Gene Summary

Name:
spindle and kinetochore associated complex subunit 2
Synonyms:
1110001A07Rik,  Fam33a

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
hyperactivity Ska2tm1b(KOMP)Wtsi HET Early adult 5.96×10-05
increased circulating alkaline phosphatase level Ska2tm1b(KOMP)Wtsi HET Early adult 1.46×10-20
preweaning lethality, complete penetrance Ska2tm1b(KOMP)Wtsi HOM   Early adult 0.00
thrombocytopenia Ska2tm1b(KOMP)Wtsi HET Early adult 7.11×10-05
increased circulating alanine transaminase level Ska2tm1b(KOMP)Wtsi HET Early adult 1.89×10-06
embryonic lethality prior to organogenesis Ska2tm1b(KOMP)Wtsi HOM   E9.5 0.00
increased circulating bilirubin level Ska2tm1b(KOMP)Wtsi HET Early adult 2.24×10-09
decreased circulating triglyceride level Ska2tm1b(KOMP)Wtsi HET   Early adult 1.86×10-05
decreased circulating free fatty acids level Ska2tm1b(KOMP)Wtsi HET   Early adult 2.65×10-05
increased circulating HDL cholesterol level Ska2tm1b(KOMP)Wtsi HET Early adult 6.88×10-06

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Viewing: all phenotypes

lacZ Expression

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

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

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

Anatomy Images Zygosity Mutant Expr
Embryo N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote Ambiguous
Ear N/A heterozygote 50% (1 of 2)
Eye N/A heterozygote 100% (2 of 2)
Footplate N/A heterozygote 100% (2 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 100% (2 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 100% (2 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 50% (1 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 100% (2 of 2)
Liver N/A heterozygote Ambiguous
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Maxillary process N/A heterozygote 100% (2 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 100% (1 of 1)
Oral cavity N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 100% (2 of 2)
Spinal cord N/A heterozygote 100% (1 of 1)
Tail somite N/A heterozygote 100% (2 of 2)
Tail N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 575)
aorta 0.0%
brain 0.87% (5 of 577)
brainstem 0.35% (2 of 579)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 579)
cerebellum 0.52% (3 of 581)
cerebral cortex 0.35% (2 of 574)
epididymis 13.79% (20 of 145)
esophagus 1.73% (7 of 404)
eye 0.0%
heart 0.35% (2 of 571)
hippocampus 0.34% (2 of 586)
hypothalamus 0.35% (2 of 577)
kidney 4.66% (27 of 580)
large intestine 5.15% (30 of 583)
liver 0.0%
lower urinary tract 0.17% (1 of 583)
lung 0.34% (2 of 588)
lymph node 0.17% (1 of 587)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.17% (1 of 579)
ovary 0.17% (1 of 576)
oviduct 0.0%
pancreas 0.87% (5 of 578)
peripheral nervous system 0.34% (2 of 580)
peyers patch 0.0%
pituitary gland 0.17% (1 of 576)
prostate gland 1.89% (11 of 583)
skeletal muscle 0.0%
skin 0.17% (1 of 577)
small intestine 5.34% (31 of 581)
spinal cord 0.52% (3 of 576)
spleen 0.52% (3 of 581)
stomach 3.61% (21 of 582)
striatum 0.52% (3 of 582)
submandibular gland 1.43% (2 of 140)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 582)
thyroid gland 3.1% (18 of 581)
trachea 0.34% (2 of 589)
urinary bladder 0.0%
uterus 0.35% (2 of 579)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
brain 1.17% (6 of 511)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)

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

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

Adult LacZ

LacZ Images Section

34 Images

Embryo LacZ

LacZ images wholemount

8 Images

Eye Morphology

Images Ophthalmoscopy

4 Images

Combined SHIRPA and Dysmorphology

Images

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

Sleep Wake

Wake state (bmp file)

