Gene: Setx MGI:2443480

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Gene Summary

Name:
senataxin
Synonyms:
A930037J23Rik,  Als4

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased neutrophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 5.49×10-06
increased monocyte cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 7.84×10-10
improved glucose tolerance Setxtm1b(EUCOMM)Wtsi HOM Early adult 1.37×10-05
male infertility Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased eosinophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
small testis Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased lymphocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 6.23×10-06
decreased leukocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 9.29×10-05
increased NK cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 2.36×10-05
decreased total retina thickness Setxtm1b(EUCOMM)Wtsi HOM Early adult 9.68×10-05

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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

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

16 Images

Immunophenotyping

Panel B FCS file(s)

11 Images

Immunophenotyping

Panel A FCS file(s)

11 Images

Human diseases caused by Setx mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
ORPHA:64753
Amyotrophic Lateral Sclerosis 4, Juvenile
OMIM:602433
Amyotrophic Lateral Sclerosis Type 4
ORPHA:357043
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
OMIM:606002

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Isochromosomy Yp
Ambiguous genitalia, Azoospermia, Decreased testicular size, Male infertility, Primary gonadal in... ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 16
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 24
Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coiled sperm flagella, Shor... OMIM:617959
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Deafness-Infertility Syndrome
Abnormal spermatogenesis, Male infertility, Reduced sperm motility OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Infertility, Abnormal sperm morphology OMIM:608653
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Male infertility, Bilateral cryptorchidism, Abnormali... OMIM:261550
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Monocytosis, Thrombocytosis, Acute monocytic leukemia, Neutropenia, A... OMIM:202700
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Eosinophilia, Familial
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia OMIM:131400
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Spermatogenic Failure 9
Globozoospermia OMIM:613958
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Male hypogonadism, Azoospermia, Hyperplasia of the Leydig cells, Bilater... ORPHA:52901
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Myeloproliferative Disorder, Chronic, With Eosinophilia
Myeloproliferative disorder, Eosinophilia OMIM:131440
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
Immunodeficiency 8
Lymphopenia OMIM:615401
Juvenile Temporal Arteritis
Leukocytosis, Eosinophilia ORPHA:26137
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Acute Myelomonocytic Leukemia
Leukocytosis, Thrombocytopenia, Eosinophilia, Anemia ORPHA:517
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia ORPHA:2582
Hypogonadism, Male
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis OMIM:241100
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphocytosis, Monocytosis, Hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia, Pancytope... OMIM:614470
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Monocytosis, Acute myeloid leukemia, Leukopenia, Refractory anemia, Bone marrow hypocellularity OMIM:616871
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Macrosomia Adiposa Congenita
Adrenocortical adenoma, Eosinophilia OMIM:248100
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Azoospermia, Hypothyroidism, Primary amenorrhea, ... OMIM:612885
Generalized Eruptive Histiocytosis
Histiocytosis, Leukemia, Hypereosinophilia ORPHA:157991
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Hypogonadotropic Hypogonadism 23 Without Anosmia
Androgen insufficiency, Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis... OMIM:228300
T-Cell Receptor-Alpha/Beta Deficiency
Hypereosinophilia OMIM:615387
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Type II diabetes mellitus, Oligospermia OMIM:615703
Androgen Insensitivity, Partial
Infertility, Cryptorchidism, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Hypereosinophilic Syndrome, Idiopathic
Myeloproliferative disorder, Eosinophilia, Splenomegaly OMIM:607685
Adult Idiopathic Neutropenia
