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Gene: Tlk1 MGI:2441683

Gene Summary

Name:

tousled-like kinase 1

Synonyms:

4930545J15Rik

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
thrombocytopenia	Tlk1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	6.51×10^-06
increased circulating phosphate level	Tlk1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.43×10^-06
decreased mean corpuscular hemoglobin	Tlk1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.38×10^-10
increased circulating alkaline phosphatase level	Tlk1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.82×10^-07
increased circulating bilirubin level	Tlk1^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	1.17×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
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)
Cartilage tissue	Section images	heterozygote	100% (2 of 2)
Cerebellum	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	50% (1 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)
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)
Skin	Section images	heterozygote	100% (2 of 2)
Small intestine	Section images	heterozygote	100% (2 of 2)
Spleen	Section images	heterozygote	100% (2 of 2)
Stomach	Section images	heterozygote	100% (2 of 2)
Submandibular gland	Section images	heterozygote	100% (2 of 2)
Testis	Section images	heterozygote	50% (1 of 2)
Thymus	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)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	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)
Midbrain	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)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thalamus	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)
Embryo	N/A	homozygote	Ambiguous
Brain	N/A	heterozygote	100% (2 of 2)
Brain	N/A	homozygote	Ambiguous
Dorsal root ganglion	N/A	heterozygote	100% (2 of 2)
Dorsal root ganglion	N/A	homozygote	Ambiguous
Ear	N/A	heterozygote	100% (2 of 2)
Ear	N/A	homozygote	Ambiguous
Eye	N/A	heterozygote	100% (2 of 2)
Eye	N/A	homozygote	Ambiguous
Footplate	N/A	heterozygote	100% (2 of 2)
Footplate	N/A	homozygote	Ambiguous
Forebrain	N/A	heterozygote	100% (2 of 2)
Forebrain	N/A	homozygote	Ambiguous
Forelimb	N/A	heterozygote	100% (2 of 2)
Forelimb	N/A	homozygote	Ambiguous
Fronto-nasal process	N/A	heterozygote	Ambiguous
Fronto-nasal process	N/A	homozygote	Ambiguous
Handplate	N/A	heterozygote	100% (2 of 2)
Handplate	N/A	homozygote	Ambiguous
Head	N/A	heterozygote	100% (2 of 2)
Head	N/A	homozygote	Ambiguous
Heart	N/A	heterozygote	100% (2 of 2)
Heart	N/A	homozygote	Ambiguous
Hindbrain	N/A	heterozygote	100% (2 of 2)
Hindbrain	N/A	homozygote	Ambiguous
Hindlimb	N/A	heterozygote	100% (2 of 2)
Hindlimb	N/A	homozygote	Ambiguous
Liver	N/A	heterozygote	Ambiguous
Liver	N/A	homozygote	Ambiguous
Lung	N/A	heterozygote	Ambiguous
Lung	N/A	homozygote	Ambiguous
Mandibular process	N/A	heterozygote	100% (2 of 2)
Mandibular process	N/A	homozygote	Ambiguous
Maxillary process	N/A	heterozygote	100% (2 of 2)
Maxillary process	N/A	homozygote	Ambiguous
Midbrain	N/A	heterozygote	100% (2 of 2)
Midbrain	N/A	homozygote	Ambiguous
Nose	N/A	heterozygote	100% (2 of 2)
Nose	N/A	homozygote	Ambiguous
Oral cavity	N/A	heterozygote	Ambiguous
Oral cavity	N/A	homozygote	Ambiguous
Skin	N/A	heterozygote	100% (2 of 2)
Skin	N/A	homozygote	Ambiguous
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	homozygote	Ambiguous
Tail somite	N/A	heterozygote	100% (2 of 2)
Tail somite	N/A	homozygote	Ambiguous
Tail	N/A	heterozygote	100% (2 of 2)
Tail	N/A	homozygote	Ambiguous