1 Images

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Ska2 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 Ska2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Hypertriglyceridemia 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia OMIM:619324
Glutathione Peroxidase Deficiency
Neonatal hyperbilirubinemia, Heinz bodies, Compensated hemolytic anemia OMIM:614164
Xanthomatosis, Susceptibility To
Hypercholesterolemia OMIM:602247
Malaria
Hyperbilirubinemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Anemia ORPHA:673
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Hyperbilirubinemia, Fava bean-induced hemolytic anemia OMIM:618660
Crigler-Najjar Syndrome Type 2
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79235
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Increased total bilirubin, Increased serum bile acid concentration... OMIM:619868
Pentosuria
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration ORPHA:2843
Sitosterolemia 2
Elevated circulating sitosterol concentration, Hypercholesterolemia OMIM:618666
Thyroid Hormone Metabolism, Abnormal, 2
Hypercholesterolemia OMIM:619855
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Hyperbilirubinemia, Erythroid hyperplasia, Sple... OMIM:237800
Red Cell Phospholipid Defect With Hemolysis
Hyperbilirubinemia, Reticulocytosis, Splenomegaly OMIM:179700
Cholesterol-Ester Transfer Protein Deficiency
Increased HDL cholesterol concentration, Hyperlipoproteinemia, Hypotriglyceridemia, Hyperlipidemi... ORPHA:79506
Hypercholanemia, Familial, 2
Unconjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:619256
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Anisocytosis, Elevated transferrin saturation, Reticulocy... ORPHA:766
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperlipoproteinemia, Type Ii, And Deafness
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:144300
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia OMIM:232700
Cholestasis, Progressive Familial Intrahepatic, 11
Increased serum bile acid concentration, Abnormal circulating bilirubin concentration OMIM:619874
Hypothyroidism, Congenital, Nongoitrous, 8
Attention deficit hyperactivity disorder, Hypercholesterolemia OMIM:301033
Cholestasis, Progressive Familial Intrahepatic, 12
Hyperbilirubinemia, Increased serum bile acid concentration, Splenomegaly, Conjugated hyperbiliru... OMIM:620010
Hypercholesterolemia, Familial, 4
Hypertriglyceridemia, Decreased LDL cholesterol concentration, Hypercholesterolemia OMIM:603813
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Hyperlipidemia, Familial Combined, 3
Increased LDL cholesterol concentration, Elevated circulating apolipoprotein A-II concentration, ... OMIM:144250
Atherosclerosis Susceptibility
Hypertriglyceridemia, Decreased HDL cholesterol concentration OMIM:108725
Megaloblastic Anemia, Folate-Responsive
Episodic hemolytic anemia, Hypersegmentation of neutrophil nuclei, Folate-responsive megaloblasti... OMIM:601775
Hyperlysinemia, Type I
Hyperactivity, Hyperlysinemia, Anemia OMIM:238700
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Acute lymphoblastic leukemia, Neutropenia, Reduced ... ORPHA:158057
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Rotor Syndrome
Hyperbilirubinemia, Conjugated hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Unconjugated hyperbilirubinemia, Neonatal hyperbilirubinemia ORPHA:79234
Citrullinemia, Type Ii, Neonatal-Onset
Hypercholesterolemia, Hypertyrosinemia, Hyperthreoninemia, Hypermethioninemia, Elevated plasma ci... OMIM:605814
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Reduced erythrocyte adenosine triphosphate... OMIM:301083
Congenital Disorder Of Glycosylation, Type Iip
Increased LDL cholesterol concentration, Hypercholesterolemia, Decreased circulating ceruloplasmi... OMIM:616829
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Reticulocytosis, Hemolytic anemia, Increased mean corpuscular hemoglobin con... OMIM:616689
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia OMIM:608320
Niemann-Pick Disease, Type B
Increased LDL cholesterol concentration, Bone-marrow foam cells, Anemia, Sea-blue histiocytosis, ... OMIM:607616
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased circulating ferritin ... OMIM:603552
Diarrhea 7, Protein-Losing Enteropathy Type
Hyperlipidemia, Hypercholesterolemia, Hypoalbuminemia OMIM:615863
Cholestasis-Lymphedema Syndrome
Hyperlipidemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:214900
Hyperinsulinemic Hypoglycemia, Familial, 8
Attention deficit hyperactivity disorder, Hyperammonemia, Hypercholesterolemia, Increased C-pepti... OMIM:620211
Schizophrenia 15
Hyperactivity OMIM:613950
Thrombocytopenia 2
Thrombocytopenia, Leukocytosis OMIM:188000
Thrombocytopenic Purpura, Autoimmune
Thrombocytopenia OMIM:188030
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Spherocytosis, Type 4
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:612653
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Hemophagocytosis, Anemia, Hypertriglyceridemia, Thrombocytopenia, Increased c... OMIM:613101
Spherocytosis, Type 2
Reticulocytosis, Hemolytic anemia, Acanthocytosis, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:616649
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Hepatosplenomegaly, Anisocytosis, Anemia, Decreased mean corpuscular volume, Hypochromia, Conjuga... OMIM:616860
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:615703
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated circulating alpha-fetoprotein concentration, Abnormal circulating glutamine concentratio... ORPHA:247598
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoproteinemia, Increased LDL cholesterol concentration, Leukopenia, Hemophagocytosis, Anemia, I... OMIM:267700
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, A... OMIM:613673
Thrombocytopenia 7