Monocytosis, Monocytopenia, Neutropenia, Lymphopenia ORPHA:2688
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Cryptorchidism, Microphallus, Primary amenorrhea, Absence of pubertal development, Hypogonadotrop... OMIM:614840
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Abnormal sperm head morphology, Abnormal sperm morphology, D... ORPHA:320391
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, Thrombocytosis, Leukocytosis, B lymphocytopenia, Neutrophilia OMIM:619281
Immunodeficiency 19
Lymphopenia OMIM:615617
Immunodeficiency 21
Myeloid leukemia, Monocytopenia, Abnormal natural killer cell morphology, Lymphopenia, Neutropeni... OMIM:614172
Myelolymphatic Insufficiency
Hyposegmentation of neutrophil nuclei, Leukopenia OMIM:310350
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Thrombocytopenia, Cyclic
Thrombocytopenia, Neutropenia, Cyclic neutropenia OMIM:188020
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:146110
Kennedy Disease
Erectile dysfunction, Testicular atrophy, Decreased fertility, Type II diabetes mellitus ORPHA:481
Kimura Disease
Abnormal salivary gland morphology, Eosinophilia ORPHA:482
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia OMIM:618310
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Leydig Cell Hypoplasia
Cryptorchidism, Male hypogonadism, Abnormal internal genitalia, Secondary amenorrhea, Micropenis,... ORPHA:755
Halothane Hepatitis
Eosinophilia OMIM:234350
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Lymphopenia, Decreased CD4:CD8 ratio,... OMIM:615897
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Lymphopenia, Neutropenia OMIM:614868
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Adrenal hypoplasia, Oligospermia, Decreased circulating cortisol lev... OMIM:300200
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male infertility, Micropenis, Elevated circulating luteinizing hormone leve... ORPHA:90797
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Candidiasis, Familial, 2
Hypereosinophilia OMIM:212050
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Lymphocytosis, T lymphocytopenia, Decreased proportion of CD8-positive T cells, Autoimmune thromb... ORPHA:169154
Autosomal Dominant Severe Congenital Neutropenia
Monocytosis, Lymphopenia, Leukemia, Neutropenia, Acute myeloid leukemia, Aplastic anemia, Acute l... ORPHA:486
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, A... ORPHA:432
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Autoimmune Lymphoproliferative Syndrome
Iron deficiency anemia, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... OMIM:601859
Cinca Syndrome
Leukocytosis, Papilledema, Anemia, Hepatosplenomegaly, Eosinophilia OMIM:607115
Reticular Dysgenesis
Congenital agranulocytosis, Lymphopenia, Leukopenia, Hypoplasia of the thymus OMIM:267500
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Delayed puberty, Female external genitalia in indivi... ORPHA:251510
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia OMIM:243700
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Decreased testicular size, Male hypogonadism, Polycystic ovaries ORPHA:393
Wells Syndrome
Eosinophilia ORPHA:901
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Azoospermia, De... OMIM:308700
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Increased se... ORPHA:8
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Omenn Syndrome
Severe B lymphocytopenia, Thrombocytopenia, Hypoplasia of the thymus, B lymphocytopenia, Anemia, ... OMIM:603554
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Erythroid hypoplasia, Monocytosis, Cryptorchidism, Lymphopenia, Neutropenia, Hypoplasia of the th... OMIM:612541
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Delayed puberty, Decreased testicular size, Decrease... ORPHA:280679
Lymphoid System Deterioration, Progressive
Abnormal T cell morphology, Lymphopenia OMIM:247630
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Eosinophilia, Retinal dystrophy ORPHA:353298
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Hypothyroidism, Neutropenia, Throm... OMIM:304790
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
48,Xyyy Syndrome
Male hypogonadism, Azoospermia, Primary gonadal insufficiency ORPHA:99329
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T cells, Lymphopenia, Abnormal ... ORPHA:331206
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism, Diabetes m... OMIM:235200
49,Xyyyy Syndrome
Male hypogonadism, Azoospermia, Increased circulating gonadotropin level, Abnormality of the test... ORPHA:99330
Specific Granule Deficiency 1
Absent neutrophil specific granules, Increased neutrophil mitochondria, Increased neutrophil ribo... OMIM:245480