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
epididymis	Unavailable
esophagus	0.0%
eye	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
midbrain	0.0%
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
submandibular gland	0.0%
testis	0.0%
thalamus	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
urinary bladder
uterus	0.0%
vascular system	0.0%
vesicular gland	Unavailable
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	0.0%
dorsal root ganglion	Ambiguous
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
fronto-nasal process	Ambiguous
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
nose	Ambiguous
oral cavity	0.0%
skin	0.0%
spinal cord	Ambiguous
tail	0.0%
tail somite group	0.0%

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

8 Images

View images

X-ray

XRay Images Whole Body Lateral Orientation

8 Images

View images

Embryo LacZ

LacZ images wholemount

12 Images

View images

X-ray

XRay Images Skull Dorso Ventral Orientation

8 Images

View images

X-ray

XRay Images Forepaw

8 Images

View images

Adult LacZ

LacZ Images Section

30 Images

View images

X-ray

XRay Images Skull Lateral Orientation

8 Images

View images

Auditory Brain Stem Response

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

7 Images

View images

Electroretinography 2

Rod and cone PDF

1 Images

View images

Human diseases caused by Tlk1 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.

Human diseases associated with Tlk1 (0 diseases)
Human diseases predicted to be associated with Tlk1 (688 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Tlk1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Glutathione Peroxidase Deficiency	Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia	OMIM:614164
Hemoglobin E-Beta-Thalassemia Syndrome	Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia	ORPHA:231249
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Fava bean-induced hemolytic anemia, Hyperbilirubinemia	OMIM:618660
Hyperbilirubinemia, Shunt, Primary	Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp...	OMIM:237800
Red Cell Phospholipid Defect With Hemolysis	Splenomegaly, Reticulocytosis, Hyperbilirubinemia	OMIM:179700
Hemoglobin D Disease	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A...	ORPHA:90039
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co...	ORPHA:766
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con...	OMIM:301083
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Megaloblastic Anemia, Folate-Responsive	Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto...	OMIM:601775
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
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
Hemoglobin-Delta locus	Imbalanced hemoglobin synthesis, Anemia	OMIM:142000
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Elliptocytosis 2	Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis	OMIM:130600
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Spherocytosis, Type 4	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:612653
Spherocytosis, Type 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:616649
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen...	OMIM:620010
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno...	OMIM:616860
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Sideroblastic anemia, Increased circulating ferritin concentration, Elevated transferrin saturati...	OMIM:205950
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Spherocytosis, Type 1	Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia	OMIM:182900
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Rh-Null, Regulator Type	Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia	OMIM:268150
Anemia, Congenital Dyserythropoietic, Type Iv	Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti...	OMIM:613673
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph...	OMIM:235700
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Thrombocytopenia 7	Reduced platelet alpha granules, Impaired ristocetin-induced platelet aggregation, Impaired ADP-i...	OMIM:619130
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ...	ORPHA:3202
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu...	OMIM:603902
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Hemoglobin H Disease	Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin	OMIM:613978
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El...	ORPHA:232
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v...	ORPHA:98870
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Delta-Beta-Thalassemia	Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231237
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia	ORPHA:231242
Acetophenetidin Sensitivity	Hemolytic anemia, Methemoglobinemia	OMIM:200300
Bile Acid Synthesis Defect, Congenital, 5	Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile...	OMIM:616278
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S...	OMIM:224120
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Hemoglobin E Disease	Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega...	ORPHA:2133
Bleeding Disorder, Platelet-Type, 16	Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat...	OMIM:187800
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Pyruvate Kinase Deficiency Of Red Cells	Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple...	OMIM:266200
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Hereditary Elliptocytosis	Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,...	ORPHA:288
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki...	OMIM:300908
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Harderoporphyria	Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne...	OMIM:618892
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Persistence of hemoglobin F, Splenomegaly, Anemia	ORPHA:46532
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Rh Deficiency Syndrome	Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome...	ORPHA:71275
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Fanconi Anemia, Complementation Group V	Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia	OMIM:617243
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha...	OMIM:603552
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis	ORPHA:713
