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Gene: Stk33 MGI:2152419

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Gene Summary

Name:
serine/threonine kinase 33
Synonyms:
4921505G21Rik

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
male infertility Stk33em1(IMPC)J HOM Early adult 0.00
thrombocytopenia Stk33em1(IMPC)J HOM Early adult 3.21×10-08
increased fasting circulating glucose level Stk33em1(IMPC)J HOM Early adult 4.48×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

7 Images

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X-ray

XRay Images Forepaw

7 Images

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X-ray

XRay Images Whole Body Dorso Ventral

7 Images

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X-ray

XRay Images Whole Body Lateral Orientation

7 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

7 Images

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Auditory Brain Stem Response

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

8 Images

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Human diseases caused by Stk33 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 Stk33 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Amegakaryocytic Thrombocytopenia, Congenital, 1
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:604498
Thrombocytopenia 7
Reduced platelet alpha granules, Impaired arachidonic acid-induced platelet aggregation, Reduced ... OMIM:619130
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:124900
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Splenomegaly, Abnormal hemoglobin, Thrombocytopenia, Anemia, Abnormal platelet function ORPHA:231393
Deleted in azoospermia
Azoospermia OMIM:400003
Bleeding Disorder, Platelet-Type, 19
Anemia, Macrothrombocytopenia, Thrombocytopenia, Menorrhagia OMIM:616176
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired arachidonic acid-induced platelet aggregation, Impaired epinephri... OMIM:619271
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Thrombocytopenia, Impaired platelet aggregation, Anemia, ... OMIM:187800
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia, Menorrhagia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia, Menorrhagia OMIM:613554
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Throm... OMIM:615193
Gray Platelet Syndrome
Abnormality of the menstrual cycle, Abnormality of thrombocytes, Splenomegaly, Thrombocytopenia ORPHA:721
Thrombocytopenia 9
Abnormal platelet aggregation, Thrombocytopenia OMIM:620478
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Von Willebrand Disease, Platelet-Type
Intermittent thrombocytopenia OMIM:177820
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Eosinophilia, Familial
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia OMIM:131400
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Leukemia OMIM:133180
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia OMIM:619523
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anemia, Thrombocytopenia, Neutropenia, Monocytosis OMIM:620534
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Impaired coll... OMIM:620486
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Giant platelets, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Thrombocy... OMIM:155100
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume ORPHA:494444
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Abnormal hemoglobin, Thrombocytopenia ORPHA:3319
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... OMIM:619041
Bleeding Disorder, Platelet-Type, 22
Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation... OMIM:618462
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Thrombocytopenia With Beta-Thalassemia, X-Linked
Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Splenomegaly,... OMIM:314050
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Thrombocytopenia OMIM:615715
Acute Myelomonocytic Leukemia
Anemia, Eosinophilia, Leukocytosis, Thrombocytopenia ORPHA:517
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Bernard-Soulier Syndrome
Giant platelets, Thrombocytopenia, Impaired ristocetin-induced platelet aggregation, Macrothrombo... OMIM:231200
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:615285
Diabetes Mellitus, Permanent Neonatal, 4
Elevated hemoglobin A1c, Hyperglycemia, Type I diabetes mellitus, Diabetic ketoacidosis OMIM:618858
Refractory Anemia
Normocytic anemia, Anemia of inadequate production, Macrocytic anemia, Erythroid hypoplasia, Neut... ORPHA:98826