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Abnormal circulating dehydroepiandrosterone concentration, Cryptorchidism, Female external genita... ORPHA:90791
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Immunodeficiency 49
Lymphopenia, Eosinophilia OMIM:617237
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Autoimmune Lymphoproliferative Syndrome, Type Iia
Iron deficiency anemia, Coombs-positive hemolytic anemia, Elevated proportion of CD4-negative, CD... OMIM:603909
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Eosinophilia ORPHA:3165
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Hemochromatosis, Type 3
Amenorrhea, Lymphopenia, Impotence, Neutropenia, Anemia, Hypogonadotropic hypogonadism OMIM:604250
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Cryptorchidism, Ambiguous genitalia, Urogenital sinus anomaly, Ambiguous genitalia, male, Bifid s... ORPHA:753
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Eosinophilia, Lymphopenia ORPHA:169160
Immunodeficiency 25
Autoimmune hemolytic anemia, T lymphocytopenia, Eosinophilia OMIM:610163
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Neutropenia, Thrombocytopenia, Leukopenia, Splenomegaly, Anemia OMIM:615285
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Hypogonadism, Male hypogona... OMIM:240950
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Omenn Syndrome
Leukocytosis, Thyroiditis, Abnormal lymphocyte morphology, Hypothyroidism, Anemia, Splenomegaly, ... ORPHA:39041
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased testicular size, Hypogonadism, Micropenis OMIM:616030
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Pancytopenia And Occlusive Vascular Disease
Thrombocytopenia, Leukopenia, Pancytopenia, Anemia OMIM:167850
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia OMIM:147060
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Infertility, Cryptorchidism, Ambiguous genitalia, Hypothyroidism, Abnormality of the urethra, Mal... ORPHA:752
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Cernunnos-Xlf Deficiency
T lymphocytopenia, Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia ORPHA:169079
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Hepatosplenomegaly, Eosinophilia OMIM:618999
Roifman Syndrome
Retinal dystrophy, Eosinophilia, Splenomegaly OMIM:616651
Neutropenia, Chronic Familial
Neutropenia OMIM:162700
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Hypergonadotropic hypogonadism, Type II diabetes mellit... ORPHA:10
Hyper-Ige Recurrent Infection Syndrome 4, Autosomal Recessive
Eosinophilia OMIM:618523
Immunodeficiency 68
Abscess, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Immunodeficiency 31C
Autoimmune hemolytic anemia, Hypothyroidism, Lymphopenia, Delayed puberty, Diabetes mellitus OMIM:614162
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hemolytic anemia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Splenome... ORPHA:444463
Glutathione Synthetase Deficiency
Hemolytic anemia, Neutropenia, Pigmentary retinopathy OMIM:266130
Wolfram Syndrome, Mitochondrial Form
Megaloblastic anemia, Neutropenia, Thrombocytopenia, Sideroblastic anemia, Optic atrophy, Diabete... OMIM:598500
Systemic Mastocytosis With Associated Hematologic Neoplasm
Myeloid leukemia, Leukocytosis, Chronic lymphatic leukemia, Normocytic anemia, Thrombocytopenia, ... ORPHA:98849
Combined Immunodeficiency Due To Zap70 Deficiency
Lymphocytosis, Decreased proportion of CD8-positive T cells, Autoimmune thrombocytopenia, Autoimm... ORPHA:911
Eosinophilic Gastroenteritis
Leukocytosis, Eosinophilia, Anemia ORPHA:2070
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
T lymphocytopenia, Monocytopenia, Lymphopenia, Abnormally low T cell receptor excision circle lev... OMIM:618986
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Pgm3-Cdg
T lymphocytopenia, Abnormal CD4:CD8 ratio, Cutaneous abscess, Hemolytic anemia, Decreased proport... ORPHA:443811
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Blind vagina, Elevated circulating luteinizing ... ORPHA:99429
Acute Erythroid Leukemia
Erythroid hypoplasia, Pancytopenia, Leukopenia, Anemia, Bone marrow hypocellularity ORPHA:318
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Decreased testicular size, Primary amenorrhea OMIM:614858
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Severe B lymphocytopenia, Aplasia of the thymus, Autoimmune thrombocytopenia, Autoimmune hemolyti... OMIM:102700
Dyskeratosis Congenita, Autosomal Recessive 2
Thrombocytopenia, Testicular atrophy, Bone marrow hypocellularity, Pancytopenia OMIM:613987
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, B lymphocytopenia, Splenomegaly OMIM:619164