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Reduced platel... OMIM:619130
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Distal Myopathy, Tateyama Type
Abnormal circulating creatine kinase concentration, Hypercholesterolemia ORPHA:488650
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Thrombocytopenia, Hypocholesterolemia, Splenomegaly OMIM:610539
Bile Acid Synthesis Defect, Congenital, 5
Hyperbilirubinemia, Increased serum bile acid concentration, Iron deficiency anemia, Increased to... OMIM:616278
Spherocytosis, Type 1
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Spherocytosis, Splenomegaly OMIM:182900
Dehydrated Hereditary Stomatocytosis
Increased hemoglobin concentration, Abnormal blood potassium concentration, Reticulocytosis, Poly... ORPHA:3202
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Reticulocytosis, Normocytic anemia, Hyperbilirubinemia, Normochromic anemia, Nonspherocytic hemol... OMIM:235700
Sickle Cell Anemia
Leukocytosis, Reticulocytosis, Hemolytic anemia, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Harderoporphyria
Reticulocytosis, Hemolytic anemia, Increased circulating ferritin concentration, Neonatal hyperbi... OMIM:618892
Hepatic Lipase Deficiency
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia OMIM:614025
Elliptocytosis 2
Neonatal hyperbilirubinemia, Reticulocytosis, Hemolytic anemia, Elliptocytosis OMIM:130600
Analbuminemia
Elevated circulating transferrin concentration, Increased LDL cholesterol concentration, Hypercho... OMIM:616000
Fish-Eye Disease
Hypertriglyceridemia, Increased LDL cholesterol concentration, Decreased HDL cholesterol concentr... OMIM:136120
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Glycogen Storage Disease Ixa1
Hypercholesterolemia, Hypertriglyceridemia, Hyperuricemia, Splenomegaly OMIM:306000
Amegakaryocytic Thrombocytopenia, Congenital
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia OMIM:604498
Congenital Disorder Of Glycosylation, Type Iio
Hepatosplenomegaly, Increased LDL cholesterol concentration, Elevated circulating creatine kinase... OMIM:616828
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Anemia, Abnormal erythrocyte morphology, Hyperbilirubinemia, Increased mean corpusc... ORPHA:98870
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia, Polyphagia, Decreased circulating cortisol level OMIM:609734
Pyruvate Kinase Deficiency Of Red Cells
Reduced red cell pyruvate kinase level, Reduced haptoglobin level, Reticulocytosis, Decreased hem... OMIM:266200
Sitosterolemia 1
Episodic hemolytic anemia, Reduced haptoglobin level, Elevated circulating sitosterol concentrati... OMIM:210250
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hypertriglyceridemia, Hyperactivity OMIM:615924
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypercholesterolemia, Hypoalbuminemia ORPHA:94124
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Nephrotic Syndrome, Type 7
Thrombocytopenia, Hemolytic anemia, Hypoalbuminemia OMIM:615008
Glycogen Storage Disease Vii
Reticulocytosis, Hyperuricemia, Hemolytic anemia, Reduced erythrocyte 2,3-diphosphoglycerate conc... OMIM:232800
Apolipoprotein C-Ii Deficiency
Splenomegaly, Hypertriglyceridemia, Decreased circulating apolipoprotein C-II concentration, Hype... OMIM:207750
Anemia, Congenital Dyserythropoietic, Type Ia
Anisocytosis, Bite cells, Reticulocytosis, Hemolytic anemia, Anemia of inadequate production, Hyp... OMIM:224120
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly ORPHA:231393
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypercholesterolemia, Hypoalbuminemia OMIM:607250
Bile Acid Synthesis Defect, Congenital, 2
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:235555
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Fava bean-induced hemolytic anemia, Anisocytosis, Leukocytosis, Reticulocytosis, Heinz bodies, Un... OMIM:300908
Hereditary Elliptocytosis
Reticulocytosis, Elliptocytosis, Hemolytic anemia, Abnormal erythrocyte morphology, Hyperbilirubi... ORPHA:288
Rh-Null, Regulator Type
Unconjugated hyperbilirubinemia, Stomatocytosis, Hemolytic anemia OMIM:268150
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hepatosplenomegaly, Hypoproteinemia, Leukopenia, Hemophagocytosis, Anemia, Increased total biliru... OMIM:603553
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Hypercholesterolemia, Splenomegaly ORPHA:75234
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Hyperbilirubinemia, Decreased hemoglobin concentration, Reticulocytosis, Hemolytic anemia ORPHA:713
Glycine Encephalopathy 1
Hyperglycinemia, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia, Hyperkalemia OMIM:141000
Rh Deficiency Syndrome
Hepatosplenomegaly, Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Hemolytic anemia, H... ORPHA:71275
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypermethioninemia, Elevated circulating creatine kinase concentration, Hyperbilirubinemia, Eleva... OMIM:614300
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hypertriglyceridemia, Hypocalcemia, Hypercholesterolemia OMIM:612526
Biliary Atresia, Extrahepatic
Hyperbilirubinemia, Unconjugated hyperbilirubinemia, Increased total bilirubin OMIM:210500
Overhydrated Hereditary Stomatocytosis
Reticulocytosis, Hemolytic anemia, Hyperbilirubinemia, Increased mean corpuscular volume, Stomato... OMIM:185000
Lipoyltransferase 1 Deficiency
Hyperprolinemia, Hyperglutaminemia, Increased total bilirubin OMIM:616299
Cholestasis, Benign Recurrent Intrahepatic, 1
Increased serum bile acid concentration, Conjugated hyperbilirubinemia OMIM:243300
Relapsing Fever
Leukocytosis, Leukopenia, Anemia, Increased total bilirubin, Thrombocytopenia, Elevated circulati... ORPHA:91547
Bleeding Disorder, Platelet-Type, 16
Macrothrombocytopenia, Anemia, Giant platelets, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Fanconi Anemia, Complementation Group V