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Fanconi Anemia, Complementation Group G
Leukemia, Anemia, Neutropenia, Thrombocytopenia OMIM:614082
Thrombocytopenia 2
Abnormal platelet shape, Abnormal platelet volume, Leukocytosis, Thrombocytopenia OMIM:188000
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia ORPHA:231401
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia OMIM:601410
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia OMIM:620481
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Bleeding Disorder, Platelet-Type, 21
Impaired ADP-induced platelet aggregation, Thrombocytopenia, Impaired platelet aggregation, Menor... OMIM:617443
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... ORPHA:75564
Polycythemia Vera
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Increased circul... OMIM:263300
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Maternal diabetes OMIM:610582
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Maternal diabetes, Elevated hemoglobin A1c, ... OMIM:616329
Thrombocytopenia 5
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... OMIM:616216
Fetal Parvovirus Syndrome
Anemia, Thrombocytopenia ORPHA:295
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Megaloblastic anemia, Neutropenia, Thrombocytopenia, Diabetes mellitus OMIM:598500
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Thrombocytopenia, Anisopoikilocytosis OMIM:617441
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Atypical Hemolytic Uremic Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:2134
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Quebec Platelet Disorder
Thrombocytopenia, Menorrhagia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia, Hypoplastic a... OMIM:159550
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia, Hypoglycemia ORPHA:67048
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:141000
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Elevated hemoglobin A1c OMIM:606176
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Pontocerebellar Hypoplasia, Type 15
Anemia, Chronic neutropenia, Thrombocytopenia OMIM:619302
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Impaired platelet aggregation, Macrocytic anemia, Anisocytosis,... OMIM:300835
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Hypochromic anemia, Anemia of inadequate production, Anisocytosis, Poikilocytosis, Macrothrombocy... ORPHA:67044
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young OMIM:609812
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Aicardi-Goutieres Syndrome 3
Hepatosplenomegaly, Thrombocytopenia OMIM:610329
Malaria
Anemia, Thrombocytopenia ORPHA:673
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Anemia, Bone-marrow foam cells OMIM:607616
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Fanconi Anemia, Complementation Group T
Anemia, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:616435
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Moyamoya Disease 6 With Or Without Achalasia
Impotence, Thrombocytopenia OMIM:615750
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:603552
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Slc35A1-Cdg
Thrombocytopenia, Neutropenia, Giant platelets, Abnormal platelet granules ORPHA:238459
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Stomatocytosis, Impaired ADP-induced platelet aggregation, Splenomegaly, Impaired collagen-relate... OMIM:153670
Immunodeficiency 46
Anemia, Neutropenia, Intermittent thrombocytopenia OMIM:616740
Nephrotic Syndrome, Type 7
Hemolytic anemia, Thrombocytopenia OMIM:615008
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Anemia, Hypersplenism, Splenomegaly, Thrombocytopenia OMIM:610539
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Gray Platelet Syndrome
Abnormal number of alpha granules, Impaired thrombin-induced platelet aggregation, Splenomegaly, ... OMIM:139090
Aicardi-Goutieres Syndrome 6
Hemolytic anemia, Splenomegaly, Thrombocytopenia OMIM:615010
Thrombocytopenia 10
Decreased mean platelet volume, Thrombocytopenia, Menorrhagia OMIM:620484
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Diabetes mellitus, Thrombocytopenia ORPHA:49827
Myh9-Related Disease
Giant platelets, Congenital thrombocytopenia, Neutrophil inclusion bodies, Menorrhagia, Increased... ORPHA:182050
Platelet Disorder, Undefined
Thrombocytopenia, Impaired platelet aggregation OMIM:173420
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Beta-Thalassemia
