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Gene: Setx MGI:2443480

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Gene Summary

Name:
senataxin
Synonyms:
Als4,  A930037J23Rik

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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
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 1.85×10-05
increased eosinophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
male infertility Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased lymphocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 6.23×10-06
small testis Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
increased NK cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 2.36×10-05
decreased leukocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 9.29×10-05
decreased total retina thickness Setxtm1b(EUCOMM)Wtsi HOM Early adult 9.68×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

16 Images

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FCS thumbnail FCS
Immunophenotyping

Panel A FCS file(s)

11 Images

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FCS thumbnail FCS
Immunophenotyping

Panel B FCS file(s)

11 Images

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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
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor of dorsal colum... OMIM:602433
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Chorea, Tremor, Impaired distal vi... OMIM:606002
Amyotrophic Lateral Sclerosis Type 4
Somatic sensory dysfunction ORPHA:357043
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Cerebellar vermis atrophy, Head tremor, Dystonia, Ataxia, Postural tremor, Choreoathetosis, Somat... ORPHA:64753

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
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
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Microcephalic ... OMIM:301101
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... DECIPHER:29
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... OMIM:202700
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Deleted in azoospermia
Azoospermia OMIM:400003
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Monocytosis, Neutropenia OMIM:613107
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Male infertility, Male hypogonadism, Gonadal dysgenesis, Abnormality o... ORPHA:261529
Spermatogenic Failure 17
Male infertility OMIM:617214
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Anorectal abscess, Anemia, Thrombocytopenia, Monocytosis, Neutropenia OMIM:620534
Eosinophilia, Familial
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis OMIM:131400
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Immunodeficiency 88
Eosinophilia OMIM:619630
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Acute Myelomonocytic Leukemia
Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis ORPHA:517
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
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Monocytosis, Bone marrow hypocellularity, Leukopenia, Refractory anemia OMIM:616871
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocytopenia, Monocyt... OMIM:614470
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Monomelic Amyotrophy
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction ORPHA:65684
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cells, Abnormal proport... OMIM:212050
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Truncal ataxia, Gait ataxia,... ORPHA:95434
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Dystonia OMIM:300857
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Male infertility, Oligozoospermia, Absent vas deferens ORPHA:48
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
Generalized Eruptive Histiocytosis
Hypereosinophilia, Histiocytosis, Leukemia ORPHA:157991
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Hand tremor OMIM:253550
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Adult Idiopathic Neutropenia
Monocytopenia, Monocytosis, Neutropenia, Lymphopenia ORPHA:2688
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Immunodeficiency 14B, Autosomal Recessive
Monocytosis, B lymphocytopenia, Leukocytosis, Neutrophilia, Thrombocytosis OMIM:619281
Immunodeficiency 53
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin OMIM:617585
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Absence of pubertal development, Primary amenorrhea, Cry... OMIM:614840
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor of dorsal colum... OMIM:602433
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Diamond-Blackfan Anemia 18
Steroid-responsive anemia, Erythroid hypoplasia, Neutropenia OMIM:618310
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Immunodeficiency 21