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Infertility, Cryptorchidism, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Abnormal response to ACTH stimulation test, Abnormal circulating dehydroepiandrosterone concentra... ORPHA:90793
Hemochromatosis, Type 4
Impaired glucose tolerance, Impotence, Glucose intolerance, Anemia OMIM:606069
Bone Marrow Failure Syndrome 2
Thrombocytopenia, Anemia, Bone marrow hypocellularity, Leukopenia OMIM:615715
Late-Onset Isolated Acth Deficiency
Decreased circulating ACTH level, Adrenocorticotropin deficient adrenal insufficiency, Graves dis... ORPHA:199299
Hereditary Folate Malabsorption
Pancytopenia, Thrombocytopenia, Eosinophilia, Megaloblastic anemia ORPHA:90045
Familial Glucocorticoid Deficiency
Cryptorchidism, Decreased circulating dehydroepiandrosterone concentration, Impaired cortisol res... ORPHA:361
Transcobalamin Deficiency
Thrombocytopenia, Lymphopenia, Pancytopenia, Neutropenia ORPHA:859
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Lymphopenia, Increased proportion ... OMIM:617514
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Neutropenia, Thrombocytopenia, Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpu... OMIM:619041
Immunodeficiency 13
T lymphocytopenia, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Decreased CD... OMIM:615518
Hermansky-Pudlak Syndrome 9
Thrombocytopenia, Ocular albinism, Leukopenia, Hypopigmentation of the fundus OMIM:614171
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Functioning Gonadotropic Adenoma
Pituitary hypothyroidism, Delayed puberty, Decreased female libido, Pituitary gonadotropic cell a... ORPHA:91348
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Neutropenia, Anemia OMIM:614082
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hypergonadotropic hypogonadism, Hyperglycemia, Male hypogonadism, Glucose intolerance OMIM:307500
Incontinentia Pigmenti
Breast hypoplasia, Leukocytosis, Supernumerary nipple, Breast aplasia, Hypoplastic nipples, Retin... OMIM:308300
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Delayed puberty, Epispadias, Male infertili... ORPHA:1772
Retinal Venous Beading
Retinal infarction, Vitreous hemorrhage, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Kallmann Syndrome With Spastic Paraplegia
Cryptorchidism, Decreased circulating follicle stimulating hormone concentration, Decreased circu... OMIM:308750
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypothyroidism, Adrenal insufficiency, Hypogonadism, Abnormality of the hypothalamus... ORPHA:300298
48,Xxxy Syndrome
Infertility, Cryptorchidism, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96263
Autoimmune Lymphoproliferative Syndrome
Coombs-positive hemolytic anemia, Lymphocytosis, Elevated proportion of CD4-negative, CD8-negativ... ORPHA:3261
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Thyroiditis, Hypereosinophilia, Splenomegaly OMIM:617388
Aspergillosis
Vitritis, Neutropenia, Eosinophilia ORPHA:1163
Immunodeficiency 23
Hemolytic anemia, Lymphopenia, Neutropenia, Abscess, Eosinophilia OMIM:615816
Wolfram Syndrome 1
Pigmentary retinopathy, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Thrombocytope... OMIM:222300
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Patent ductus arteriosus, Hypoplasia of penis, Hypogonadotropic hypo... ORPHA:251066
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Lymphopenia, Eosinophilia OMIM:617425
Drug Rash With Eosinophilia And Systemic Symptoms
Lymphocytosis, Thyroiditis, Eosinophilia ORPHA:139402
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Thrombocytosis, Leukocytosis, Erythroid hyperplasia, Neutropenia, Hyposegment... ORPHA:75564
Cyclic Neutropenia
Decreased eosinophil count, Tooth abscess, Lymphopenia, Thrombocytopenia, Perianal abscess, Cycli... ORPHA:2686
Cystic Echinococcosis
Ovarian cyst, Peritoneal abscess, Abnormality of the testis size, Splenic cyst, Abscess, Eosinoph... ORPHA:400
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, Perianal abscess, Reduced natural killer cell count, B lymphocytopenia OMIM:618108
49,Xxxxy Syndrome
Infertility, Cryptorchidism, Azoospermia, Scrotal hypoplasia, Type II diabetes mellitus, Hypoplas... ORPHA:96264
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Hypothyroidism, Lymphopenia, Neutropenia, Anemia, Increased mean cor... OMIM:618849
Refractory Anemia
Erythroid hypoplasia, Neutropenia, Normocytic anemia, Thrombocytopenia, Normochromic anemia, Anem... ORPHA:98826
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia, Type II diabetes mellitus OMIM:210900
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Abnormality of the uterus,... ORPHA:2138
