factor 2
Synonyms:
Lbcl1,  GEF-H1,  LFP40,  P40,  GEFH1,  Lfc

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
decreased brain size Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
abnormal spleen morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
small liver Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
increased circulating total protein level Arhgef2em1(IMPC)Mbp HOM Early adult 3.50×10-05
increased circulating alkaline phosphatase level Arhgef2em1(IMPC)Mbp HOM Early adult 2.13×10-06
increased circulating serum albumin level Arhgef2em1(IMPC)Mbp HOM Early adult 4.22×10-05
abnormal liver morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
abnormal retina morphology Arhgef2em1(IMPC)Mbp HOM   Early adult 6.91×10-05
abnormal skin morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
abnormal brain morphology Arhgef2em1(IMPC)Mbp HOM Early adult 0.00
thrombocytopenia Arhgef2em1(IMPC)Mbp HOM Early adult 9.14×10-06

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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

48 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

Human diseases caused by Arhgef2 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.

The table below shows human diseases associated to Arhgef2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Cerebellar vermis hypoplasia, Primary microcephaly, Hypoplasia of the pons OMIM:617523

The table below shows human diseases predicted to be associated to Arhgef2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Lissencephaly 1
Secondary microcephaly, Agyria, Gray matter heterotopia, Abnormal cerebral white matter morpholog... OMIM:607432
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Hypoplasia of the corpus callosum, Thin corpus callosum, Cortical dysplasia, Agyria, Gray matter ... OMIM:615411
Microlissencephaly
Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Cerebellar atrophy, T... ORPHA:1083
Lissencephaly 3
Hypoplasia of the corpus callosum, Cerebellar vermis hypoplasia, Polymicrogyria, Agyria, Gray mat... OMIM:611603
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Periventricular ribbonlike heterotopia, Thick cerebral cortex,... OMIM:618677
Neurodevelopmental Disorder With Microcephaly, Cortical Malformations, And Spasticity
Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Cerebellar atrophy, Cerebral... OMIM:618730
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Increased serum bile acid concentration, Elevated circul... OMIM:619868
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Periventricular nodula... OMIM:608097
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count,... ORPHA:158048
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Hypoplasia of the corpus callosum, Lissencephaly, Cerebellar vermis hypoplasia, Polymicrogyria, M... OMIM:610031
Sodium-Dependent Multivitamin Transporter Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Cerebellar atrophy, Microcep... OMIM:618973
Polymicrogyria Due To Tubb2B Mutation
Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi... ORPHA:300573
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Gray matter hetero... OMIM:604213
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Microcephaly, Cerebellar hypoplasia, Periventricular nodular heterotopia OMIM:618572
Sub-Cortical Nodular Heterotopia
Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Abnormality... ORPHA:101029
Periventricular Nodular Heterotopia 8
Cerebellar vermis atrophy, Periventricular nodular heterotopia, Reduced cerebral white matter volume OMIM:618185
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti... OMIM:614039
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Recurrent infections, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary... ORPHA:171703
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Type II lissencephaly OMIM:615041
Niemann-Pick Disease, Type B
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Sea-blue histiocytosis, Anemia, He... OMIM:607616
Lissencephaly 5
Hypoplasia of the corpus callosum, Macrocephaly, Cerebellar vermis hypoplasia, Type II lissenceph... OMIM:615191
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Thin corpus callosum, Cerebellar vermis hypoplasia, Cortical dysplasia, Hypoplasia of the brainst... OMIM:615771
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Lymphadenopathy, Thromboc... OMIM:603552
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased circulating creatine kinase MM isoform, Elevated circulating alanine aminotransferase c... OMIM:613752
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Type II lissencephaly, Gray matter heterotopia, Abnormal cerebral white matter morpholo... ORPHA:352682
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Jaundice, Anemia, Hemophagocytosis... OMIM:267700
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Macrocephaly, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Abnormality ... OMIM:618709
Multiple Myeloma
Anemia, Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating crea... ORPHA:29073
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoproteinemia, Hypoplasia of the thym... OMIM:603554
Leptospirosis
Jaundice, Hepatomegaly, Lymphadenopathy, Optic neuritis, Chorioretinitis, Macular cotton wool spo... ORPHA:509
Diarrhea 13
Hypoalbuminemia, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypertriglyceridemia, Jaundice, Anemia, Hemophagocytosis, Hepatomegaly, Pancytopenia, Lymphadenop... OMIM:603553
Gaisböck Syndrome
Hypertriglyceridemia, Increased red blood cell count, Elevated plasma cell count, Increased mean ... ORPHA:90041
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Malaria
Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Retinopathy, T... ORPHA:673
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, El... OMIM:308240
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Immunodeficiency 27A