Microcytic anemia, Abnormal hemoglobin, Splenomegaly, Hypogonadotropic hypogonadism, Thrombocytop... ORPHA:848
Phosphoglycerate Dehydrogenase Deficiency
Megaloblastic anemia, Thrombocytopenia OMIM:601815
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Acanthocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Poikilocytosis OMIM:300367
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocytopenia, Anemia OMIM:613101
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Thrombocytopenia, Neutropenia, Anemia ORPHA:88
Bone Marrow Failure Syndrome 4
Anemia, Leukopenia, Thrombocytopenia OMIM:618116
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Neutropenia OMIM:617243
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Thrombocytopenia OMIM:616744
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thrombocytopenia, Diabetes mellitus, Thiamine-responsive megaloblastic anemia OMIM:249270
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Aicardi-Goutieres Syndrome 4
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:610333
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Thrombotic Thrombocytopenic Purpura
Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia ORPHA:54057
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Refractory anemia, Thrombocytopenia OMIM:231095
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Decreased FOXP3-expressing T cell count, Eosinophilia, Coombs-positive ... OMIM:304790
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Immunodeficiency 32B
Impaired oxidative burst, Splenomegaly, Eosinophilia, Monocytopenia, Thrombocytopenia, Neutrophil... OMIM:226990
Congenital Disorder Of Glycosylation, Type Iik
Thrombocytopenia OMIM:614727
Hermansky-Pudlak Syndrome 5
Impaired ADP-induced platelet aggregation, Metrorrhagia, Absent platelet dense granules, Thromboc... OMIM:614074
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Lymphoproliferative Syndrome, X-Linked, 1
Abnormal T cell count, Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Sp... OMIM:308240
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Absence of alpha granules, Thrombocytopenia, Macrothrombocytope... OMIM:187900
Immunodeficiency 98 With Autoinflammation, X-Linked
Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Autoimmune hemolytic anemia, Splenom... OMIM:301078
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Primary Myelofibrosis
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Throm... ORPHA:824
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Lymphopenia, Type I diabetes mellitus, Thrombocytopenia OMIM:620365
Von Willebrand Disease, Type 3
Thrombocytopenia, Menorrhagia, Impaired platelet aggregation OMIM:277480
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Thrombocytopenia, Macrothrombocytopenia, Neutropenia OMIM:603585
Babesiosis
Leukopenia, Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:108
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy, Pancytopenia, Thrombocytopenia OMIM:613987
Gaucher Disease, Type Iii
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:231000
Transaldolase Deficiency
Anemia, Hepatosplenomegaly, Thrombocytopenia ORPHA:101028
Immune Thrombocytopenia
Abnormal vaginal bleeding, Thrombocytopenia ORPHA:3002
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Osteopetrosis, Autosomal Recessive 8
Anemia, Splenomegaly, Thrombocytopenia OMIM:615085
Isovaleric Acidemia
Pancytopenia, Leukopenia, Thrombocytopenia OMIM:243500
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Amed Syndrome, Digenic
Anemia, Leukopenia, Acute myeloid leukemia, Thrombocytopenia OMIM:619151
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia OMIM:150550
Leishmaniasis
Pancytopenia, Leukopenia, Splenomegaly, Abnormal macrophage morphology, Thrombocytopenia, Anemia ORPHA:507
Sengers Syndrome
Premature ovarian insufficiency, Thrombocytopenia OMIM:212350
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus OMIM:222100
Osteopetrosis, Autosomal Recessive 4
Anemia, Splenomegaly, Thrombocytopenia, Reticulocytosis OMIM:611490
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Splenomegaly, Elevated proportion of CD4-negative, CD8-negative, alp... OMIM:603909
Congenital Toxoplasmosis
Anemia, Thrombocytopenia ORPHA:858
Diffuse Neonatal Hemangiomatosis
Anemia, Thrombocytopenia ORPHA:2123
Congenital Rubella Syndrome
Anemia, Type I diabetes mellitus, Splenomegaly, Thrombocytopenia ORPHA:290
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Splenomega... ORPHA:158057
Autoinflammation With Infantile Enterocolitis