Aplastic anemia, Cervical intraepithelial neoplasia, Anemia, Neutropenia, B lymphocytopenia, Lymp... OMIM:614172
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Combined Immunodeficiency, X-Linked
Decreased proportion of CD8-positive T cells, Abnormal natural killer cell count, Abnormal T cell... OMIM:312863
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Immunodeficiency 32B
Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, Impaired oxida... OMIM:226990
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Hemophagocytosis, Decr... OMIM:619802
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Autosomal Dominant Severe Congenital Neutropenia
Aplastic anemia, Acute myeloid leukemia, Acute lymphoblastic leukemia, Lymphopenia, Eosinophilia,... ORPHA:486
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Abnormal lower motor neuron morphology... OMIM:105550
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Decreased proportion of CD8-positive T cells, Decreased proportion of CD3-positive T cells, Lymph... ORPHA:169154
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Immunodeficiency 52
Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B cell count, Lymph... OMIM:617514
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Breast hypoplasia, Hypoplasia of the uterus, Absence of... ORPHA:432
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Hand tremor, Distal sensory impairment, Axonal degeneration OMIM:604484
Reticular Dysgenesis
Congenital agranulocytosis, Leukopenia, Hypoplasia of the thymus, Lymphopenia OMIM:267500
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Spinal Muscular Atrophy, Type Iii
Degeneration of anterior horn cells, Hand tremor OMIM:253400
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:601859
Agammaglobulinemia 7, Autosomal Recessive
Abnormal T cell morphology, Reduced natural killer cell count, Neutropenia OMIM:615214
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Boucher-Neuhauser Syndrome
Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy, Gait ataxia,... OMIM:215470
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Abnormally low T cell receptor excision circle level, Eosinophilia OMIM:618092
Cinca Syndrome
Anemia, Leukocytosis, Papilledema, Hepatosplenomegaly, Eosinophilia OMIM:607115
Wells Syndrome
Eosinophilia ORPHA:901
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Abnormal lymphocyte count, Abnormal B cell count, L... OMIM:615615
Cyclic Neutropenia
Cyclic neutropenia OMIM:162800
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Anemia, Decreased FOXP3-expressing T cell count, Hypothyroidism, Type I diabetes mellitus, Thromb... OMIM:304790
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Ambiguous genitalia, Polycystic ovaries, Male hypogonadism ORPHA:393
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Eosinophil Peroxidase Deficiency
Eosinophil nuclear hypersegmentation OMIM:261500
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Autoimmune hemolytic anemia, Delayed puberty, Neutropenia in presence of anti-neutropil antibodie... OMIM:615952
Amyotrophic Lateral Sclerosis 2, Juvenile
Generalized dystonia, Retrocollis, Abnormal upper motor neuron morphology, Arm dystonia, Head tit... OMIM:205100
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Tremor, Facial palsy OMIM:159950
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, B lymphocytopenia, Incr... OMIM:619924
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis, Ataxia OMIM:615911
Immunodeficiency 7
Autoimmune hemolytic anemia, Hypereosinophilia, Splenomegaly, Neutropenia OMIM:615387
Roifman Syndrome
Eosinophilia, Hepatosplenomegaly, Hypogonadotropic hypogonadism, Retinal dystrophy ORPHA:353298
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, Decreased proporti... OMIM:617237
Pontocerebellar Hypoplasia, Type 1A
Limb ataxia, Cerebral cortical atrophy, Ataxia, Degeneration of anterior horn cells, Hand tremor OMIM:607596
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Iron deficiency anemia, Neutropenia in presence of anti-neutropil an... OMIM:603909
Immunodeficiency 8 With Lymphoproliferation
Lymphopenia OMIM:615401
Amyotrophic Lateral Sclerosis 8
Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Immunodeficiency 112
Decreased proportion of gamma-delta T cells, Decreased proportion of class-switched memory B cell... OMIM:620449
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Decreased proportion of CD3-posi... ORPHA:331206
Specific Granule Deficiency 1
Abnormal neutrophil count, Hyposegmentation of neutrophil nuclei, Impaired neutrophil bactericida... OMIM:245480
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Distal sensory impairment, Abnormal upper motor neuron morph... OMIM:606070