Anemia, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged mesenteric lymp... OMIM:209950
Lissencephaly, X-Linked, 1
Agyria, Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Lissencephaly OMIM:300067
Immunodeficiency 115 With Autoinflammation
Intestinal lymphangiectasia, Anemia, Elevated circulating C-reactive protein concentration, Eleva... OMIM:620632
Refractory Celiac Disease
Normocytic anemia, Elevated circulating hepatic transaminase concentration, Iron deficiency anemi... ORPHA:398063
Lissencephaly 2
Thick cerebral cortex, Microcephaly, Hypoplasia of the pons, 4-layered lissencephaly, Cerebellar ... OMIM:257320
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Tubulinopathy-Associated Dysgyria
Macrocephaly, Cerebellar vermis hypoplasia, Dysgyria, Abnormality of the internal capsule, Abnorm... ORPHA:467166
Bilateral Striopallidodentate Calcinosis
Abnormality of the liver, Hepatomegaly, Thrombocytopenia ORPHA:1980
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter heterotopia, Microcephaly, Abnorma... OMIM:604317
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Intestinal lymphangiectasia, Hypoproteinemia, Lymphopenia OMIM:207731
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Agyria, Gray matter heterotopia, Pachygyria ORPHA:1084
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Hypoalbuminemi... OMIM:226990
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia, Chorioretinal coloboma, Lymphopenia ORPHA:1116
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Intestinal lymphangiectasia, Lymphopenia OMIM:152800
Macrophage Activation Syndrome
Hypertriglyceridemia, Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal ... ORPHA:158061
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Intestinal lymphangiectasia, Anemia, Iron deficiency anemia, Hepatomegaly, Hypoproteinemia, Hypoa... OMIM:226300
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Anemia, Hemophagocytosis, Lymphadenopathy, Thrombocytopenia, Splenomegaly, ... OMIM:613101
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypocholesterolemia, Hypersplenism OMIM:610539
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ... ORPHA:210136
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa... ORPHA:255182
Autoinflammation With Infantile Enterocolitis
Increased circulating ferritin concentration, Anemia, Elevated circulating C-reactive protein con... OMIM:616050
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Thrombocytopenia, Hemolytic anemia OMIM:615008
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Jaundice, Hepatomegaly, Microvesicular hepatic steatosis, Cholestasis, Elevated cir... OMIM:618528
Bilateral Frontoparietal Polymicrogyria
Increased head circumference, Cerebral dysmyelination, Cerebellar vermis hypoplasia, Cortical dys... ORPHA:101070
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cerebellar atrophy, Microcephaly, Hypoplasia of the pons, Simplified gyral patt... OMIM:616171
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Hypoalbu... OMIM:618805
Alg6-Cdg
Jaundice, Decreased LDL cholesterol concentration, Abnormality of the liver, Hypoalbuminemia, Ret... ORPHA:79320
Fetal Cytomegalovirus Syndrome
Optic atrophy, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentr... ORPHA:294
Maternal Hyperthermia-Induced Birth Defects
Microcephaly, Abnormality of neuronal migration ORPHA:2216
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations
Cerebellar vermis hypoplasia, Simplified gyral pattern, Cerebellar hypoplasia, Thick corpus callo... OMIM:618273
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, N... OMIM:615285
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Hepatomegaly, Leukopenia ORPHA:99828
Refractory Anemia With Excess Blasts
Abnormal circulating albumin concentration, Acute myeloid leukemia, Abnormal circulating protein ... ORPHA:86839
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cerebellar cyst, Dandy-Walker malformation, Type II lissencephaly, Agyria, Hypoplasia of the pons... OMIM:613153
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hepatomegaly, Pancreatitis, Elevat... ORPHA:247585
Joubert Syndrome 30
Molar tooth sign on MRI, Dandy-Walker malformation, Polymicrogyria, Cerebellar atrophy, Gray matt... OMIM:617622
Immunodeficiency 43
B lymphocytopenia, Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbumin... OMIM:241600
Preeclampsia/Eclampsia 1
Elevated circulating hepatic transaminase concentration, Thrombocytopenia OMIM:189800
Primary Intestinal Lymphangiectasia
Peritoneal effusion, Intestinal lymphangiectasia, Anemia, Decreased proportion of CD3-positive T ... ORPHA:90362
Symmetrical Thalamic Calcifications
Microcephaly, Cerebral calcification, Abnormality of neuronal migration ORPHA:1314
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, H... OMIM:615895
Congenital Disorder Of Glycosylation, Type Iik
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating alanine am... OMIM:614727
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Leukopenia, Splenomegaly, Acute he... OMIM:278000
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly... OMIM:619013
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Hypoplasia of the... OMIM:615181
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Photoreceptor layer loss on macular OCT, Retinal... OMIM:616959
3-Hydroxyisobutyric Aciduria
Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification OMIM:236795
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Transaldolase Deficiency
Cirrhosis, Anemia, Abnormal circulating glutamine concentration, Increased serum bile acid concen... ORPHA:101028
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... OMIM:251880
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hypertriglyceridemia, Increased circulating ferritin concentration, Anemia, Acute myeloid leukemi... ORPHA:158057
Septopreoptic Holoprosencephaly