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia, Anemia OMIM:617243
Hypercholesterolemia, Familial, 3
Abnormal LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:603776
Bile Acid Synthesis Defect, Congenital, 1
Steatorrhea, Hypocholesterolemia, Splenomegaly, Conjugated hyperbilirubinemia OMIM:607765
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating alpha-fetoprotein concentration, Increased serum bile acid concentration, Hy... OMIM:619662
Hepatoportal Sclerosis
Leukopenia, Anemia, Hyperbilirubinemia, Hypersplenism, Thrombocytopenia, Splenomegaly, Hypoalbumi... ORPHA:64743
Congenital Amegakaryocytic Thrombocytopenia
Abnormal hemoglobin, Thrombocytopenia, Anemia ORPHA:3319
Congenital Bile Acid Synthesis Defect Type 2
Extramedullary hematopoiesis, Steatorrhea, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abn... ORPHA:79303
Hyperprolinemia, Type I
Hyperprolinemia, Hyperactivity OMIM:239500
Eosinophilia, Familial
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia OMIM:131400
Bleeding Disorder, Platelet-Type, 24
Impaired ristocetin-induced platelet aggregation, Impaired epinephrine-induced platelet aggregati... OMIM:619271
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Neurodevelopmental Disorder With Gait Disturbance, Dysmorphic Facies, And Behavioral Abnormalities, X-Linked
Hyperbilirubinemia OMIM:301094
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hyperkalemia, Hypoalbuminemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Hypercholesterolemia, Familial, 2
Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:144010
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia, Elevated circulating creatine kinase concentration OMIM:614727
Erythroleukemia, Familial, Susceptibility To
Anemia, Leukemia, Thrombocytopenia, Erythroid hyperplasia, Splenomegaly, Acute myeloid leukemia OMIM:133180
Infantile Sialic Acid Storage Disease
Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubinemia OMIM:269920
Transaldolase Deficiency
Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac... ORPHA:101028
Autoinflammation With Infantile Enterocolitis
Anemia, Reduced natural killer cell count, Thrombocytopenia, Pancytopenia, Elevated circulating C... OMIM:616050
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly, Increased total bilirubin ORPHA:90037
Macrophage Activation Syndrome
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Abnormal natural killer cell count, ... ORPHA:158061
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia OMIM:124900
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Elevated circulating alpha-fetoprotein concentration, Elevated circulating creatine kinase concen... ORPHA:64753
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia OMIM:616176
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia, Hyperactivity OMIM:609727
Lymphoproliferative Syndrome 1
Leukopenia, Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportio... OMIM:613011
Citrullinemia Type Ii
Hypoproteinemia, Abnormal eating behavior, Hyperactivity, Restlessness, Acute hyperammonemia, Ele... ORPHA:247585
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Ataxia-Oculomotor Apraxia 4
Elevated circulating alpha-fetoprotein concentration, Hypercholesterolemia, Hypoalbuminemia OMIM:616267
Platelet Signal Processing Defect
Impaired epinephrine-induced platelet aggregation, Impaired collagen-induced platelet aggregation... OMIM:173590
Glycogen Storage Disease Xii
Reduced haptoglobin level, Normocytic anemia, Anemia, Elevated circulating creatine kinase concen... OMIM:611881
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormal circulating thyroglobulin level, Conjugated hyperbilirubinemia ORPHA:95715
Hereditary Spherocytosis
Reticulocytosis, Increased mean corpuscular hemoglobin concentration, Extramedullary hematopoiesi... ORPHA:822
Acquired Idiopathic Sideroblastic Anemia
Hyposegmentation of neutrophil nuclei, Leukocytosis, Normocytic anemia, Hypochromic anemia, Neutr... ORPHA:75564
Hypermanganesemia With Dystonia 1
Unconjugated hyperbilirubinemia, Increased total iron binding capacity, Polycythemia, Hypermangan... OMIM:613280
Growth Hormone Insensitivity Syndrome
Hypercholesterolemia ORPHA:181393
Immunodeficiency 97 With Autoinflammation
Hepatosplenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased proportion of... OMIM:619802
Immunodeficiency 32B
Impaired oxidative burst, Anemia, Eosinophilia, Thrombocytopenia, Monocytopenia, Neutrophilia, Sp... OMIM:226990
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Microangiopathic hemolytic anemia, Reticulocytosis, Decreased serum creatinine ORPHA:54057
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia OMIM:615285
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia, Elevated circulating C-reactive... OMIM:308240
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Neutropenia, Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Acute mye... OMIM:619041
Bachmann-Bupp Syndrome
Hyperbilirubinemia, Attention deficit hyperactivity disorder OMIM:619075
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Giant platelets, Impair... OMIM:155100
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Thrombocytopenia, Normochr... ORPHA:98826
Hyperlipoproteinemia, Type I
Hepatosplenomegaly, Splenomegaly, Hyperlipidemia, Lactescent serum, Hypercholesterolemia, Increas... OMIM:238600
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis OMIM:615193
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia, Hyperactivity, Attention deficit hyperactivity disorder ORPHA:73272
Wolcott-Rallison Syndrome
Hyperammonemia, Neutropenia, Hyperbilirubinemia, Lymphocytosis, Iron deficiency anemia, Hyponatre... ORPHA:1667
Pontocerebellar Hypoplasia, Type 15
Chronic neutropenia, Thrombocytopenia, Anemia OMIM:619302
Fanconi Anemia, Complementation Group G