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Alpha-Thalassemia Myelodysplasia Syndrome	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:300448
Glycogen Storage Disease Vii	Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er...	OMIM:232800
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg...	OMIM:613101
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ...	ORPHA:398063
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Hemochromatosis, Type 5	Increased circulating ferritin concentration, Elevated transferrin saturation, Abnormal circulati...	OMIM:615517
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Cyanosis, Transient Neonatal	Reticulocytosis, Methemoglobinemia, Anemia	OMIM:613977
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia	OMIM:214900
Anemia, Hypochromic Microcytic, With Iron Overload 1	Decreased mean corpuscular volume, Increased serum iron, Elevated hepatic iron concentration, Ery...	OMIM:206100
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia, Anemia	OMIM:127000
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Drug-Induced Autoimmune Hemolytic Anemia	Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90037
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Transaldolase Deficiency	Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser...	ORPHA:101028
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos...	ORPHA:91547
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo...	ORPHA:848
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Iron-Refractory Iron Deficiency Anemia	Elevated circulating hepcidin concentration, Poikilocytosis, Hypochromic microcytic anemia, Aniso...	OMIM:206200
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt...	ORPHA:251380
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Hepatoportal Sclerosis	Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A...	ORPHA:64743
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Hereditary Spherocytosis	Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero...	ORPHA:822
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub...	OMIM:613280
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro...	OMIM:210250
Alpha-Thalassemia	Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia	ORPHA:846
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit...	OMIM:616050
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Glycogen Storage Disease Xii	Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic...	OMIM:611881
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Autosomal Dominant Hypophosphatemic Rickets	Iron deficiency anemia, Hypocalcemia, Hypophosphatemia	ORPHA:89937
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T...	OMIM:603553
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ...	OMIM:155100
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin...	OMIM:226990
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes	OMIM:269920
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Beta-Thalassemia	Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia	OMIM:613985
Alpha-Thalassemia	Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia	OMIM:604131
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Bile Acid Synthesis Defect, Congenital, 2	Splenomegaly, Hyperbilirubinemia	OMIM:235555
Mixed-Type Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Increased total bilirubin	ORPHA:90036
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru...	ORPHA:1667
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Anemia, Hypocalcemic seizures	ORPHA:93325
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Refractory Anemia With Excess Blasts	Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti...	ORPHA:86839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase...	OMIM:613845
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b...	ORPHA:79303
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia	ORPHA:289916
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia	ORPHA:27
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Bernard-Soulier Syndrome	Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo...	OMIM:231200
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Thrombocytopenia, Hypophospha...	OMIM:619743
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:79302
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Exercise-Induced Malignant Hyperthermia	Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia, Hypocalcemia...	ORPHA:466650
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia	ORPHA:79312
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ...	OMIM:617021
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin...	ORPHA:158061
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr...	OMIM:259720
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Hemorrhagic Fever-Renal Syndrome	Thrombocytopenia, Leukocytosis, Hyperkalemia, Elevated circulating creatinine concentration, Hype...	ORPHA:340
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:601847
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany, Hyp...	ORPHA:79443
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251110
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia	ORPHA:238459
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Acrodysostosis 1 With Or Without Hormone Resistance	Hyperphosphatemia	OMIM:101800
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Splenomegaly, Hypophosphatemia, Anemia	OMIM:239200
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia, Splenomegaly	OMIM:211600
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen...	OMIM:185070
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia	OMIM:607765
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Bone Marrow Failure Syndrome 6	Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia	OMIM:618849
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio...	OMIM:153670
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean...	OMIM:618278
Propionic Acidemia	Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia	OMIM:606054
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen...	OMIM:277900
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Hyperhomocystinemia...	OMIM:277380
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni...	ORPHA:158048
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Bile Acid Synthesis Defect, Congenital, 3	Splenomegaly, Hyperbilirubinemia	OMIM:613812