Reduced natural killer cell count, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:616050
Classic Galactosemia
Hypoglycemia, Decreased fertility in females, Oligomenorrhea, Abnormal erythrocyte enzyme concent... ORPHA:79239
Isolated Agammaglobulinemia
Anemia, Abnormal lymphocyte morphology, Abnormality of neutrophils, Thrombocytopenia ORPHA:229717
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Neutropenia ORPHA:289916
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute monocytic leukemia, Impaired arachidonic acid-induced platelet aggregation, Abnormal dense ... OMIM:601399
Vitamin B12-Unresponsive Methylmalonic Acidemia
Anemia, Leukopenia, Thrombocytopenia, Macrocytic anemia ORPHA:27
Immunodeficiency 97 With Autoinflammation
Decreased proportion of CD4+CD25+ regulatory T cells, Reduced natural killer cell count, Hemophag... OMIM:619802
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Anemia, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
Atelis Syndrome 1
Anemia, Leukopenia, Thrombocytopenia OMIM:620184
Specific Granule Deficiency 2
Anemia, Absent neutrophil specific granules, Thrombocytopenia, Neutropenia OMIM:617475
Immunodeficiency 114, Folate-Responsive
Lymphopenia, Megaloblastic anemia, Splenomegaly, Thrombocytopenia OMIM:620603
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia OMIM:152700
Wolfram Syndrome 1
Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Testicular atrophy, Diabetes mellitus OMIM:222300
Propionic Acidemia
Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:606054
Insulin-Resistance Syndrome Type B
Postprandial hyperglycemia, Insulin resistance, Glycosuria, Insulin-resistant diabetes mellitus, ... ORPHA:2298
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Megaloblastic anemia, Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia OMIM:613839
Pelger-Huet Anomaly
Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Neutropenia, Abnormalit... OMIM:169400
Mody
Glycosuria, Insulin-resistant diabetes mellitus, Hyperglycemia, Elevated hemoglobin A1c, Glucose ... ORPHA:552
Lig4 Syndrome
Pancytopenia, Type II diabetes mellitus, Amenorrhea, Thrombocytopenia, Acute lymphoblastic leukemia OMIM:606593
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pancytopenia, Leukopenia, Thrombocytopenia, Anemia, Diabetes mellitus OMIM:613845
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukocytosis, Increased proportion of CD25+ mast... ORPHA:98850
Gamma-Heavy Chain Disease
Abnormal lymphocyte morphology, Splenomegaly, Autoimmune hemolytic anemia, Thrombocytopenia, Anem... ORPHA:100026
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Increased mean corpuscular volume, Extramedullary hematopoiesis, Sideroblastic anemia, Erythroid ... OMIM:617021
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Agammaglobulinemia 9, Autosomal Recessive
Absent circulating B cells, Thrombocytopenia OMIM:619693
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Diabetes Mellitus, Permanent Neonatal, 3
Hyperglycemia, Type I diabetes mellitus, Glycosuria OMIM:618857
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Abnormal neutrophil count, Myelopro... ORPHA:3226
Aregenerative Anemia
Pancytopenia, Decreased proportion of CD4-positive helper T cells, Abnormal proportion of CD8-pos... ORPHA:101096
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Von Willebrand Disease
Abnormality of thrombocytes, Microcytic anemia, Thrombocytopenia, Abnormal platelet function, Men... ORPHA:903
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Retinitis Pigmentosa And Erythrocytic Microcytosis
Leukopenia, Elliptocytosis, Anisocytosis, Hypochromia, Poikilocytosis, Anemia, Thrombocytopenia, ... OMIM:616959
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Hemolytic anemia ORPHA:398124
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemi... OMIM:227650
Rhabdoid Tumor
Anemia, Thrombocytopenia ORPHA:69077
Acute Promyelocytic Leukemia
Leukopenia, Pancytopenia, Leukocytosis, Metrorrhagia, Neutropenia, Thrombocytopenia, Anemia ORPHA:520
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia, Hypoglycemia OMIM:611126
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia, Hypoglycemia OMIM:617710
Fetal Gaucher Disease
Abnormality of the spleen, Pancytopenia, Splenomegaly, Thrombocytopenia ORPHA:85212
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, B lymphocytopenia, Thrombocytopenia, Increased CD4:CD8 ratio OMIM:618048
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia OMIM:605432
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Leukopenia, Neutropenia, Thrombocytopenia, Hypoglycemia OMIM:251000