Leukemia, Thrombocytopenia, Neutropenia, Anemia OMIM:614082
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Leishmaniasis
Abnormal macrophage morphology, Leukopenia, Anemia, Thrombocytopenia, Pancytopenia, Splenomegaly,... ORPHA:507
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Hemolytic anemia, Reduced platelet alpha granules, Increased RBC distribution wi... OMIM:314050
Anemia, Sideroblastic, 5
Anemia, Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia OMIM:619523
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Drug-Induced Lupus Erythematosus
Anemia, Elevated circulating creatine kinase concentration, Increased blood urea nitrogen, Thromb... ORPHA:231111
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Hyperbilirubinemia, Thrombocytopenia, Splen... OMIM:251880
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Increased LDL cholesterol concentration, Leukopenia, Bone-marrow foam cells, ... OMIM:278000
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia, Hypercholesterolemia ORPHA:263501
Ataxia-Pancytopenia Syndrome
Anemia, Hypoplastic anemia, Thrombocytopenia, Pancytopenia, Acute myelomonocytic leukemia, Neutro... OMIM:159550
Bile Acid Synthesis Defect, Congenital, 3
Hyperbilirubinemia, Steatorrhea, Splenomegaly OMIM:613812
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Alpha-Thalassemia-Myelodysplastic Syndrome
HbH hemoglobin, Microcytic anemia, Thrombocytopenia, Acute leukemia, Splenomegaly, Neutropenia ORPHA:231401
Pearson Marrow-Pancreas Syndrome
Refractory sideroblastic anemia, Anemia, Steatorrhea, Reticulocytopenia, Hypoplastic anemia, Hype... OMIM:557000
Diffuse Neonatal Hemangiomatosis
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:2123
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia OMIM:252270
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Hyperbilirubinemia, Increased serum bile acid concentration OMIM:619685
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Bile Acid Synthesis Defect, Congenital, 4
Hyperbilirubinemia, Decreased serum bile acid concentration OMIM:214950
Cholestasis, Progressive Familial Intrahepatic, 5
Elevated circulating alpha-fetoprotein concentration, Hyperammonemia, Conjugated hyperbilirubinemia OMIM:617049
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Hypoalbuminemia OMIM:208920
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Liver Failure, Infantile, Transient
Hyperbilirubinemia, Hypoalbuminemia OMIM:613070
Chronic Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529808
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Acute Bilirubin Encephalopathy
Neonatal hyperbilirubinemia, Hypernatremia, Hemolytic anemia, Hypoalbuminemia ORPHA:529799
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of thrombocytes ORPHA:721
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hyperlipidemia... OMIM:235400
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Sea-Blue Histiocyte Disease
Thrombocytopenia, Splenomegaly, Sea-blue histiocytosis OMIM:269600
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Neutropenia, Thrombocytopenia, Hyperammonemia, Anemia ORPHA:289916
Refractory Anemia With Excess Blasts
Leukocytosis, Abnormal mean corpuscular volume, Anemia of inadequate production, Thrombocytopenia... ORPHA:86839
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Leukopenia, Anemia OMIM:615715
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Anemia, Hyperproteinemia, Hypertriglyceridemia, Abnormal natural killer cell co... ORPHA:158048
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Thrombocytopenia, Hyperhomocystinemia, Hypomethioninemia, Elevated circul... OMIM:614857
Abetalipoproteinemia
Reticulocytosis, Anemia, Decreased LDL cholesterol concentration, Steatorrhea, Acanthocytosis, Hy... ORPHA:14
Cholestasis, Progressive Familial Intrahepatic, 2
Splenomegaly, Conjugated hyperbilirubinemia OMIM:601847
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia, Attention deficit hyperactivity disorder, Impulsivity ORPHA:293939
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Polycythemia Vera
Leukocytosis, Increased red blood cell mass, Splenomegaly, Thrombocytopenia, Increased hematocrit... OMIM:263300
Beta-Thalassemia
Anemia, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Abnormality of iron homeostasis... ORPHA:848
Cernunnos-Xlf Deficiency
Anemia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, T lymphocytopenia ORPHA:169079
Congenital Analbuminemia
Hypoproteinemia, Hyperlipidemia, Increased alpha-globulin, Hypercholesterolemia, Hypoalbuminemia ORPHA:86816
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Preeclampsia
Thrombocytopenia, Elevated circulating creatinine concentration ORPHA:275555
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hyperammonemia, Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia
Hyperammonemia, Leukopenia, Anemia, Macrocytic anemia, Thrombocytopenia ORPHA:27
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia, Hypercholesterolemia, Atte... ORPHA:90674
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia ORPHA:254531
Phenylketonuria
Hyperphenylalaninemia, Hyperactivity, Attention deficit hyperactivity disorder, Maternal hyperphe... OMIM:261600
Osteopetrosis, Autosomal Recessive 5
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Hyperbilirubinemia, Throm... OMIM:259720
Cholestasis, Progressive Familial Intrahepatic, 1
Splenomegaly, Conjugated hyperbilirubinemia OMIM:211600
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Amed Syndrome, Digenic
Leukopenia, Anemia, Attention deficit hyperactivity disorder, Thrombocytopenia, Acute myeloid leu... OMIM:619151
Transcobalamin Deficiency
Thrombocytopenia, Pancytopenia, Lymphopenia, Neutropenia ORPHA:859
Folate Malabsorption, Hereditary
Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia OMIM:229050
