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Gene: Abhd10 MGI:2442422

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Gene Summary

Name:
abhydrolase domain containing 10
Synonyms:
D230019K24Rik

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 Abhd10em1(IMPC)Mbp HOM Early adult 0.00
increased eosinophil cell number Abhd10em1(IMPC)Mbp HOM   Early adult 6.56×10-05
increased circulating bilirubin level Abhd10em1(IMPC)Mbp HOM Early adult 2.09×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

30 Images

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Human diseases caused by Abhd10 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 Abhd10 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Spermatogenic Failure 17
Male infertility OMIM:617214
Immunodeficiency 88
Eosinophilia OMIM:619630
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
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
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Decreased serum iron, Hypereosinophilia, Abnormal proportion of CD8-positi... OMIM:212050
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Splenomegaly, Eosinophilia OMIM:607685
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure, X-Linked, 6
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... OMIM:301101
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Generalized Eruptive Histiocytosis
Leukemia, Hypereosinophilia, Histiocytosis ORPHA:157991
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Kimura Disease
Eosinophilia ORPHA:482
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia, Elevated circulating creatine kinase concentration OMIM:253600
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Cryptorchidism, Hypogonadism, Neonatal hyperbilirubinemia ORPHA:3363
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:601859
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Cinca Syndrome
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hepatosplenome... OMIM:607115
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia OMIM:619949
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size ORPHA:98798
Wells Syndrome
Eosinophilia ORPHA:901
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia, Abnormally low T cell receptor excision circle level OMIM:618092
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Eosinophilic Gastroenteritis
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... ORPHA:2070
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Hepatosp... ORPHA:169154
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia OMIM:301060
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Eosinophilia, Cutaneous abscess OMIM:147060
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Immunodeficiency 7
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Neutropenia OMIM:615387
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia OMIM:108420
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Roifman Syndrome
Hypogonadotropic hypogonadism, Eosinophilia, Hepatosplenomegaly ORPHA:353298
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Immunodeficiency 25
T lymphocytopenia, Autoimmune hemolytic anemia, Eosinophilia OMIM:610163
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia OMIM:620103
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Roifman Syndrome
Splenomegaly, Eosinophilia OMIM:616651
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Lymphopenia, Eosinophilia, Hepatosplenomegaly ORPHA:169160
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Idiopathic Chronic Eosinophilic Pneumonia
Leukocytosis, Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:2902
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Omenn Syndrome
Eosinophilia, Splenomegaly, Leukocytosis, Abnormal lymphocyte morphology, Anemia ORPHA:39041
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Cystic Echinococcosis
Abscess, Abnormality of the testis size, Eosinophilia, Hyperbilirubinemia, Splenic cyst, Peritone... ORPHA:400
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hepatosplenomegaly OMIM:618999
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count, Eosinophilia OMIM:243700
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Sterile abscess, Eosinophilia, Cutaneous abscess OMIM:618282
Autoinflammation With Arthritis And Dyskeratosis
Splenomegaly, Autoimmune hemolytic anemia, Hypereosinophilia, Elevated circulating C-reactive pro... OMIM:617388
Congenital Bile Acid Synthesis Defect Type 2
Conjugated hyperbilirubinemia, Extramedullary hematopoiesis, Hyperbilirubinemia, Abnormal serum b... ORPHA:79303
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Bilateral cryptorchidism, Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hyperbilirubinemia OMIM:235555
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Igg4-Related Aortitis
Hypereosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449400
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T... ORPHA:911
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Spermatogenic Failure 28
Male infertility, Non-obstructive azoospermia, Decreased testicular size OMIM:618086