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Hepatosplenomegaly, Thrombocytopenia ORPHA:210136
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Tularemia
Anemia, Leukocytosis, Thrombocytopenia ORPHA:3392
Necrotizing Enterocolitis
Hyperglycemia, Leukocytosis, Abnormal glucose homeostasis, Thrombocytopenia, Neutropenia ORPHA:391673
Immunodeficiency, Common Variable, 8, With Autoimmunity
Type I diabetes mellitus, Pancytopenia, Autoimmune hemolytic anemia, Splenomegaly, Decreased prop... OMIM:614700
Methylmalonic Aciduria, Cblb Type
Hypoglycemia, Pancytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:251110
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Mirage Syndrome
Hypoglycemia, Lymphopenia, Leukopenia, Thrombocytopenia, Anemia, Hypoplastic spleen, Hypergonadot... OMIM:617053
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Hemophagocytosis, Hepatosplenomegaly, Thrombocytopenia, Monocytosis OMIM:619644
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Leukocytosis, Anemia of inadequate production, Acute myeloid le... ORPHA:86839
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612924
Preeclampsia
Type I diabetes mellitus, Thrombocytopenia ORPHA:275555
Osteopetrosis, Autosomal Recessive 2
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Thrombocytopenia, Anemia OMIM:259710
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Smith-Kingsmore Syndrome
Thrombocytopenia, Hypoglycemia OMIM:616638
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Letterer-Siwe Disease
Anemia, Hepatosplenomegaly, Neutropenia, Thrombocytopenia OMIM:246400
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Lymphopenia, Hepatosplenomegaly, Decreased proportion of CD3-positive T ce... ORPHA:331206
Relapsing Fever
Leukopenia, Leukocytosis, Thrombocytopenia, Neutrophilia, Anemia ORPHA:91547
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612926
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Leukocytosis, Thrombocytopenia ORPHA:83601
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Thrombocytopenia, B lymphocytopenia... OMIM:603554
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Lymphopenia, Leukopenia, Neutropenia, Schistocytosis, Anemia, Thrombocytopenia, Hemolytic anemia OMIM:301110
Cog4-Cdg
Hepatosplenomegaly, Thrombocytopenia ORPHA:263501
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Thrombocytopenia, Normochromic anemia, Neutropenia OMIM:614857
Hereditary Folate Malabsorption
Eosinophilia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia ORPHA:90045
Good Syndrome
Anemia, Diabetes mellitus, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:169105
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... ORPHA:98849
Wilson Disease
Abnormality of the menstrual cycle, Anemia, Splenomegaly, Thrombocytopenia ORPHA:905
Griscelli Syndrome
Splenomegaly, Abnormality of neutrophils, Leukopenia, Thrombocytopenia ORPHA:381
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anemia, Thrombocytopenia, Microangiopathic hemolytic anemia OMIM:612925
Thrombocytopenia 1
Decreased mean platelet volume, Congenital thrombocytopenia, Intermittent thrombocytopenia OMIM:313900
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia OMIM:230800
Fanconi Anemia, Complementation Group E
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:600901
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Diffuse Alveolar Hemorrhage
Anemia, Leukocytosis, Thrombocytopenia ORPHA:90060
Congenital Disorder Of Glycosylation, Type Ih
Anemia, Thrombocytopenia OMIM:608104
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Neutropenia, Thrombocytopenia, Anemia, Abnormal natural killer ce... ORPHA:158061
Congenital Enterovirus Infection
Leukopenia, Leukocytosis, Abnormal macrophage morphology, Neutropenia, Thrombocytopenia, Anemia ORPHA:292
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Anemia, Thrombocytopenia, Neutropenia OMIM:614520
Transaldolase Deficiency
Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:606003
X-Linked Agammaglobulinemia
Anemia, Thrombocytopenia, Neutropenia ORPHA:47
Stormorken Syndrome
Howell-Jolly bodies, Thrombocytopenia, Anemia, Asplenia, Hypoplastic spleen OMIM:185070
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Prolidase Deficiency
Anemia, Splenomegaly, Thrombocytopenia OMIM:170100
Fetal Cytomegalovirus Syndrome
Anemia, Splenomegaly, Thrombocytopenia ORPHA:294
Drug-Induced Lupus Erythematosus
Anemia, Thrombocytopenia ORPHA:231111