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypertriglyceridemia, Abnormal circulating lipid concentration, Hypercholesterolemia, Hypoalbumin... ORPHA:567548
Aicardi-Goutieres Syndrome 6
Thrombocytopenia, Splenomegaly, Hemolytic anemia OMIM:615010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612924
Bernard-Soulier Syndrome
Macrothrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation, Thrombo... OMIM:231200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Sideroblastic anemia, Th... OMIM:617021
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hyperbilirubinemia, Elevated circulating long chain fatty acid concentration OMIM:614886
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612926
Stuve-Wiedemann Syndrome 2
Dysphagia, Thrombocytopenia OMIM:619751
Smith-Magenis Syndrome
Hypertriglyceridemia, Hyperactivity, Hypercholesterolemia OMIM:182290
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Hypermethioninemia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Hypoalbu... OMIM:617156
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Leukopenia, Hyperuricemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Pancytopenia,... OMIM:613845
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Increased CD4:CD8 ratio, Thrombocytopenia, B lymphocytope... OMIM:618048
Galactokinase Deficiency
Hepatosplenomegaly, Hypergalactosemia, Increased level of galactitol in plasma, Hypercholesterolemia ORPHA:79237
Systemic Lupus Erythematosus 17
Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Leukopenia OMIM:301080
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hyperammonemia, Leukopenia, Methylmalonic acidemia, Thrombocytopenia, Hyperglycinemia, Neutropenia OMIM:251000
Wt Limb-Blood Syndrome
Leukemia, Thrombocytopenia, Pancytopenia, Hypoplastic anemia OMIM:194350
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia OMIM:615812
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, Thrombocytopenia, B Acute Lymphoblastic Leukemia, Neut... OMIM:616216
Atelis Syndrome 1
Thrombocytopenia, Attention deficit hyperactivity disorder, Leukopenia, Anemia OMIM:620184
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Anemia, Neutropenia, Hypertriglyceridemia, Thrombocytopenia, Increased circulat... ORPHA:540
Moyamoya Disease With Early-Onset Achalasia
Thrombocytopenia, Abnormal platelet aggregation ORPHA:401945
Methylmalonic Aciduria, Cblb Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... OMIM:251110
Rhabdoid Tumor
Thrombocytopenia, Hypercalcemia, Anemia ORPHA:69077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Anemia, Increased blood urea nitrogen, Thrombocytopenia, Eleva... OMIM:612925
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Thrombocytopenia, Conjugated hyperbilirubinemia OMIM:208085
Wilson Disease
Hemolytic anemia, Anemia, Hypouricemia, Increased circulating copper concentration, Splenomegaly,... OMIM:277900
Nephrotic Syndrome, Type 11
Hypercholesterolemia, Hypoalbuminemia OMIM:616730
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hyperbilirubinemia, Elevated circulating creatinine concentration ORPHA:542323
Temple Syndrome
Hypertriglyceridemia, Hypercholesterolemia OMIM:616222
Fanconi Anemia, Complementation Group T
Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia OMIM:616435
Hepatocellular Carcinoma
Polycythemia, Anemia, Hypokalemia, Hyperbilirubinemia, Thrombocytopenia, Thrombocytosis, Hyponatr... ORPHA:88673
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Transient hyperphenylalaninemia, Hyperactivity OMIM:612716
D-Glyceric Aciduria
Increased circulating free fatty acid level, Nonketotic hyperglycinemia, Hyperglycinemia ORPHA:941
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Leukocytosis, Reticulocytosis, Microangiopathic hemolytic anemia, Hypokalemia, Unconjugated hyper... ORPHA:90038
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Abn... ORPHA:521
Parenteral Nutrition-Associated Cholestasis
Hyperlipidemia, Abnormal circulating fatty-acid concentration, Conjugated hyperbilirubinemia, Spl... ORPHA:567983
Omenn Syndrome
Hypoplasia of the thymus, Hypoproteinemia, Anemia, Severe B lymphocytopenia, Eosinophilia, Thromb... OMIM:603554
Stormorken Syndrome
Hypoplastic spleen, Asplenia, Anemia, Elevated circulating creatine kinase concentration, Thrombo... OMIM:185070
Ataxia With Vitamin E Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Xanthelasma, Hypercholesterolemia OMIM:277460
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Neutropenia, Anemia OMIM:616738
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hyperammonemia, Decreased plasma free carnitine, Elevated circulating long chain fatty acid conce... OMIM:608836
Moyamoya Disease 6 With Or Without Achalasia
Dysphagia, Thrombocytopenia OMIM:615750
Paroxysmal Nocturnal Hemoglobinuria
Reduced haptoglobin level, Reticulocytosis, Leukopenia, Hemolytic anemia, Abnormal erythrocyte en... ORPHA:447
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Hemophagocytosis, Thrombocytopenia, Elevated circulating C-reactive protein c... OMIM:619644
Laron Syndrome
Hypercholesterolemia ORPHA:633
Propionic Acidemia
Hyperammonemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, Neutropenia OMIM:606054
Intrahepatic Cholestasis Of Pregnancy
Hyperbilirubinemia, Increased serum bile acid concentration ORPHA:69665
Intermediate Osteopetrosis
Hepatosplenomegaly, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:210110
Fanconi-Bickel Syndrome
Hypophosphatemia, Hypouricemia, Hypergalactosemia, Hypokalemia, Increased serum bile acid concent... OMIM:227810
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia, Neutropenia OMIM:598500
Lysinuric Protein Intolerance
Hemophagocytosis, Hyperalaninemia, Hepatosplenomegaly, Increased LDL cholesterol concentration, H... ORPHA:470
Immunodeficiency 46
Neutropenia, Intermittent thrombocytopenia, Anemia OMIM:616740
Morgagni-Stewart-Morel Syndrome