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Erythroid hypoplasia, Thrombocytosis, Abnormal erythrocyte morphology, Bone marrow hypocellularit... ORPHA:86841
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Neutropenia, Thrombocytopenia, HbH hemoglobin, Splenomegaly, Acute leukemia ORPHA:231401
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Ataxia-Telangiectasia
Abnormal testis morphology, Lymphopenia, Aplasia/Hypoplasia of the thymus, Polycystic ovaries, De... ORPHA:100
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Netherton Syndrome
Hypereosinophilia OMIM:256500
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Leukocytosis, Impaired oxidative burst, Abnormally low T cell receptor excision circle level, Imp... OMIM:608203
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Autoinflammatory Syndrome, Familial, Behcet-Like
Thrombocytopenia, Lymphopenia, Hemolytic anemia, Genital ulcers OMIM:616744
Whim Syndrome 1
Abnormality of female external genitalia, Abnormal morphology of female internal genitalia, Neutr... OMIM:193670
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility, Deficient excision of UV-induce... OMIM:227650
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Acute lymphoblastic leukemia, Neutropenia OMIM:610738
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow... ORPHA:79239
Myotonic Dystrophy 1
Hypogonadism, Testicular atrophy, Cholelithiasis OMIM:160900
Iga Pemphigus
Cutaneous abscess, Eosinophilia ORPHA:555905
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:289548
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Delayed puberty, Female external genitalia in individual with 46,XY karyotype, De... ORPHA:168558
Immunodeficiency 54
Adrenocorticotropic hormone excess, Reduced natural killer cell count, Adrenal insufficiency, Spl... OMIM:609981
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Delayed puberty, Abnormal spermatogenesis ORPHA:90646
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Male infertility, Congenital hypoparathyroidism ORPHA:2239
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Thrombocytopenia, Bone marrow hypocellularity, Abnormality of the optic nerve, Abno... ORPHA:3226
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hydrocele testis, Congenital thrombocytopenia, Neutropenia, Thrombocytopenia, Anemia OMIM:616738
Wiskott-Aldrich Syndrome
Iron deficiency anemia, Decreased mean platelet volume, Decreased proportion of CD8-positive T ce... OMIM:301000
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Nephrotic Syndrome, Type 14
Cryptorchidism, Hypothyroidism, Lymphopenia, Hypoglycemia, Adrenal insufficiency, Hypogonadism, M... OMIM:617575
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Type II d... ORPHA:91
Thrombocytopenia 5
Thrombocytopenia, Neutropenia, Anemia OMIM:616216
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Thrombocytosis, Megaloblastic anemia, Lymphopenia, Pancytopenia, Anemia of inadequate production,... OMIM:617780
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Reticulocytopenia, Leukopenia, Hypospadias, Macrocytic anemia OMIM:612528
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Neutropenia, B lymphocytopenia, Splenomega... OMIM:150550
H Syndrome
Azoospermia, Amenorrhea, Delayed puberty, Decreased testicular size, Hypogonadism, Diabetes melli... ORPHA:168569
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... OMIM:619313
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Reduced natural killer cell count, Thrombocytopenia, Anemia, Splenomegaly OMIM:616050
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibod... ORPHA:231154
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligomenorrhea, Amenorrhea, Enlarged pituitary gland, Oligospermia, Neoplasm ... ORPHA:91351
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Neutropenia, Reticulocytopenia OMIM:612527
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Idiopathic Aplastic Anemia
Neutropenia, Reticulocytopenia, Thrombocytopenia, Pancytopenia, Retinal hemorrhage, Anemia, Bone ... ORPHA:88
Lymphoproliferative Syndrome, X-Linked, 1
Lymphocytosis, Hemophagocytosis, Neutropenia, Pancytopenia, Thrombocytopenia, Aplastic anemia, Sp... OMIM:308240
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Lymphatic Filariasis
Hydrocele testis, Epididymitis, Urethral obstruction, Abnormality of the scrotum, Orchitis, Vagin... ORPHA:2035
Myotonic Dystrophy 2
Elevated circulating follicle stimulating hormone level, Hypogonadism, Diabetes mellitus, Oligosp... OMIM:602668
Diamond-Blackfan Anemia 8
Increased mean corpuscular volume, Neutropenia, Macrocytic anemia OMIM:612563
Fanconi Anemia, Complementation Group E
Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimer... OMIM:600901
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
T lymphocytopenia, Decreased proportion of memory B cells, Abnormal natural killer cell count, Pa... ORPHA:79124
Fanconi Anemia, Complementation Group V
Thrombocytopenia, Bone marrow hypocellularity, Neutropenia, Anemia OMIM:617243
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Decreased proportion of CD8-positive T cells, Lymphopenia, Decreased proportio... ORPHA:508533
Alveolar Echinococcosis
Cutaneous abscess, Pancreatic cysts, Abnormal spleen morphology, Abnormality of adrenal morpholog... ORPHA:284
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal testis morphology, Anemia, Neutrophilia, Brain abscess, Liver abscess ORPHA:54251
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Retinal hemorrhage, Retinal detachment, Supernumerary nipple, ... ORPHA:464
Igg4-Related Submandibular Gland Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormal salivary gland morphology, Enlargem... ORPHA:449432
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Elliptocytosis, Increased hemoglobin, Abnormal erythrocyte morphology, Neutropenia, Thrombocytope... OMIM:300835
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Igg4-Related Pachymeningitis
Abnormality of the optic nerve, Eosinophilia, Parotitis ORPHA:449427
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Amenorrhea, Erectile dysfunction, Hypothyroidism, Testicular atrophy, Decreased seru... ORPHA:465508
Thrombocytopenia-Absent Radius Syndrome
Leukocytosis, Pancreatic cysts, Thrombocytopenia, Anemia, Hepatosplenomegaly, Aplasia of the uter... OMIM:274000
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Congenital Disorder Of Glycosylation, Type Iic
Neutrophilia, Reduction of neutrophil motility OMIM:266265
Mirage Syndrome
Cryptorchidism, Microphallus, Hypergonadotropic hypogonadism, Lymphopenia, Shawl scrotum, Hypogly... OMIM:617053
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Defective DNA repair after ultraviolet radiation damage OMIM:278800
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of CD4-positive helper T cells... ORPHA:276
Noonan Syndrome 12
Thrombocytopenia, Lymphopenia, Decreased response to growth hormone stimuation test OMIM:618624
Coccidioidomycosis
Abnormal retinal morphology, Abnormal sperm morphology, Granuloma, Abnormality of the male genita... ORPHA:228123
Ataxia-Telangiectasia
T lymphocytopenia, Glucose intolerance, Decreased proportion of CD4-positive helper T cells, Lymp... OMIM:208900
Acute Monoblastic/Monocytic Leukemia
Lymphocytosis, Hypochromic anemia, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism... ORPHA:514
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Generalized Glucocorticoid Resistance Syndrome
Infertility, Ambiguous genitalia, Increased urinary cortisol level, Increased circulating cortiso... ORPHA:786
Idiopathic Hypereosinophilic Syndrome
Thrombocytosis, Leukocytosis, Thrombocytopenia, Anemia, Splenomegaly, Neutrophilia, Hepatosplenom... ORPHA:3260
Macrocephaly/Autism Syndrome
Lymphopenia, Splenomegaly OMIM:605309
Fanconi Anemia, Complementation Group C
Hypergonadotropic hypogonadism, Cryptorchidism, Deficient excision of UV-induced pyrimidine dimer... OMIM:227645
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Igg4-Related Ophthalmic Disease
Prostatitis, Enlarged lacrimal glands, Sialadenitis, Abnormality of the anterior pituitary, Thyro... ORPHA:449563
Acute Panmyelosis With Myelofibrosis
Lymphocytosis, Acute myelomonocytic leukemia, Pancytopenia, Acute myeloid leukemia, Splenomegaly,... ORPHA:86843
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Hypergonadotropic hypogonadism, Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Pre... OMIM:157640
Lead Poisoning
Abnormality of the menstrual cycle, Infertility, Reduced sperm motility, Oligospermia, Decreased ... ORPHA:330015
Immunodeficiency 36
Lymphopenia, Chronic lymphatic leukemia, Splenomegaly OMIM:616005
Mody
Abnormal oral glucose tolerance, Hyperinsulinemic hypoglycemia, Neonatal hypoglycemia, Glucose in... ORPHA:552
Scleroderma
Hypereosinophilia ORPHA:801
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Pancreatic hypoplasia, Typ... OMIM:602782
Ghosal Hematodiaphyseal Dysplasia
Thrombocytopenia, Leukopenia, Bone marrow hypocellularity, Refractory anemia OMIM:231095
Fanconi Anemia, Complementation Group D2
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227646
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume OMIM:617718
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
Hermansky-Pudlak Syndrome 2
Neutropenia, Ocular albinism, Thrombocytopenia, Reduced natural killer cell count, Absent platele... OMIM:608233