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Immunodeficiency 91 And Hyperinflammation
Hemophagocytosis, Neutrophilia, Thrombocytopenia, Hepatosplenomegaly, Monocytosis OMIM:619644
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Immunodeficiency 25
Autoimmune hemolytic anemia, Eosinophilia, T lymphocytopenia OMIM:610163
Hemochromatosis, Type 1
Azoospermia, Impotence, Diabetes mellitus, Amenorrhea, Hypogonadotropic hypogonadism, Testicular ... OMIM:235200
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Eosinophilia OMIM:618523
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased proportion of CD3-positive T cells, Eosinophilia, Hepatosplenomegaly, Lymphopenia ORPHA:169160
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Dystonia, Paucity of a... OMIM:611890
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections
Eosinophilia OMIM:620532
Omenn Syndrome
Anemia, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis, Hypothyroidism, Splenomegaly, ... ORPHA:39041
Juvenile Amyotrophic Lateral Sclerosis
Oromandibular dystonia, Axial dystonia, Retrocollis, Chorea, Head titubation, Dystonia, Ataxia, O... ORPHA:300605
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Plasmacytosis, Lymphopenia OMIM:247800
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Spinal Muscular Atrophy, Type Iv
Degeneration of anterior horn cells, Hand tremor OMIM:271150
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Autoimmune hemolytic anemia, Abnormal natural killer cell count, Abnormal T cell count, Hypothyro... OMIM:620430
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Splenomegaly, Lymphopenia, Abnormally l... OMIM:602450
Hemochromatosis, Type 3
Anemia, Impotence, Lymphopenia, Amenorrhea, Hypogonadotropic hypogonadism, Neutropenia OMIM:604250
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Ambiguous genitalia, male, Hypoplasia of penis, Abnormality of the endocrine system, Bifid scrotu... ORPHA:753
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... OMIM:301830
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Autoinflammation, Immune Dysregulation, And Eosinophilia
Hypothyroidism, Eosinophilia, Hepatosplenomegaly OMIM:618999
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Degeneration of anterior horn cells, Ataxia, Cerebral cortical atrophy ORPHA:2254
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Roifman Syndrome
Eosinophilia, Splenomegaly, Retinal dystrophy OMIM:616651
Peeling Skin Syndrome 1
Eosinophilia OMIM:270300
48,Xxyy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Eosinophilic Gastroenteritis
Eosinophilia, Anemia, Leukocytosis ORPHA:2070
Omenn Syndrome
Anemia, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymphocytopenia, Thrombocytopenia, ... OMIM:603554
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Distal sensory impairment, Orthostatic hypotension, Pares... OMIM:263570
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Decreased compound muscle acti... OMIM:606353
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Brain atrophy, Amyotrophic lateral sclerosis, Cranial nerve com... ORPHA:52430
Pgm3-Cdg
Decreased proportion of CD3-positive T cells, Neutropenia in presence of anti-neutropil antibodie... ORPHA:443811
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, B lymphocytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Lymphopenia, ... OMIM:618986
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Immunodeficiency 102
Anemia, B lymphocytopenia, Neutropenia in presence of anti-neutropil antibodies, Decreased propor... OMIM:301082
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614858
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... ORPHA:98849
Combined Immunodeficiency Due To Zap70 Deficiency
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Lymphocytosis, Hepatos... ORPHA:911
Glutathione Synthetase Deficiency
Pigmentary retinopathy, Hemolytic anemia, Neutropenia OMIM:266130
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Sideroblastic anemia, Thrombocytopenia, ... OMIM:598500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Splenomegaly, Lymphopenia, Autoimmune thrombocytopenia, Hemolytic an... ORPHA:444463
Immunodeficiency 67
Liver abscess, Abnormal natural killer cell count, Abnormal T cell count, Transient neutropenia, ... OMIM:607676
Machado-Joseph Disease Type 3
Progressive cerebellar ataxia, Degeneration of the striatum, Cerebellar atrophy, Dystonia, Progre... ORPHA:276244
Immunodeficiency 68
B lymphocytopenia, Abscess, Abnormal natural killer cell count, T lymphocytopenia OMIM:612260
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Lymphoproliferative Syndrome 3
Reduced natural killer cell count, Hepatosplenomegaly OMIM:618261
Progressive Non-Fluent Aphasia
Frontotemporal cerebral atrophy, Senile plaques, Abnormal lower motor neuron morphology, Temporal... ORPHA:100070