Hypercholesterolemia, Hyperuricemia ORPHA:77296
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Increased circulating free fatty acid level ORPHA:293964
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia ORPHA:209902
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Macrothrombocytopenia, Anisocytosis, Hypochromic anemia, Anemia of inadequate production, Poikilo... ORPHA:67044
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Overlap Myositis
Abnormal circulating lipid concentration, Leukopenia, Elevated circulating creatine kinase concen... ORPHA:206572
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Anisocytosis, Elliptocytosis, Abnormal reticulocyte morphology, Macrocytic anemia, Impaired plate... OMIM:300835
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Snakebite Envenomation
Thrombocytopenia, Pseudobulbar paralysis, Neuromuscular dysphagia, Hyponatremia ORPHA:449285
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Slc35A1-Cdg
Giant platelets, Thrombocytopenia, Abnormal platelet granules, Neutropenia ORPHA:238459
Acyl-Coa Dehydrogenase 9 Deficiency
Hyperammonemia, Elevated circulating acylcarnitine concentration, Thrombocytopenia, Elevated crea... ORPHA:99901
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hyperammonemia, Decreased serum zinc, Conjugated hyperbilirubinemia, Hypoalbuminemia OMIM:617093
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:610333
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Hypoalbuminemia, Anemia, Elevated circulating creatinine concentration OMIM:608104
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Hypertriglyceridemia, Thrombocytopenia, Splenomegaly OMIM:617591
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Megaloblastic anemia, Anemia, Cystathioninemia, Thrombocytopenia, Hyperho... OMIM:277380
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Caroli Syndrome
Leukocytosis, Leukopenia, Conjugated hyperbilirubinemia, Hyperbilirubinemia, Thrombocytopenia, Hy... ORPHA:480520
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Congenital thrombocytopenia, Leukocytosis, Anemia OMIM:618886
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Hyperkalemia, Stomatocytosis, Splenomegaly OMIM:608885
Congenital Enterovirus Infection
Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Leukopenia, Anemia, Neutropenia, Th... ORPHA:292
Pyruvate Carboxylase Deficiency
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Elevated plasma citrulline, Increased serum p... ORPHA:3008
Cystic Echinococcosis
Hyperbilirubinemia, Splenic cyst, Eosinophilia ORPHA:400
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Dengue Fever
Hypoproteinemia, Thrombocytopenia, Leukopenia ORPHA:99828
Lathosterolosis
Hepatosplenomegaly, Anisopoikilocytosis, Acanthocytosis, Hyperbilirubinemia, Abnormal circulating... OMIM:607330
Graft Versus Host Disease
Hyperbilirubinemia, Hepatosplenomegaly, Hemophagocytosis ORPHA:39812
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Peroxisome Biogenesis Disorder 13A (Zellweger)
Increased circulating very long-chain fatty acid concentration, Conjugated hyperbilirubinemia OMIM:614887
Senior-Boichis Syndrome
Hepatosplenomegaly, Agitation, Anemia, Attention deficit hyperactivity disorder, Increased total ... ORPHA:84081
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Thrombocytopenia, Increased mean platelet volume, Impaired ADP-ind... OMIM:617443
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Increased C-peptide level, Hypercholesterolemia ORPHA:528
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Abnormal alpha granule content, Impaired platelet aggregation, Thromboc... OMIM:601399
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Reynolds Syndrome
Steatorrhea, Lymphopenia, Hyperbilirubinemia, Splenomegaly, Calcinosis OMIM:613471
Griscelli Syndrome
Abnormal circulating lipid concentration, Leukopenia, Abnormality of neutrophils, Thrombocytopeni... ORPHA:381
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Thrombocytopenia, Lymphopenia, Hemolytic anemia OMIM:616744
Purine Nucleoside Phosphorylase Deficiency
Hyperactivity, Hypouricemia, Decreased proportion of CD3-positive T cells, Autoimmune thrombocyto... ORPHA:760
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Neonatal hyperbilirubinemia, Hyperuricemia ORPHA:348
Babesiosis
Thrombocytopenia, Leukopenia, Hemolytic anemia, Splenomegaly ORPHA:108
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia OMIM:618624
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatosplenomegaly, Anisocytosis, Reticulocytosis, Leukocytosis, Hemolytic anemia, Elliptocytosis... OMIM:618278
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Acquired Aneurysmal Subarachnoid Hemorrhage
Alcoholism, Leukocytosis, Hypercholesterolemia ORPHA:90065
Tangier Disease
Hepatosplenomegaly, Anemia, Hypertriglyceridemia, Thrombocytopenia, Hypocholesterolemia ORPHA:31150
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Thrombocytopen... OMIM:274150
Methylmalonic Aciduria, Cbla Type
Hyperammonemia, Methylmalonic acidemia, Anemia, Thrombocytopenia, Pancytopenia, Hyperglycinemia, ... OMIM:251100
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Thrombocytopenia, Anemia, And Myelofibrosis
Thrombocytopenia, Anisopoikilocytosis, Splenomegaly, Anemia OMIM:617441
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Histidinemia
Hyperhistidinemia, Hyperactivity ORPHA:2157
Bone Marrow Failure Syndrome 4
Thrombocytopenia, Leukopenia, Anemia OMIM:618116
Gaucher Disease, Type Iii
Thrombocytopenia, Pancytopenia, Splenomegaly OMIM:231000
Dysbetalipoproteinemia
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... ORPHA:412
Gaisböck Syndrome
Increased red blood cell count, Increased circulating renin level, Hyperuricemia, Increased mean ... ORPHA:90041
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Avian Influenza