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Aplasia of the thymus, Eosinophilia, Splenomegaly, B lymphocytopenia, Abnormally low T cell recep... OMIM:602450
Late-Onset Isolated Acth Deficiency
Hyponatremia, Normocytic anemia, Macrocytic anemia, Premature ovarian insufficiency, Hypercalcemi... ORPHA:199299
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures ORPHA:2239
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility, Asplenia OMIM:618948
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Aspergillosis
Eosinophilia, Neutropenia ORPHA:1163
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia OMIM:300985
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia OMIM:277180
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Immunodeficiency 23
Hemolytic anemia, Eosinophilia, Abscess, Neutropenia, Lymphopenia OMIM:615816
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Obstructive azoospermia, Oligozoospermia ORPHA:48
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Bachmann-Bupp Syndrome
Cryptorchidism, Hyperbilirubinemia OMIM:619075
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Netherton Syndrome
Hypereosinophilia OMIM:256500
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Macroorchidism, Oligozoospermia ORPHA:3000
Autoimmune Lymphoproliferative Syndrome
Reticulocytosis, Autoimmune hemolytic anemia, Premature ovarian insufficiency, Eosinophilia, Auto... ORPHA:3261
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of the thymus, Eosinophilia, Autoi... OMIM:102700
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Drug Reaction With Eosinophilia And Systemic Symptoms
Eosinophilia, Lymphocytosis ORPHA:139402
Cholestasis, Progressive Familial Intrahepatic, 8
Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce... OMIM:619662
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Immunodeficiency 89 And Autoimmunity
Decreased eosinophil count, Hypochromic microcytic anemia, Elevated circulating C-reactive protei... OMIM:619632
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia OMIM:607765
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia OMIM:614886
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hypochr... OMIM:259720
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Hypogonadism, Neonatal hyperbilirubinemia ORPHA:73272
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Spermatogenic Failure 14
Male infertility, Azoospermia OMIM:615842
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Fanconi-Bickel Syndrome
Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent... OMIM:227810
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia OMIM:301077
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Bile Acid Synthesis Defect, Congenital, 3
Splenomegaly, Hyperbilirubinemia OMIM:613812
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Ring Chromosome Y Syndrome
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... ORPHA:261529
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, Hypereosinophilia, T lymphocytopenia, Decreased pro... ORPHA:508533
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... OMIM:557000
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Graft Versus Host Disease
Hemophagocytosis, Hyperbilirubinemia, Hepatosplenomegaly ORPHA:39812
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Alveolar Echinococcosis
Liver abscess, Eosinophilia, Abnormal spleen morphology, Anemia, Cutaneous abscess ORPHA:284
Caroli Syndrome
Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilir... ORPHA:480520
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Conjugated hyperbilirubinemia, Thrombocytopenia OMIM:208085
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Conjugated hyperbilirubinemia OMIM:613404
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia OMIM:617093
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Classic Galactosemia
Male infertility, Premature ovarian insufficiency, Decreased fertility in females, Abnormal eryth... ORPHA:79239
Igg4-Related Pachymeningitis
Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449427
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Lathosterolosis
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... OMIM:607330
Incontinentia Pigmenti
Eosinophilia ORPHA:464
Incontinentia Pigmenti
Leukocytosis, Eosinophilia OMIM:308300
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Lymphatic Filariasis
Orchitis, Hypereosinophilia, Vaginal hydrocele, Hydrocele testis ORPHA:2035
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Coccidioidomycosis
Eosinophilia, Abscess, Abnormality of the spleen, Granuloma, Abnormal sperm morphology ORPHA:228123
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Thrombocytopenia, Hypocalcemia, Hyperbilirubinemia, Anemia ORPHA:163979
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Caroli Disease
Liver abscess, Conjugated hyperbilirubinemia, Splenomegaly, Leukocytosis, Abnormal circulating al... ORPHA:53035
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Polysplenia, Immotile sperm OMIM:613807
Igg4-Related Ophthalmic Disease
Orchitis, Prostatitis, Eosinophilia, Elevated circulating C-reactive protein concentration ORPHA:449563
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbil... ORPHA:90674