Trimethylaminuria
Anemia, Splenomegaly, Neutropenia OMIM:602079
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Progressive cerebellar ataxia, Abnormal upper motor neuron morphology, Abno... ORPHA:275872
Cernunnos-Xlf Deficiency
Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia ORPHA:169079
Immunodeficiency 76
B lymphocytopenia, Lymphopenia, Splenomegaly, T lymphocytopenia OMIM:619164
Immunodeficiency 95
Lymphopenia OMIM:619773
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Hereditary Folate Malabsorption
Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia ORPHA:90045
N Syndrome
Abnormality of chromosome stability, Cryptorchidism, Hypospadias OMIM:310465
Late-Onset Isolated Acth Deficiency
Normocytic anemia, Premature ovarian insufficiency, Hypoparathyroidism, Macrocytic anemia, Decrea... ORPHA:199299
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Breast hypoplasia, Absence of secondary sex characteristics, Small pituitary gla... ORPHA:2232
Transcobalamin Deficiency
Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia ORPHA:859
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Absent circulating B cells OMIM:619707
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Perianal abscess, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Cryptorchidism, Leukope... OMIM:612541
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary hematopoiesis, Neutropenia OMIM:615285
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Cutaneous abscess, Sterile abscess OMIM:618282
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Acute Generalized Exanthematous Pustulosis
Eosinophilia, Neutrophilia, Leukocytosis, Neutropenia ORPHA:293173
Aspergillosis
Eosinophilia, Vitritis, Neutropenia ORPHA:1163
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo... OMIM:619041
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukopenia, Leukemia OMIM:620400
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Leydig Cell Hypoplasia
Absence of secondary sex characteristics, Testicular gonadoblastoma, Aplasia of the uterus, Femal... ORPHA:755
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor ORPHA:2590
Bone Marrow Failure Syndrome 2
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia OMIM:615715
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia, Male hypogonadism, Hypergonadotropic hypogonadism OMIM:307500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
Amyotrophic Lateral Sclerosis
Neurodegeneration, Amyotrophic lateral sclerosis, Motor neuron atrophy ORPHA:803
Immunodeficiency 13
B lymphocytopenia, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lympho... OMIM:615518
Ziegler-Huang Syndrome
Macrocytic anemia, Anterior pituitary hypoplasia, Persistence of hemoglobin F, Bone marrow hypoce... OMIM:620501
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell co... OMIM:243700
Immunodeficiency 23
Lymphopenia, Eosinophilia, Abscess, Hemolytic anemia, Neutropenia OMIM:615816
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Leukocytosis, Neutrophilia, Splenomegaly, Autoimmune thrombocytopeni... OMIM:620565
Acute Erythroid Leukemia
Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Leukopenia ORPHA:318
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphocytosis, Eosinophilia, Thyroiditis ORPHA:139402
Vocal Cord And Pharyngeal Distal Myopathy
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Distal sensory impairment ORPHA:600
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Systemic Lupus Erythematosus 17
Optic neuritis, Thrombocytopenia, Leukopenia, Lymphopenia, Autoimmune thrombocytopenia OMIM:301080
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, B lymphocytopenia, Adren... OMIM:102700
48,Xxxy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96263
Agammaglobulinemia 3, Autosomal Recessive
Abnormal T cell morphology, Neutropenia, Absent circulating B cells OMIM:613501
Anemia, Sideroblastic, 5
Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia OMIM:619523
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Lymphopenia, D... OMIM:619846
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Hypothyroidism, Bone marr... OMIM:618849
Autoinflammation With Arthritis And Dyskeratosis
Autoimmune hemolytic anemia, Hypereosinophilia, Thyroiditis, Splenomegaly OMIM:617388
Retinitis Pigmentosa And Erythrocytic Microcytosis
Bone spicule pigmentation of the retina, Anemia, Retinal pigment epithelial atrophy, Hypochromia,... OMIM:616959
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Prostate cancer, Acute lymphoblas... ORPHA:158057
Cystic Echinococcosis
Splenic cyst, Peritoneal abscess, Abnormality of the testis size, Ovarian cyst, Eosinophilia, Abs... ORPHA:400