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Lymphopenia, Premature ovarian insufficiency ORPHA:391307
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Lymphopenia, Aplasia of the thymus, Hepatosplenomegaly OMIM:242700
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Increased circulating procalcitonin concentration, Leukopenia, Neutrophilia, Diabet... ORPHA:36238
X-Linked Lymphoproliferative Disease
Increased proportion of CD25+ mast cells, Lymphocytosis, T lymphocytopenia, Hemophagocytosis, Inc... ORPHA:2442
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Testicu... OMIM:305400
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Bloom Syndrome
Azoospermia, Oligospermia, Diabetes mellitus, Male infertility, Premature ovarian insufficiency ORPHA:125
Insulin-Resistance Syndrome Type B
Hyperinsulinemic hypoglycemia, Leukopenia, Type II diabetes mellitus, Insulin resistance, Polycys... ORPHA:2298
Aregenerative Anemia
Erythroid hypoplasia, Decreased proportion of CD4-positive helper T cells, Neutropenia, Reticuloc... ORPHA:101096
Immunodeficiency 67
Transient neutropenia, Liver abscess OMIM:607676
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
T lymphocytopenia, Lymphopenia, Absent natural killer cells, Impaired lymphocyte transformation w... OMIM:600802
Purine Nucleoside Phosphorylase Deficiency
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T ... ORPHA:760
Mccune-Albright Syndrome
Ovarian cyst, Abnormal endocrine physiology, Hyperplasia of the Leydig cells, Elevated circulatin... ORPHA:562
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormality of the hypotha... ORPHA:84
Woodhouse-Sakati Syndrome
Hyperinsulinemia, Micropenis, Hypothyroidism, Hypoplasia of the fallopian tube, Hypoplasia of the... ORPHA:3464
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
T lymphocytopenia, Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation w... ORPHA:35078
Relapsing Fever
Leukocytosis, Thrombocytopenia, Anemia, Leukopenia, Neutrophilia ORPHA:91547
Igg4-Related Kidney Disease
Prostatitis, Sialadenitis, Abnormality of the anterior pituitary, Thyroiditis, Urethritis, Eosino... ORPHA:449395
Schimke Immunoosseous Dysplasia
Lymphopenia, Elevated circulating thyroid-stimulating hormone concentration, Neutropenia, Thrombo... OMIM:242900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Hemolytic anemia, Lymphopenia, Impaired oxidative burst, Granuloma, Perianal abscess, Splenomegal... OMIM:618935
Icf Syndrome
Abnormality of neutrophils, Lymphopenia, Anemia ORPHA:2268
Cowden Syndrome 1
Hydrocele testis, Ovarian cyst, Goiter, Thyroiditis, Lymphopenia, Hypothyroidism, Ovarian carcino... OMIM:158350
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
Sarcoidosis
Parotitis, Enlarged lacrimal glands, Hemolytic anemia, Increased T cell count, Abnormal reproduct... ORPHA:797
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Increased proportion of CD4-positive T cells, Leukocytosis OMIM:617099
Adult-Onset Still Disease
Neutrophilia, Leukocytosis, Bone marrow hypocellularity, Splenomegaly ORPHA:829
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Lymphopenia, Neutropenia, Reticulocytopenia, Thrombocytopenia, B lymphocytopenia, Anemia, Leukope... ORPHA:508542
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Congenital hypoplastic a... OMIM:250250
Wiskott-Aldrich Syndrome
Abnormality of the menstrual cycle, Hemolytic anemia, Chronic leukemia, Microcytic anemia, Lympho... ORPHA:906
Autoimmune Lymphoproliferative Syndrome, Type V
Autoimmune hemolytic anemia, Lymphopenia, Autoimmune thrombocytopenia, Splenomegaly OMIM:616100
Wolcott-Rallison Syndrome
Iron deficiency anemia, Lymphocytosis, Hypothyroidism, Central hypothyroidism, Neutropenia, Neona... ORPHA:1667
Purine Nucleoside Phosphorylase Deficiency
Pure red cell aplasia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Lymphopenia, Neu... OMIM:613179
Short Stature, Microcephaly, And Endocrine Dysfunction
Cryptorchidism, Insulin resistance, Hypothyroidism, Lymphopenia, Anemia, Diabetes mellitus, Micro... OMIM:616541
Ciliary Dyskinesia, Primary, 1
Male infertility, Abnormal respiratory motile cilium morphology OMIM:244400
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Thrombocytosis, Leukocytosis, Lymphopenia, Hashimoto thyroiditis, Pancytopenia, Splenomegaly, Typ... OMIM:615688
Combined Immunodeficiency With Faciooculoskeletal Anomalies
Decreased proportion of CD4-positive helper T cells, Abnormal T cell subset distribution, Reduced... ORPHA:221139
Hyper-Igd Syndrome
Leukocytosis, Splenomegaly, Neutrophilia, Hepatosplenomegaly, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Lymphopenia, Decreased proportion of naive CD8 T cells,... ORPHA:1830