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Cryptorchidism, Splenomegaly, Elevated circulating phytanic acid c... OMIM:614866
Igg4-Related Submandibular Gland Disease
Prostatitis, Eosinophilia ORPHA:449432
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Parenteral Nutrition-Associated Cholestasis
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Abnormal circulating fatty-acid conc... ORPHA:567983
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Reynolds Syndrome
Calcinosis, Splenomegaly, Lymphopenia, Hyperbilirubinemia OMIM:613471
Igg4-Related Kidney Disease
Eosinophilia, Elevated circulating C-reactive protein concentration, Elevated circulating creatin... ORPHA:449395
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Mirizzi Syndrome
Hyperbilirubinemia ORPHA:521219
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Neonatal hyperbilirubinemia, Recurrent cutaneous abscess formation, Neutropenia ORPHA:163956
Ogden Syndrome
Cryptorchidism, Hydrocele testis, Iron deficiency anemia, Hyperbilirubinemia, Polycythemia, Decre... OMIM:300855
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Primary Biliary Cholangitis
Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia ORPHA:186
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Degcags Syndrome
Pancytopenia, Congenital hypoplastic anemia, Cryptorchidism, Hepatosplenomegaly, Leukopenia, Iron... OMIM:619488
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Isolated Biliary Atresia
Conjugated hyperbilirubinemia, Splenomegaly ORPHA:30391
Senior-Boichis Syndrome
Hepatosplenomegaly, Anemia, Increased total bilirubin ORPHA:84081
Sarcoidosis
Hemolytic anemia, Hypercalcemia, Eosinophilia, Thrombocytopenia, Increased T cell count, Leukopen... ORPHA:797
Fructose Intolerance, Hereditary
Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia OMIM:229600
Hereditary Amyloidosis With Primary Renal Involvement
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:85450
Cranioectodermal Dysplasia 2
Splenomegaly, Polysplenia, Hyperbilirubinemia OMIM:613610
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Abnormality of the menstrual... ORPHA:906
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Fanconi Anemia, Complementation Group A
Male infertility, Pancytopenia, Hypergonadotropic hypogonadism, Cryptorchidism, Thrombocytopenia,... OMIM:227650
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia OMIM:301068
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Cushing Disease
Leukocytosis, Secondary amenorrhea, Oligomenorrhea, Abnormal libido, Decreased eosinophil count, ... ORPHA:96253
Rajab Interstitial Lung Disease With Brain Calcifications 1
Pancytopenia, Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia, Anemia OMIM:613658
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
47,Xyy Syndrome
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism ORPHA:8
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Tropical Endomyocardial Fibrosis
Splenomegaly, Hypoalbuminemia, Eosinophilia ORPHA:75565
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cryptorchidism, Hyperbilirubinemia OMIM:210710
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Hydrocele testis, Aplasia of the thymus, Unconjugated hyperbilirubinemia OMIM:620186
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia, Cryptorchidism OMIM:620305
Primary Ciliary Dyskinesia
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility ORPHA:244
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... ORPHA:90793
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility ORPHA:99429
Biliary, Renal, Neurologic, And Skeletal Syndrome
Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Splenomegaly, Elevat... OMIM:619534
Viss Syndrome
Hypereosinophilia OMIM:619472
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Splenomegaly, Hepatosplenomegaly, Hypoalbuminemia, Histiocytosis ORPHA:171
Ciliary Dyskinesia, Primary, 1
Male infertility, Asplenia OMIM:244400
Partial Androgen Insensitivity Syndrome
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction ORPHA:90797
Cushing Syndrome Due To Ectopic Acth Secretion
Leukocytosis, Secondary amenorrhea, Oligomenorrhea, Abnormal libido, Decreased eosinophil count, ... ORPHA:99889
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
46,Xy Partial Gonadal Dysgenesis
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... ORPHA:251510
Johanson-Blizzard Syndrome
Increased VLDL cholesterol concentration, Conjugated hyperbilirubinemia, Cryptorchidism, Splenome... OMIM:243800
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Cystinosis, Nephropathic
Hyponatremia, Male infertility, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypo... OMIM:219800

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 Abhd10

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 Abhd10.

No publications found that use IMPC mice or data for Abhd10.

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MGI Allele Allele Type Produced
Abhd10tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Abhd10em1(IMPC)Mbp Inter-exon deletion Mice, Tissue

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