Megalencephaly, Abnormal septum pellucidum morphology, Rhombencephalosynapsis, Abnormal corpus ca... ORPHA:280195
Lissencephaly 6 With Microcephaly
Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Cerebellar atrophy, Microc... OMIM:616212
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Hyperammonemia, Thrombocytopenia, Splenomegaly... ORPHA:79312
Periventricular Nodular Heterotopia 1
Hypoplasia of the corpus callosum, Thin corpus callosum, Recurrent infections, Gray matter hetero... OMIM:300049
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Abnormal brainstem morphology, Optic nerve hypoplasia, Type II lissencephaly, Po... ORPHA:370959
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Aicardi-Goutieres Syndrome 3
Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Beta-Thalassemia
Hepatomegaly, Anemia, Abnormality of iron homeostasis, Cholelithiasis, Thrombocytopenia, Splenome... ORPHA:848
Thrombocytopenia 7
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Reduce... OMIM:619130
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Abnormal brainstem morphology ORPHA:1532
Gray Platelet Syndrome
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly ORPHA:721
Congenital Toxoplasmosis
Jaundice, Anemia, Hepatomegaly, Lymphadenopathy, Elevated circulating hepatic transaminase concen... ORPHA:858
Immunodeficiency 114, Folate-Responsive
Hypertriglyceridemia, Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphop... OMIM:620603
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly OMIM:615085
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Retinopathy, Thrombocytopenia,... ORPHA:158029
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Hypoplasia of the corpus callosum, Progressive microcephaly, Atrophy/Degenerati... OMIM:613477
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Hypertriglyceridemia, Decreased liver function, Jaundice, Anemia, Hemo... ORPHA:540
Aicardi-Goutieres Syndrome 6
Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Abnormal cerebral cortex morphology, Simplified gyral pattern ORPHA:411493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormal periventricular white matter morphology, Abnormality of neuronal migration, Pachygyria, ... OMIM:608840
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Elevated ci... OMIM:620481
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Hepatomegaly, Pancreatitis, Anemia, Hyperammonemia, Thrombocytopenia, Neutropenia ORPHA:289916
Amegakaryocytic Thrombocytopenia, Congenital, 1
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Lissencephaly Due To Tuba1A Mutation
Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Cerebellar vermis hypoplasia, Opti... ORPHA:171680
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly, Optic disc ... OMIM:611490
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Focal Segmental Glomerulosclerosis 1
Hypoalbuminemia, Hyperlipidemia, Anemia OMIM:603278
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Hepatomegaly, Anemia, Pancreatitis, Macrocytic anemia, Hyperammonemia, Thrombocyto... ORPHA:27
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Splenomegaly, Pulmonary... OMIM:235255
Mpi-Cdg
Decreased liver function, Hepatomegaly, Portal hypertension, Hypoalbuminemia, Hepatic fibrosis ORPHA:79319
Chédiak-Higashi Syndrome
Hypertriglyceridemia, Decreased liver function, Elevated circulating hepatic transaminase concent... ORPHA:167
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Congenital Disorder Of Glycosylation, Type Ih
Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Thrombocytopenia, Hypoalbuminemia, E... OMIM:608104
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Poretti-Boltshauser Syndrome
Cerebellar cyst, Cerebellar vermis hypoplasia, Gray matter heterotopia, Abnormal periventricular ... OMIM:615960
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Congenital Muscular Dystrophy Without Intellectual Disability
Cerebellar cyst, Cerebellar atrophy, Gray matter heterotopia, Microcephaly, Abnormal cerebral whi... ORPHA:370980
Ménétrier Disease
Hypoalbuminemia, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Band Heterotopia
Macrocephaly, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Subcortical b... OMIM:600348
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hypercholesterolemia, Hyperlipidemia OMIM:615863
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Drusen ORPHA:54370
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Decreased HDL cholesterol concent... ORPHA:247598
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callos... ORPHA:2512
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoplasia of the corpus callosum, Cerebellar cyst, Cerebellar vermis hypoplasia, Polymicrogyria,... ORPHA:370997
Congenital Disorder Of Glycosylation, Type Ib
Cirrhosis, Lymphangiectasis, Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Hepatic failure OMIM:602579
Lissencephaly 9 With Complex Brainstem Malformation
Hypoplasia of the corpus callosum, Enlarged tectum, Cerebellar vermis hypoplasia, Cerebellar hemi... OMIM:618325
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Exocrine pancreatic insufficiency OMIM:260450
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Thromb... OMIM:617021
Lissencephaly Syndrome, Norman-Roberts Type
Hypoplasia of the corpus callosum, Cerebral calcification, Microlissencephaly, Cerebellar atrophy... ORPHA:89844
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia OMIM:221400
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypertriglyceridemia, Increased circulating ferritin concentration, Impaired lymphocyte transform... OMIM:619313
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Inferior cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, A... ORPHA:370022
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Hepatosplenomegaly, Spl... ORPHA:1655
Liver Failure, Infantile, Transient