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume OMIM:620475
Hepatoportal Sclerosis
Hypersplenism, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia ORPHA:64743
Beemer-Ertbruggen Syndrome
Thrombocytopenia ORPHA:1237
Chediak-Higashi Syndrome
Hemophagocytosis, Leukopenia, Giant neutrophil granules, Splenomegaly, Abnormal dense granules, N... OMIM:214500
Cholesteryl Ester Storage Disease
Hepatosplenomegaly, Leukopenia, Hypersplenism, Splenomegaly, Thrombocytopenia, Anemia, Bone-marro... OMIM:278000
Dyskeratosis Congenita, Autosomal Dominant 2
Aplastic anemia, Pancytopenia, Leukopenia, Thrombocytopenia, Neutropenia OMIM:613989
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Splenomegaly, Thrombocytopenia OMIM:620367
Fanconi Anemia, Complementation Group B
Hypogonadism, Thrombocytopenia, Aplastic anemia, Hypergonadotropic hypogonadism OMIM:300514
Felty Syndrome
Abnormal lymphocyte morphology, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:47612
Congenital Disorder Of Glycosylation, Type Iil
Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:614576
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Neonatal hypoglycemia, Thrombocytopenia, Neutropenia OMIM:616271
Acyl-Coa Dehydrogenase 9 Deficiency
Nonketotic hypoglycemia, Thrombocytopenia ORPHA:99901
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Decreased proportion of memory B cells, Hepatosplenomegaly, Pancytopenia, Abnormal lymphocyte cou... ORPHA:79124
Dengue Fever
Leukopenia, Thrombocytopenia ORPHA:99828
Thrombotic Thrombocytopenic Purpura, Hereditary
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:274150
Hermansky-Pudlak Syndrome 2
Reduced natural killer cell count, Enlarged platelet dense granules, Hepatosplenomegaly, Decrease... OMIM:608233
Snakebite Envenomation
Thrombocytopenia ORPHA:449285
Cyclic Neutropenia
Lymphopenia, Decreased eosinophil count, Cyclic neutropenia, Thrombocytopenia ORPHA:2686
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... ORPHA:91
Schimke Immunoosseous Dysplasia
Lymphopenia, Pancytopenia, Abnormal T cell morphology, Thrombocytopenia, Neutropenia, Anemia OMIM:242900
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Thrombocytopenia, Hypochromic microcytic anemia ORPHA:3240
Alg8-Cdg
Anemia, Thrombocytopenia ORPHA:79325
Pearson Marrow-Pancreas Syndrome
Type I diabetes mellitus, Sideroblastic anemia, Pancytopenia, Refractory sideroblastic anemia, Re... OMIM:557000
Osteopetrosis, Autosomal Recessive 1
Anemia, Pancytopenia, Splenomegaly, Thrombocytopenia OMIM:259700
Holocarboxylase Synthetase Deficiency
Thrombocytopenia ORPHA:79242
Pseudo-Torch Syndrome 3
Anemia, Leukocytosis, Congenital thrombocytopenia OMIM:618886
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Acquired Purpura Fulminans
Thrombocytopenia ORPHA:49566
Dyskeratosis Congenita, Autosomal Dominant 3
Aplastic anemia, Pancytopenia, Leukopenia, Macrocytic anemia, Neutropenia, Thrombocytopenia, Anemia OMIM:613990
Tafro Syndrome
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Thrombocytopenia, Anemia ORPHA:457077
Shwachman-Diamond Syndrome
Normocytic anemia, Aplastic anemia, Increased mean corpuscular volume, Pancytopenia, Leukopenia, ... ORPHA:811
Bernard-Soulier Syndrome
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Impaired ristocetin-induced platelet ag... ORPHA:274
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Leukopenia, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, A... OMIM:603553
Overlap Myositis
Leukopenia, Diabetes mellitus, Thrombocytopenia ORPHA:206572
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
Fanconi Anemia, Complementation Group C
Pancytopenia, Anemia, Reticulocytopenia, Neutropenia, Thrombocytopenia, Leukemia, Hypergonadotrop... OMIM:227645
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Leukopenia, Reticulocytopenia, B lymphocytopenia, Neutropenia, Thrombocytopenia, Anemia ORPHA:508542
Familial Hemophagocytic Lymphohistiocytosis
Hemophagocytosis, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia ORPHA:540
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Schistocytosis, Thrombocytopenia, Reticulocytosis, Microangiopathic hemolytic anemia OMIM:235400
Bone Marrow Failure Syndrome 3
Aplastic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Pancytopenia, Ac... OMIM:617052
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia, Anemia OMIM:277380
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Thrombocytopenia OMIM:301056
Immunodeficiency 40
T lymphocytopenia, Thrombocytopenia OMIM:616433