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester...	ORPHA:14
Hb Bart'S Hydrops Fetalis	Splenomegaly, Abnormal hemoglobin, Anemia	ORPHA:163596
Stuve-Wiedemann Syndrome 2	Thrombocytopenia	OMIM:619751
Lathosterolosis	Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno...	OMIM:607330
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope...	OMIM:251100
Beta-Thalassemia Intermedia	Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom...	ORPHA:231222
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Congenital Enterovirus Infection	Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa...	ORPHA:292
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Acquired Purpura Fulminans	Thrombocytopenia, Elevated circulating C-reactive protein concentration	ORPHA:49566
Vexas Syndrome	Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration	OMIM:301054
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Increased circulating ferritin concentration, Hypochromic microcytic anemia, Thrombocytopenia	ORPHA:3240
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Caroli Syndrome	Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Primary Familial Polycythemia	Polycythemia, Abnormal hemoglobin	ORPHA:90042
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp...	ORPHA:79277
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Graft Versus Host Disease	Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly	ORPHA:39812
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly	ORPHA:168577
Diffuse Alveolar Hemorrhage	Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia	ORPHA:90060
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:618775
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	ORPHA:79242
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Anemia, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal...	ORPHA:540
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T...	ORPHA:381
Cystic Echinococcosis	Eosinophilia, Hyperbilirubinemia, Splenic cyst	ORPHA:400
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Fumarase Deficiency	Polycythemia, Hyperbilirubinemia	OMIM:606812
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Thrombocytopenia, Hyperbilirubinemia	ORPHA:464321
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Autoimmune Hepatitis	Splenomegaly, Increased total bilirubin	ORPHA:2137
Mirage Syndrome	Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia	OMIM:617053
Pearson Syndrome	Reticulocytosis, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Splenomegaly, Neutropenia, Hypok...	ORPHA:699
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Stt3B-Cdg	Thrombocytopenia	ORPHA:370924
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614576
Necrotizing Enterocolitis	Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia	ORPHA:391673
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen...	ORPHA:206572
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Tularemia	Thrombocytopenia, Leukocytosis, Anemia	ORPHA:3392
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Congenital Disorder Of Glycosylation, Type Ix	Thrombocytopenia	OMIM:615597
Dominant Beta-Thalassemia	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ...	ORPHA:231226
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Reynolds Syndrome	Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia	OMIM:613471
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Caroli Disease	Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating alpha-fetoprotein...	ORPHA:53035
Beta-Thalassemia Major	Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad...	ORPHA:231214
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc...	ORPHA:567983
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Hereditary Methemoglobinemia	Methemoglobinemia	ORPHA:621
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Chédiak-Higashi Syndrome	Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul...	ORPHA:167
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Holocarboxylase Synthetase Deficiency	Thrombocytopenia, Hyperammonemia	OMIM:253270
Lysinuric Protein Intolerance	Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Intr...	OMIM:222700
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Senior-Boichis Syndrome	Hepatosplenomegaly, Anemia, Increased total bilirubin	ORPHA:84081
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia	OMIM:617303
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Castleman Disease	Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot...	ORPHA:160
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:301056
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin	ORPHA:423479
Dent Disease 1	Hypophosphatemia	OMIM:300009
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Peroxisome Biogenesis Disorder 5A (Zellweger)	Conjugated hyperbilirubinemia, Splenomegaly, Elevated circulating phytanic acid concentration, He...	OMIM:614866
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Bacterial Toxic-Shock Syndrome	Elevated circulating creatine kinase concentration, Elevated circulating creatinine concentration...	ORPHA:36234
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Sepsis In Premature Infants	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega...	ORPHA:90051
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased...	OMIM:617718
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy...	OMIM:260400
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Mccune-Albright Syndrome	Pancytopenia, Hypophosphatemia	ORPHA:562
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	HbH hemoglobin, Microcytic anemia	ORPHA:98791
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Splenomegaly	ORPHA:30391
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Rajab Interstitial Lung Disease With Brain Calcifications 1	Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia	OMIM:613658
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Ogden Syndrome	Thrombocytopenia, Iron deficiency anemia, Polycythemia, Hyperbilirubinemia	OMIM:300855
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:905
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Degcags Syndrome	Pancytopenia, Congenital hypoplastic anemia, Hepatosplenomegaly, Leukopenia, Iron deficiency anem...	OMIM:619488
Shigellosis	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ...	ORPHA:810