Jaundice, Macrovesicular hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transamina... OMIM:613070
Congenital Disorder Of Glycosylation, Type Ij
Elevated circulating hepatic transaminase concentration, Jaundice, Hypoproteinemia OMIM:608093
Erythroderma, Lethal Congenital
Hypoalbuminemia OMIM:227090
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... ORPHA:367
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia ORPHA:88643
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Hypoplasia of the corpus callosum, Focal cortical dysplasia, Cerebellar vermis hypoplasia, Microc... OMIM:613155
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hypoproteinemia, Hyperlipidemia OMIM:256300
Diffuse Neonatal Hemangiomatosis
Hypercalcemia, Thrombocytopenia, Hepatomegaly, Anemia ORPHA:2123
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Ravine Syndrome
Abnormal brainstem morphology, Abnormal basal ganglia morphology, Atrophy/Degeneration affecting ... ORPHA:99852
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Congenital Enterovirus Infection
Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, Hyperammonemi... ORPHA:292
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Reduced haptoglobin level, Elevated circulatin... OMIM:210250
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Increased circulating ferritin concentration, ... OMIM:619802
Babesiosis
Jaundice, Hepatomegaly, Thrombocytopenia, Leukopenia, Splenomegaly, Hemolytic anemia, Hepatic fai... ORPHA:108
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Pyruvate Dehydrogenase E1-Beta Deficiency
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ... ORPHA:255138
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocalcemia, Hy... ORPHA:26793
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Wolcott-Rallison Syndrome
Hepatomegaly, Jaundice, Iron deficiency anemia, Elevated circulating hepatic transaminase concent... ORPHA:1667
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal basal ganglia morphology, Abnormal brainstem MRI signal intensity, Small basal ganglia ORPHA:263410
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Perisylvian polymicrogyria, Cerebellar dyspl... OMIM:616531
Stormorken Syndrome
Anemia, Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Hypopl... OMIM:185070
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Fanconi Anemia, Complementation Group V
Anemia, Bone marrow hypocellularity, Thrombocytopenia, Elevated circulating alpha-fetoprotein con... OMIM:617243
Immunodeficiency 91 And Hyperinflammation
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade... OMIM:619644
Hemimegalencephaly
Hyperintensity of cerebral white matter on MRI, Macrocephaly, Polymicrogyria, Gray matter heterot... ORPHA:99802
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Leu... ORPHA:457077
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Gaucher Disease Type 1
Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Cholelithiasis, Pancyto... ORPHA:77259
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Abnormal neutrophil count, Lymphadenopathy, Myeloproliferative diso... ORPHA:3226
Intellectual Developmental Disorder, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Macrocephaly, Recurrent otitis media, Dysgenesis of the cerebe... OMIM:617751
Primary Myelofibrosis
Hepatomegaly, Anemia, Lymphadenopathy, Pancytopenia, Extramedullary hematopoiesis, Leukocytosis, ... ORPHA:824
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Developmental And Epileptic Encephalopathy 99
Frontotemporal cerebral atrophy, Thin corpus callosum, Atrophy/Degeneration affecting the brainst... OMIM:619606
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Cirrhosis, Elevated circulating hepatic transaminase concentration, Increased serum bile acid con... OMIM:242150
Rhabdoid Tumor
Anemia, Lymphadenopathy, Hypercalcemia, Thrombocytopenia, Neoplasm of the liver ORPHA:69077
Griscelli Syndrome
Abnormal circulating lipid concentration, Jaundice, Hepatomegaly, Lymphadenopathy, Bone marrow hy... ORPHA:381
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Johanson-Blizzard Syndrome
Exocrine pancreatic insufficiency, Hypoproteinemia, Anemia, Abnormality of the pancreas ORPHA:2315
Vici Syndrome
Recurrent infections, Gray matter heterotopia, Hypoplasia of the pons, Cerebral cortical atrophy,... ORPHA:1493
Cog4-Cdg
Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen... ORPHA:263501
Mucopolysaccharidosis-Plus Syndrome
Optic atrophy, Hepatomegaly, Anemia, Macrovesicular hepatic steatosis, Chorioretinal hypopigmenta... OMIM:617303
Microphthalmia-Brain Atrophy Syndrome
Atrophy/Degeneration affecting the brainstem, Cerebellar vermis atrophy, Corpus callosum atrophy,... ORPHA:77299
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
S-Adenosylhomocysteine Hydrolase Deficiency
Elevated circulating hepatic transaminase concentration, Abnormal circulating homocysteine concen... ORPHA:88618
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormality of retinal pigmentation, Thrombocytopenia, Splenomegaly ORPHA:290
Avian Influenza
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:454836
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia OMIM:616738
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Intrahepatic cholestasis, Jaundice, Elevated circulating alanine aminot... OMIM:617093
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Microcephaly, Abnormality of neuronal migration ORPHA:2204
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:608776
Brain Small Vessel Disease 2
Polymicrogyria, Subcortical heterotopia, Schizencephaly, Porencephalic cyst OMIM:614483
Mevalonic Aciduria
Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating C-reactive protein concen... OMIM:610377
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia, Increased alpha-globulin, Hypercholesterolemia ORPHA:86816