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hemolytic anemia, Splenomegaly, Thrombocytopenia ORPHA:169090
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Anemia OMIM:267700
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Leukocytosis, Thrombocytopenia, Anemia, Normocytic ... OMIM:610377
Dyskeratosis Congenita, Autosomal Dominant 1
Increased mean corpuscular volume, Aplastic anemia, Lymphopenia, Leukopenia, Thrombocytopenia, An... OMIM:127550
Congenital Disorder Of Glycosylation, Type Iig
Anemia, Giant platelets, Thrombocytopenia OMIM:611209
Hoyeraal-Hreidarsson Syndrome
Anemia, Thrombocytopenia, Abnormal leukocyte morphology ORPHA:3322
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Methylmalonic Aciduria, Cbla Type
Anemia, Pancytopenia, Thrombocytopenia, Neutropenia OMIM:251100
Shwachman-Diamond Syndrome 1
Persistence of hemoglobin F, Pancytopenia, Acute myeloid leukemia, Neutropenia, Thrombocytopenia,... OMIM:260400
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Mucopolysaccharidosis-Plus Syndrome
Leukopenia, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia OMIM:617303
Hemophagocytic Syndrome Associated With An Infection
Hemophagocytosis, Pancytopenia, Abnormal T cell subset distribution, Splenomegaly, Neutropenia, T... ORPHA:158048
Pediatric Systemic Lupus Erythematosus
Lymphopenia, Leukopenia, Thrombocytopenia, Microangiopathic hemolytic anemia ORPHA:93552
Wiskott-Aldrich Syndrome
Abnormal eosinophil morphology, Acute leukemia, Abnormality of the menstrual cycle, Lymphopenia, ... ORPHA:906
Gaucher Disease Type 1
Splenic infarction, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Leukopenia, Splenomegaly, Sp... ORPHA:77259
Avian Influenza
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:454836
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Leukopenia, Splenomegaly, Erythroid hypoplasia, Hypoplasia of th... OMIM:612541
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Pediatric-Onset Graves Disease
Thrombocytopenia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies ORPHA:525731
Ebola Hemorrhagic Fever
Lymphopenia, Leukopenia, Thrombocytopenia ORPHA:319218
Down Syndrome
Polycythemia, Decreased fertility, Type II diabetes mellitus, Acute megakaryocytic leukemia, Thro... ORPHA:870
Kasabach-Merritt Phenomenon
Microangiopathic hemolytic anemia, Leukopenia, Reticulocytosis, Neutropenia, Thrombocytopenia, An... ORPHA:2330
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Kaposiform Lymphangiomatosis
Hepatosplenomegaly, Splenomegaly, Metrorrhagia, Abnormal spleen morphology, Thrombocytopenia, Anemia ORPHA:464329
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Hypoc... OMIM:259720
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Thrombocytopenia, Splenomegaly, Hypoglycemia OMIM:251880
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia OMIM:301054
Multiple Mitochondrial Dysfunctions Syndrome 7
Hyperglycemia, Thrombocytopenia, Hypoglycemia OMIM:620423
Immunodeficiency 22
Anemia, Decreased proportion of CD4-positive helper T cells, Thrombocytopenia OMIM:615758
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Thrombocytopenia ORPHA:572798
Proteasome-Associated Autoinflammatory Syndrome 3
Anemia, Lymphopenia, Splenomegaly, Thrombocytopenia OMIM:617591
Immunodeficiency With Hyper-Igm, Type 1
Thrombocytopenia, Hemolytic anemia, Splenomegaly, Neutropenia OMIM:308230
Diamond-Blackfan Anemia
Macrocytic dyserythropoietic anemia, Increased mean corpuscular volume, Persistence of hemoglobin... ORPHA:124
Combined Oxidative Phosphorylation Deficiency 14
Anemia, Thrombocytopenia OMIM:614946
Congenital Syphilis
Hypoglycemia, Extramedullary hematopoiesis, Hepatosplenomegaly, Thrombocytopenia, Anemia ORPHA:499009
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Thrombocytopenia, Normochromic anemia OMIM:618775
Paroxysmal Nocturnal Hemoglobinuria
Glycosuria, Pancytopenia, Hemolytic anemia, Leukopenia, Reticulocytosis, Erythroid hyperplasia, A... ORPHA:447
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Shigellosis
Microangiopathic hemolytic anemia, Hypoglycemia, Leukocytosis, Splenic abscess, Thrombocytopenia ORPHA:810
Catastrophic Antiphospholipid Syndrome
Thrombocytopenia, Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia ORPHA:464343
Recon Progeroid Syndrome
Anemia, Thrombocytopenia OMIM:620370
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Chédiak-Higashi Syndrome
Abnormality of neutrophil physiology, Hemophagocytosis, Abnormal natural killer cell morphology, ... ORPHA:167
Arthrogryposis, Renal Dysfunction, And Cholestasis 1