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Autosomal Recessive Malignant Osteopetrosis	Splenomegaly, Hypocalcemia, Anemia, Hypophosphatemia	ORPHA:667
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	High nonceruloplasmin-bound serum copper, Thrombocytopenia	ORPHA:457351
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Kasabach-Merritt Syndrome	Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An...	ORPHA:2330
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia, Neutropenia	ORPHA:163956
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperammonemia, Elevated circula...	ORPHA:79282
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Oculocerebrorenal Syndrome Of Lowe	Hyponatremia, Hypoammonemia, Anemia, Hypokalemia, Hypophosphatemia, Hypercholesterolemia, Thrombo...	ORPHA:534
Cranioectodermal Dysplasia 2	Splenomegaly, Polysplenia, Hyperbilirubinemia	OMIM:613610
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne...	OMIM:219800
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Lead Poisoning	Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol...	ORPHA:330015
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Acquired Methemoglobinemia	Methemoglobinemia	ORPHA:464453
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:617101
Raine Syndrome	Hypophosphatemia	OMIM:259775
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:464343
Lujo Hemorrhagic Fever	Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymphopenia, Thr...	ORPHA:319213
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Pediatric-Onset Graves Disease	Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia	ORPHA:525731
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia...	OMIM:619573
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Hyperbilirubinemia	OMIM:619475
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:79324
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Thrombocytopenia, Neutropenia	OMIM:616271
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia	ORPHA:505248
Aicardi-Goutieres Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:225750
Insulin-Resistance Syndrome Type B	Abnormal circulating fatty-acid concentration, Leukopenia, Hypotriglyceridemia, Hypoalbuminemia, ...	ORPHA:2298
Porphyria, Congenital Erythropoietic	Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly	OMIM:263700
Marburg Hemorrhagic Fever	Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Thymoma	Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis	ORPHA:99867
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Gaucher Disease, Perinatal Lethal	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	OMIM:608013
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F	OMIM:619769
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Farber Disease	Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:333
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi...	OMIM:615846
Gaucher Disease, Type Ii	Splenomegaly, Thrombocytopenia, Anemia	OMIM:230900
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Aplasia of the thymus, Unconjugated hyperbilirubinemia	OMIM:620186
Tick-Borne Encephalitis	Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration	ORPHA:297
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Neurooculorenal Syndrome	Conjugated hyperbilirubinemia	OMIM:620305
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat...	OMIM:619534
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia...	ORPHA:50918
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto...	ORPHA:1304
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormal hemoglobin, Anemia	ORPHA:847
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Mogs-Cdg	Thrombocytopenia, Hepatosplenomegaly	ORPHA:79330
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia	OMIM:301040
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Q Fever	Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly	ORPHA:781
Idiopathic Hypereosinophilic Syndrome	Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye...	ORPHA:3260
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619005
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Toxic Epidermal Necrolysis	Thrombocytopenia, Anemia, Neutropenia	ORPHA:537
Autosomal Recessive Polycystic Kidney Disease	Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr...	ORPHA:731
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Gaucher Disease	Pancytopenia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomega...	ORPHA:355
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Crimean-Congo Hemorrhagic Fever	Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu...	ORPHA:99827
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
22Q11.2 Deletion Syndrome	Abnormality of thrombocytes, Splenomegaly, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	ORPHA:567
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:2072
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
Sarcoidosis	Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen...	ORPHA:797
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Splenomegaly, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Leptospirosis	Hyperproteinemia, Thrombocytopenia	ORPHA:509
Acute Liver Failure	Thrombocytopenia, Hyperammonemia	ORPHA:90062
Digeorge Syndrome	Splenomegaly, Anemia, Hypoplasia of the thymus, Hypocalcemia, Thrombocytopenia	OMIM:188400
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Chronic lymphatic leukemia, Hepatosplenomegaly	ORPHA:51
Osteogenesis Imperfecta	Thrombocytopenia	ORPHA:666
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950

Histopathology

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

There is no histopathology data for Tlk1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tlk1.

No publications found that use IMPC mice or data for Tlk1.

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MGI Allele	Allele Type	Produced
Tlk1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Tlk1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Tlk1^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Tlk1 MGI:2441683

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

Embryo LacZ

X-ray

X-ray

Adult LacZ

X-ray

Auditory Brain Stem Response

Electroretinography 2

Human diseases caused by Tlk1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data