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Non-Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141179
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Congenital Disorder Of Glycosylation, Type Iii
Cerebral atrophy, Atrophy/Degeneration affecting the brainstem, Cerebellar atrophy, Microcephaly OMIM:613612
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Thrombocytopenia, Macrothrombocytopenia OMIM:124900
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:614576
Relapsing Fever
Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulating C... ORPHA:91547
Caroli Syndrome
Cirrhosis, Jaundice, Intrahepatic cholestasis, Cholangitis, Pancreatitis, Hepatomegaly, Liver abs... ORPHA:480520
Chylomicron Retention Disease
Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hypotriglyceridemia OMIM:246700
Acalvaria
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:945
Bleeding Disorder, Platelet-Type, 22
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Thromb... OMIM:618462
Joubert Syndrome 32
Abnormal cerebellum morphology, Polymicrogyria, Molar tooth sign on MRI, Macrocephaly OMIM:617757
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Thrombocytopenia, Impaired epinephrine-induced pl... OMIM:173590
Congenital Lethal Erythroderma
Hypoalbuminemia ORPHA:1954
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
Systemic Lupus Erythematosus 17
Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Wilson Disease
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Aicardi-Goutieres Syndrome 9
Optic atrophy, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Cho... OMIM:619487
Thrombocytopenia 9
Thrombocytopenia, Abnormal platelet aggregation OMIM:620478
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Microcephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum ORPHA:2772
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Alg1-Cdg
Decreased liver function, Hypoalbuminemia ORPHA:79327
Eosinophilic Gastroenteritis
Anemia, Elevated circulating C-reactive protein concentration, Leukocytosis, Eosinophilia, Hypoal... ORPHA:2070
Gaucher Disease, Type I
Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Hypersplenism, Macular atrophy OMIM:230800
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Hypoplasia of the corpus callosum, Macrocephaly, Lissencephaly, Optic nerve hypoplasia, Type II l... OMIM:614643
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Anemia, Leukemia, Neutropenia OMIM:614082
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Rapidly Involuting Congenital Hemangioma
Hepatic hemangioma, Thrombocytopenia ORPHA:141184
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating polysaccharide concentration, Abnormal circulating protein ... ORPHA:103910
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Thrombocytopenia, Monocytosis, Anemia, Neutropenia OMIM:620534
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Galloway-Mowat Syndrome 8
Hypoalbuminemia OMIM:618349
Fetal Gaucher Disease
Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly ORPHA:85212
Intellectual Developmental Disorder, X-Linked 12
Cerebellar vermis hypoplasia, Microcephaly, Abnormal cerebellum morphology, Abnormality of neuron... OMIM:300957
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog... ORPHA:100026
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Decreased liver function, Chorioretinal hyperpigmentation, Macrovesicular hepatic ... OMIM:618329
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Microangiopathic hemolytic anemia, Thrombocytopenia, Reticulocytosis ORPHA:54057
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Cirrhosis, Jaundice, Hepatomegaly, Hypercholesterolemia... ORPHA:186
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Leber Congenital Amaurosis
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellar vermis ORPHA:65
Transaldolase Deficiency
Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Hepato... OMIM:606003
Ataxia-Pancytopenia Syndrome
Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro... OMIM:159550
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Decreased HDL cholesterol concentration, Elevated circulating he... ORPHA:14
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Hypercholesterolemia, Decreased circulating copper co... OMIM:300972
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r... OMIM:620367
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abnormal CD4:CD8... OMIM:150550
Trichohepatoenteric Syndrome 1
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of iron homeostasis, Hypermethioninemia, Cholestas... OMIM:222470
Hypomelanosis Of Ito
Microcephaly, Cerebral atrophy, Macrocephaly, Gray matter heterotopia OMIM:300337
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Sideroblastic anemia, Thrombocytopenia, Retinal degenerat... OMIM:249270
Aggressive Systemic Mastocytosis
Decreased liver function, Anemia, Increased proportion of CD25+ mast cells, Lymphadenopathy, Panc... ORPHA:98850
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Hypertyrosinemia, M... OMIM:617156
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Thromb... OMIM:618048
Chronic Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529808
Acute Bilirubin Encephalopathy
Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbilirubinemia, Hypoalbuminemia, Hemolyt... ORPHA:529799
3-Methylglutaconic Aciduria Type 4
Decreased liver function, Thrombocytopenia ORPHA:67048
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the corpus callosum, Macrocephaly, Recurrent otitis media, Polymicrogyria, Abnormal... ORPHA:500159
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Biparietal narrowing, Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migration,... ORPHA:2518
Liver Disease, Severe Congenital
Elevated circulating hepatic transaminase concentration, Lymphocytosis, Hypoproteinemia, Biliary ... OMIM:619991
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, Neutropenia OMIM:598500