Leukopenia, Lymphopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia, El... ORPHA:454836
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Gamma-Heavy Chain Disease
Anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abnormal lymphocyte morphology,... ORPHA:100026
Congenital Erythropoietic Porphyria
Anisocytosis, Reduced haptoglobin level, Reticulocytosis, Leukopenia, Abnormal circulating porphy... ORPHA:79277
Vexas Syndrome
Thrombocytopenia, Elevated circulating C-reactive protein concentration, Macrocytic anemia OMIM:301054
Isolated Agammaglobulinemia
Abnormality of neutrophils, Thrombocytopenia, Abnormal lymphocyte morphology, Anemia ORPHA:229717
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Elevated circulating creatine kinase concentration, Normochromic anemia OMIM:618775
Isovaleric Acidemia
Thrombocytopenia, Pancytopenia, Leukopenia OMIM:243500
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hypertriglyceridemia, H... ORPHA:79240
Mandibuloacral Dysplasia
Hypertriglyceridemia, Increased circulating free fatty acid level, Hypercholesterolemia ORPHA:2457
Primary Myelofibrosis
Hepatosplenomegaly, Leukocytosis, Extramedullary hematopoiesis, Anemia, Thrombocytopenia, Pancyto... ORPHA:824
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hypercholesterolemia, Elevated circulating creatine kinase concentration, Splenomegaly, Hypertrig... ORPHA:370
Congenital Disorder Of Glycosylation, Type Iil
Thrombocytopenia, Pancytopenia, Elevated circulating creatine kinase concentration, Splenomegaly OMIM:614576
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hyperbilirubinemia, Thrombocytopenia ORPHA:464321
Fumarase Deficiency
Hyperbilirubinemia, Polycythemia OMIM:606812
Specific Granule Deficiency 2
Neutropenia, Thrombocytopenia, Absent neutrophil specific granules, Anemia OMIM:617475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hyperbilirubinemia, Thrombocytopenia, Hypocalcemia, Anemia ORPHA:163979
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hypercholesterolemia, Anemia, Elevated circulating creatine kinase concentration, Splenomegaly, H... ORPHA:264580
9Q31.1Q31.3 Microdeletion Syndrome
Hypercholesterolemia ORPHA:401923
Mevalonic Aciduria
Hepatosplenomegaly, Leukocytosis, Anemia, Normocytic hypoplastic anemia, Elevated circulating cre... OMIM:610377
Autoimmune Lymphoproliferative Syndrome, Type Iia
Neutropenia in presence of anti-neutropil antibodies, Increased proportion of HLA DR+ T cells, Au... OMIM:603909
Smith-Magenis Syndrome
Hypertriglyceridemia, Attention deficit hyperactivity disorder, Hypercholesterolemia ORPHA:819
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Anemia, Elevated circulating creatinine concentration ORPHA:90060
Hypothyroidism Due To Tsh Receptor Mutations
Neonatal hyperbilirubinemia, Increased circulating thyroglobulin level ORPHA:90673
Imerslund-Gräsbeck Syndrome
Abnormal hemoglobin concentration, Anisopoikilocytosis, Reticulocytosis, Megaloblastic anemia, Hy... ORPHA:35858
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Leukopenia, Abnormal platelet aggregation OMIM:614171
Combined Oxidative Phosphorylation Deficiency 55
Hypophosphatemia, Anemia, Hypophosphatemic rickets, Elevated circulating creatine kinase concentr... OMIM:619743
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Hypercholesterolemia ORPHA:96184
X-Linked Agammaglobulinemia
Thrombocytopenia, Neutropenia, Hypocalcemia, Anemia ORPHA:47
Hereditary Cryohydrocytosis With Reduced Stomatin
Hepatosplenomegaly, Stomatocytosis, Spontaneous hemolytic crises, Conjugated hyperbilirubinemia ORPHA:168577
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Pelger-Huet Anomaly
Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Giant platelets, Thrombocytope... OMIM:169400
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Intermittent thrombocytopenia, B lymphocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia OMIM:150550
Osteopetrosis, Autosomal Recessive 4
Thrombocytopenia, Reticulocytosis, Splenomegaly, Anemia OMIM:611490
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Splenomegaly, Anemia OMIM:615085
Schimke Immuno-Osseous Dysplasia
Decreased proportion of naive CD8 T cells, Anemia, Lymphopenia, Hyperlipidemia, Thrombocytopenia,... ORPHA:1830
Bleeding Disorder, Platelet-Type, 17
Macrothrombocytopenia, Impaired epinephrine-induced platelet aggregation, Absence of alpha granul... OMIM:187900
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Caroli Disease
Leukocytosis, Abnormal circulating alpha-fetoprotein concentration, Conjugated hyperbilirubinemia... ORPHA:53035
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Hypertriglyceridemia, Hypercholesterolemia OMIM:610644
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Hypoproteinemia, Hepatosplenomegaly, Hemophagocytosis, Abnormal platelet ... ORPHA:167
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Increased mean corpuscular volume, Thrombocytopenia, Pancytopenia, Megaloblastic anemia OMIM:613839
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Thiamine-responsive megaloblastic anemia OMIM:249270
Shwachman-Diamond Syndrome
Leukopenia, Normocytic anemia, Aplastic anemia, Anemia, Steatorrhea, Leukemia, Chronic neutropeni... ORPHA:811
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Leukocytosis, Anemia, Leukemia, Abnormal mast cell morphology, Thrombocytopen... ORPHA:98850
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Dysphagia, Thrombocytopenia, Normochromic anemia, Hypoalbuminemia OMIM:254900
Idiopathic Aplastic Anemia
Anemia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Neutropenia ORPHA:88
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Neuroleptic Malignant Syndrome
Leukocytosis, Hyperuricemia, Agitation, Hyperphosphatemia, Elevated circulating creatine kinase c... ORPHA:94093
Sengers Syndrome
Thrombocytopenia OMIM:212350
Myh9-Related Disease