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Sting-Associated Vasculopathy, Infantile-Onset
Thrombocytosis, Anemia, Leukopenia, Lymphopenia OMIM:615934
Secondary Intestinal Lymphangiectasia
Lymphopenia ORPHA:90363
Avian Influenza
Thrombocytopenia, Lymphopenia, Spontaneous abortion, Leukopenia ORPHA:454836
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Thyroiditis, Lymphopenia, Neutropenia i... ORPHA:391487
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Dyskeratosis Congenita, Autosomal Dominant 1
Lymphopenia, Thrombocytopenia, Aplastic anemia, Anemia, Bone marrow hypocellularity OMIM:127550
Fusariosis
Lung abscess, Lymphopenia, Abnormal retinal morphology, Granuloma, Neutropenia, Abnormality of th... ORPHA:228119
Oculocerebrorenal Syndrome Of Lowe
Cryptorchidism, Azoospermia, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteron... ORPHA:534
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Cholelithiasis ORPHA:2072
Chédiak-Higashi Syndrome
Increased proportion of CD25+ mast cells, Hemophagocytosis, Abnormality of retinal pigmentation, ... ORPHA:167
Sweet Syndrome
Leukocytosis, Chronic lymphatic leukemia, Acute myeloid leukemia, Anemia, Sterile abscess, Neutro... ORPHA:3243
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Lymphopenia, Anemia, Splenomegaly OMIM:617591
Pediatric Systemic Lupus Erythematosus
Thrombocytopenia, Microangiopathic hemolytic anemia, Leukopenia, Lymphopenia ORPHA:93552
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Whim Syndrome
Lymphopenia, Neutropenia, Cervix cancer, Abnormality of neutrophil morphology, Parotitis ORPHA:51636
Familial Mediterranean Fever
Neutrophilia, Splenomegaly, Orchitis, Leukocytosis OMIM:249100
Spondyloenchondrodysplasia With Immune Dysregulation
T lymphocytopenia, Autoimmune thrombocytopenia, Hypothyroidism, Lymphopenia, Neutropenia OMIM:607944
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Popov-Chang syndrome
Lymphopenia OMIM:618428
Primary Intestinal Lymphangiectasia
Iron deficiency anemia, Lymphopenia, Vaginal lymphocele ORPHA:90362
Legionnaires Disease
Lymphopenia, Bone marrow hypocellularity, Splenomegaly ORPHA:549
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Cystinosis, Nephropathic
Male hypogonadism, Pigmentary retinopathy, Retinal pigment epithelial mottling, Glycosuria, Delay... OMIM:219800
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Anemia ORPHA:935
Steinert Myotonic Dystrophy
Male hypogonadism, Hyperinsulinemia, Hypergonadotropic hypogonadism, Endometrial carcinoma, Impot... ORPHA:273
Wiskott-Aldrich Syndrome, Autosomal Dominant
Iron deficiency anemia, Decreased mean platelet volume, Hemolytic anemia, Lymphopenia, Thrombocyt... OMIM:600903
Common Variable Immunodeficiency
Lymphopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly ORPHA:1572
Noonan Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Hypospadias, Hypogonadism, Male infertility OMIM:163950
Leukocyte Adhesion Deficiency Type Ii
Neutrophilia, Leukocytosis, Anemia, Microcytic anemia ORPHA:99843
Primary Sjögren Syndrome
Vaginal dryness, Thyroiditis, Decreased proportion of CD4-positive helper T cells, Lymphopenia, O... ORPHA:289390
Syndromic Diarrhea
Thrombocytosis, Hypothyroidism, Lymphopenia, Increased mean platelet volume, Hypoplasia of the th... ORPHA:84064
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Kikuchi-Fujimoto Disease
Lymphocytosis, Neutropenia, Thrombocytopenia, Enlargement of parotid gland, Splenomegaly, Anemia,... ORPHA:50918
Japanese Encephalitis
Neutrophilia, Inappropriate antidiuretic hormone secretion ORPHA:79139
Cystic Fibrosis
Male infertility OMIM:219700
Charge Syndrome
Cryptorchidism, Hypoplastic male external genitalia, Retinal coloboma, Hypothyroidism, Lymphopeni... OMIM:214800
Alström Syndrome
Hyoplasia of the Leydig cells, Puberty and gonadal disorders, Hyperinsulinemia, Oligospermia, Irr... ORPHA:64
Hennekam Syndrome
Lymphopenia, Splenomegaly ORPHA:2136
Amyotrophic Lateral Sclerosis 4, Juvenile
OMIM:602433
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
ORPHA:64753
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
OMIM:606002
Amyotrophic Lateral Sclerosis Type 4
ORPHA:357043

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 Setx

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 Setx.

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

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MGI Allele Allele Type Produced
Setxtm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (post-Cre) Mice
Setxtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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