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Peritonitis, Hypoalbuminemia, Hyp... ORPHA:567548
Hermansky-Pudlak Syndrome 9
Abnormal platelet aggregation, Thrombocytopenia, Leukopenia, Hypopigmentation of the fundus, Ocul... OMIM:614171
Walker-Warburg Syndrome
Abnormal cortical gyration, Macrocephaly, Lissencephaly, Dandy-Walker malformation, Polymicrogyri... ORPHA:899
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Primary Sclerosing Cholangitis
Cirrhosis, Jaundice, Abnormal biliary tract morphology, Pancreatitis, Cholelithiasis, Hepatomegal... ORPHA:171
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating C-reactive protein concentration, Elevated circulating creatine kina... ORPHA:231111
Propionic Acidemia
Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyperglycinem... OMIM:606054
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Thrombocytopenia, Splenomegaly OMIM:259700
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Normochromic anemia, Elevated circulating creatine kinase concentration, Papilled... OMIM:618775
Galloway-Mowat Syndrome 6
Hypoalbuminemia OMIM:618347
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Megaloblastic anemia, Thrombocytopenia, Retinal dystrophy ORPHA:49827
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Fanconi Anemia, Complementation Group T
Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:616435
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Generalized Pustular Psoriasis
Elevated circulating hepatic transaminase concentration, Elevated circulating C-reactive protein ... ORPHA:247353
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Peritonitis ORPHA:656
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transam... OMIM:617591
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Amoebiasis Due To Entamoeba Histolytica
Liver abscess, Elevated circulating hepatic transaminase concentration, Anemia, Leukocytosis, Hyp... ORPHA:67
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Jaundice, Hepatomegaly, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th... OMIM:613839
Isolated Agammaglobulinemia
Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp... ORPHA:229717
Wiskott-Aldrich Syndrome 2
Thrombocytopenia, Decreased proportion of CD8-positive T cells OMIM:614493
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Autoimmune hemolytic anemia, Elevated circulating hepatic transaminase concentration, Iron defici... ORPHA:37042
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets OMIM:137560
X-Linked Agammaglobulinemia
Anemia, Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Thrombocyt... ORPHA:47
Wilson Disease
Portal fibrosis, Acute hepatic failure, Splenomegaly, High nonceruloplasmin-bound serum copper, H... OMIM:277900
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased circulating carnitine concentr... ORPHA:99901
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Pancreatitis, Methylmalonic acidemia, Hyperammonemia, Thrombocytopenia, Leukopenia,... OMIM:251000
Subependymal Nodular Heterotopia
Polymicrogyria, Gray matter heterotopia, Abnormality of neuronal migration, Focal cortical dyspla... ORPHA:101030
Preeclampsia
Elevated circulating hepatic transaminase concentration, Elevated circulating creatinine concentr... ORPHA:275555
Methylmalonic Aciduria, Cblb Type
Elevated circulating methylmalonylcarnitine concentration, Hepatomegaly, Anemia, Methylmalonic ac... OMIM:251110
Cerebral Palsy, Spastic Quadriplegic, 3
Microcephaly, Gray matter heterotopia OMIM:617008
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hepatic failure ORPHA:49566
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Dandy-Walker malformation, Abnormal brainstem morphology, Agenesis ... ORPHA:163961
Castleman Disease
Jaundice, Anemia, Mediastinal lymphadenopathy, Lymphadenopathy, Elevated circulating C-reactive p... ORPHA:160
Bernard-Soulier Syndrome
Macrothrombocytopenia, Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet ag... OMIM:231200
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo... ORPHA:88
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Cirrhosis, Thrombocytopenia, Pancytopenia OMIM:613987
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
20Q11.2 Microdeletion Syndrome
Brainstem dysplasia ORPHA:444051
Chediak-Higashi Syndrome
Jaundice, Neutropenia, Hemophagocytosis, Anemia, Hepatomegaly, Lymphadenopathy, Leukopenia, Splen... OMIM:214500
Congenital Disorder Of Glycosylation, Type Ia
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hypoa... OMIM:212065
Prolidase Deficiency
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Thrombocytopenia, Splenomegaly, Elevated circu... OMIM:170100
Tetrasomy 18P
Microcephaly, Abnormality of neuronal migration ORPHA:3307
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... ORPHA:331206
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Increased circulating ferritin concentration, Congenital thr... OMIM:618886
Zika Virus Disease
Optic disc hypoplasia, Chorioretinal atrophy, Abnormal optic disc morphology, Thrombocytopenia, A... ORPHA:448237
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi... OMIM:304790
Tularemia
Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopathy, Anemia, Leukocytosis, Thr... ORPHA:3392
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Bone Marrow Failure Syndrome 4
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:618116
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto... OMIM:308230
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Abnormality of neuronal migration, Chiari malformation, Aplasia/Hypopl... ORPHA:2481
Oculocerebrocutaneous Syndrome
Hypoplasia of the corpus callosum, Dandy-Walker malformation, Gray matter heterotopia, Agenesis o... OMIM:164180
Thrombotic Thrombocytopenic Purpura, Hereditary
Jaundice, Reticulocytosis, Increased blood urea nitrogen, Prolonged neonatal jaundice, Thrombocyt... OMIM:274150
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Reticulocytosis, Bone marrow hypocellula... ORPHA:699
Alkuraya-Kucinskas Syndrome
Macrocephaly, Dandy-Walker malformation, Gray matter heterotopia, Kinked brainstem, Cerebellar dy... OMIM:617822
Reni Syndrome
Hypertriglyceridemia, Hypoalbuminemia, Lymphopenia OMIM:617575
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Anemia, Pancytopenia, Hepatosplenomegaly, Thrombocytopenia, Extramedullary hematop... OMIM:259710
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla... OMIM:139090
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Hepatomegaly, Anemia, Hypochromic microcytic anemia, Pancytopenia, Hypocalcemia, H... OMIM:259720
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hypoplasia of the pons, Midline brainstem cleft, Agenesis of corpus callosum, Abnormality of the ... OMIM:617542
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Anemia, Pancytopenia, Hyperuricemia, Increased blood urea nitrogen, Hyponatremia, Thrombocytopeni... OMIM:613845
Bacterial Toxic-Shock Syndrome
Hypocalcemia, Increased circulating myelocyte count, Elevated circulating creatine kinase concent... ORPHA:36234
Developmental Delay With Variable Neurologic And Brain Abnormalities
Microcephaly, Thin corpus callosum, Gray matter heterotopia OMIM:619694
Al Amyloidosis
Hepatomegaly, Anemia, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnorma... ORPHA:85443
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ADP-induced platelet aggregation, Hemolytic anemia, Increased mean platelet volume, Impa... OMIM:153670
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Jaundice, Anemia, Hepatomegaly, Abnormal natural killer cell count, Pancytopenia, Elevated circul... ORPHA:79124
Gracile Bone Dysplasia
Hypocalcemia, Hypoplastic spleen, Asplenia OMIM:602361
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Cholestatic liver disease, Jaundice, Giant cell hepatitis, Elevated circulating hepatic transamin... OMIM:208085
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Boutonneuse Fever
Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Thrombocytopenia, Leuko... ORPHA:83313
Mirage Syndrome
Hyperkalemia, Anemia, Hyponatremia, Hypoplastic spleen, Thrombocytopenia, Leukopenia, Lymphopenia OMIM:617053
Pierson Syndrome
Retinal detachment, Hypoproteinemia, Remnants of the hyaloid vascular system, Retinal hemorrhage,... OMIM:609049
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Reduced haptoglobin level, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Ele... OMIM:301110
Alg8-Cdg
Optic atrophy, Anemia, Elevated circulating hepatic transaminase concentration, Retinopathy, Hypo... ORPHA:79325
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration, Elevat... ORPHA:64753
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit... ORPHA:47612
Immunodeficiency 46
Anemia, Intermittent thrombocytopenia, Neutropenia OMIM:616740
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Normochromic anemia, Hyperhomocystinemia, Elevated circulating propionylc... OMIM:614857
Glutathionuria
Gray matter heterotopia, Agenesis of corpus callosum OMIM:231950
Methylmalonic Aciduria, Cbla Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Thrombocytopenia, Hyp... OMIM:251100
Pseudo-Torch Syndrome 1
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:251290
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El... OMIM:300835
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum ORPHA:79279
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Anemia, Bone marrow hypocellularity, Abnormality of retinal pigmentation, Leukopen... ORPHA:505248
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia ORPHA:169090
Myh9-Related Disease
Neutrophil inclusion bodies, Elevated circulating hepatic transaminase concentration, Giant plate... ORPHA:182050
Chronic Visceral Acid Sphingomyelinase Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hepatomegaly, Decrease... ORPHA:77293
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Immunodeficiency 40
Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con... OMIM:616433
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Loss of Purkinje cel... ORPHA:98755
Periventricular Nodular Heterotopia 7
Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Gray matter heterotopia, P... OMIM:617201
Cyclic Neutropenia
Lymphadenopathy, Recurrent tonsillitis, Lymphopenia, Thrombocytopenia, Peritonitis, Decreased eos... ORPHA:2686
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Letterer-Siwe Disease
Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia OMIM:246400
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Hepatomegaly, Anemia, Methylmalonic acidemia, Pancytopenia, Hyperhomocystinemia, Megaloblastic an... OMIM:277380
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612926
Amed Syndrome, Digenic
Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia OMIM:619151
Isovaleric Acidemia
Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Pancytopenia OMIM:243500
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612924
Sepsis In Premature Infants
Decreased liver function, Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein... ORPHA:90051
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Optic nerve hypoplasia, El... OMIM:301056
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l... ORPHA:98849
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Biparietal narrowing, Abnormality of neuro... ORPHA:2318
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Hypercholesterolemia OMIM:616730
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Thrombocytopenia, Leukocytosis ORPHA:83601
Lysinuric Protein Intolerance
Hepatomegaly, Anemia, Hemophagocytosis, Pancreatitis, Intraalveolar phospholipid accumulation, Hy... OMIM:222700
Overlap Myositis
Abnormal circulating lipid concentration, Elevated circulating hepatic transaminase concentration... ORPHA:206572
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Pearson Marrow-Pancreas Syndrome
Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ... OMIM:557000
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Hepatomegaly, Neutropenia, Impaired ADP-induced platelet aggregat... OMIM:608233
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Increased circulating ferritin concentration, Hypochromic microcytic anemia ORPHA:3240
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathic hemolytic anemia, Eleva... OMIM:612925
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat... OMIM:614946
Pseudo-Torch Syndrome 2
Cerebral calcification, Polymicrogyria, Gray matter heterotopia, Microcephaly, Cerebellar hypoplasia OMIM:617397
Stt3B-Cdg
Optic atrophy, Thrombocytopenia ORPHA:370924
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Aregenerative Anemia
Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,... ORPHA:101096
Lysinuric Protein Intolerance
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... ORPHA:470
Atelis Syndrome 1
Thrombocytopenia, Leukopenia, Anemia OMIM:620184
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind... OMIM:617443
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Retinal detachment, B lymphocytopenia, H... ORPHA:79324
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Congenital Disorder Of Glycosylation, Type Ix
Optic atrophy, Thrombocytopenia OMIM:615597
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Type II lissencephaly, Dandy-Walker ma... OMIM:236670
Specific Granule Deficiency 2
Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia OMIM:617475
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Macrocephaly ORPHA:44
Xfe Progeroid Syndrome
Optic atrophy, Hypoalbuminemia, Attenuation of retinal blood vessels, Elevated circulating hepati... OMIM:610965
Bone Marrow Failure Syndrome 3
Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Retinal dystrophy, Reti... OMIM:617052
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cerebellar cyst, Type II lissencephaly, Microcephaly, Cerebellar dysplasia, Partial absence of ce... OMIM:613150
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Hypoplasia of the corpus callosum, Periventricular leukomalacia, Cerebellar vermis hypoplasia, Ce... OMIM:620024
Crome Syndrome
Microcephaly, Cerebellar dysplasia OMIM:218900
Shwachman-Diamond Syndrome
Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro... ORPHA:811
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Joubert Syndrome 7
Brainstem dysplasia, Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar toot... OMIM:611560
Slc35A2-Cdg
Cerebral atrophy, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Cortical dysplasi... ORPHA:356961
Galloway-Mowat Syndrome
Microcephaly, Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria ORPHA:2065
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Farber Disease
Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Macular degener... ORPHA:333
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche... OMIM:614700
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Elevated circulating creatinine concentration, Anemia, Leukocytosis ORPHA:90060
Holoprosencephaly 14
Aqueductal stenosis, Macrocephaly, Dandy-Walker malformation, Cerebellar atrophy, Gray matter het... OMIM:619895
Kaposiform Lymphangiomatosis
Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnormal lymphatic vesse... ORPHA:464329
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Anemia, Hepatomegaly, Elevated circulating C-reactive protein concentration, Increased ... OMIM:620376
47,Xyy Syndrome
Abnormal brainstem morphology, Macrocephaly, Dysgenesis of the cerebellar vermis, Cerebellar dysp... ORPHA:8
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Biliary cirrhosis, Thrombocytopeni... ORPHA:2298
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hepatic... OMIM:613989
Immunodeficiency 87 And Autoimmunity
Autoimmune hemolytic anemia, Hypertriglyceridemia, Hepatic steatosis, Jaundice, Hepatomegaly, Hyp... OMIM:619573
Neu-Laxova Syndrome
Abnormal cortical gyration, Lissencephaly, Cerebral calcification, Dandy-Walker malformation, Pol... ORPHA:2671
Marburg Hemorrhagic Fever
Jaundice, Pancreatitis, Lymphadenopathy, Hypokalemia, Elevated circulating hepatic transaminase c... ORPHA:99826
Joubert Syndrome 6
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Di... OMIM:610688
Tangier Disease
Hypertriglyceridemia, Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, T... ORPHA:31150
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph... OMIM:169400
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Hyperlipidemia, Reticulocytosis, Increased blood urea nitrogen, Thrombocytopenia, Microangiopathi... OMIM:235400
Autosomal Recessive Polycystic Kidney Disease
Jaundice, Cholangitis, Increased serum bile acid concentration, Periportal fibrosis, Cholestasis,... ORPHA:731
Secondary Intestinal Lymphangiectasia
Cirrhosis, Decreased circulating prealbumin concentration, Lymphopenia, Reduced circulating trans... ORPHA:90363
Phoar2-Enteropathy Syndrome
Hypoalbuminemia OMIM:614441
Rajab Interstitial Lung Disease With Brain Calcifications 1
Decreased liver function, Cirrhosis, Anemia, Elevated circulating hepatic transaminase concentrat... OMIM:613658
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Blue Rubber Bleb Nevus
Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia OMIM:112200
Sengers Syndrome
Thrombocytopenia OMIM:212350
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration, Thromb... OMIM:611126
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Hepatomegaly, Anemia, Pancytopenia, Hypocalcemia, Retinal atrophy, Elevated circul... ORPHA:2785
Pediatric-Onset Graves Disease
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neutropenia in p... ORPHA:525731
Imerslund-Gräsbeck Syndrome