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Premature ovarian insufficiency, Thyroid carcinoma, Lymphocytosis, N... ORPHA:3261
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemia of inadequat... ORPHA:75564
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Breast aplasia, Retinal detachment, Retinal vascular proliferat... OMIM:308300
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Reduced natural killer cell count, B lymphocytopenia, T lymphocytopenia OMIM:618108
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Myelitis, Dystonia, Amyotrophic lateral sclerosis ORPHA:1320
49,Xxxxy Syndrome
Hypoplasia of penis, Azoospermia, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96264
Cyclic Neutropenia
Perianal abscess, Lymphopenia, Tooth abscess, Thrombocytopenia, Decreased eosinophil count, Cycli... ORPHA:2686
Infantile-Onset X-Linked Spinal Muscular Atrophy
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology ORPHA:1145
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
8P11.2 Deletion Syndrome
Hypoplasia of penis, Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, P... ORPHA:251066
Fanconi Anemia, Complementation Group A
Male infertility, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227650
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Refractory Anemia
Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Anemia of inadeq... ORPHA:98826
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy ORPHA:35689
Wolfram Syndrome 1
Optic atrophy, Diabetes insipidus, Megaloblastic anemia, Hypothyroidism, Sideroblastic anemia, Th... OMIM:222300
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Resting tremor, Corpus callosum atrophy, Gait ataxia, Imp... OMIM:601162
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Ataxia-Telangiectasia
Delayed puberty, Abnormal testis morphology, Type II diabetes mellitus, Lymphopenia, Aplasia/Hypo... ORPHA:100
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Macrocytic anemia, Rectal abscess, Reduction of neutrophil motility, Leukocytosis, Neutrophilia, ... OMIM:608203
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Axonal degeneration OMIM:604320
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Immunodeficiency 44
Lymphopenia OMIM:616636
46,Xx Ovotesticular Difference Of Sex Development
Abnormal male internal genitalia morphology, Hypospadias, Hypoplasia of penis, Abnormal scrotal r... ORPHA:2138
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Lymphopenia, Decreased pr... OMIM:619510
Netherton Syndrome
Hypereosinophilia OMIM:256500
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Cerebral atrophy, Caudate atrophy OMIM:221770
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut... OMIM:616738
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, B lymphocytopenia, Hypoplasia of the ... OMIM:619313
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia OMIM:616744
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Bloom Syndrome
Azoospermia, Abnormality of chromosome stability, Chromosome breakage, Type II diabetes mellitus,... OMIM:210900
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Anemia, Thrombocytopenia, Lymphopenia, Type I diabetes mellitus, Cryptorchidism OMIM:620365
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Macrocytic anemia, Pancytopenia, Hypersegmentation of neutrophil nuclei, Megaloblastic anemia, An... OMIM:617780
Amegakaryocytic Thrombocytopenia, Congenital, 2
Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia OMIM:620481
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Thrombocytopenia, Leukopenia, Ocular albinism OMIM:614171
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Immunodeficiency 54
Reduced natural killer cell count, Splenomegaly, Adrenocorticotropic hormone excess, Adrenal insu... OMIM:609981
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Thrombocytopenia 5
Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Neut... OMIM:616216
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Oromandibular dystonia, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Generalized ... OMIM:614298
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Abnormal neutrophil count, Myeloproliferative disorder, Leukocytosis, Abnormal op... ORPHA:3226
Dyskeratosis Congenita, Autosomal Recessive 2
Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy, Pancytopenia OMIM:613987
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Fanconi Anemia, Complementation Group E
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:600901
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hemophagocytosis, Pancytopenia, Lymphocytosis, Abnormal T cell count, Thrombocyt... OMIM:308240
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Neutropenia, B lymphocytopenia, Intermittent thrombocytopenia, Splenomegaly, Abscess, Abnormal CD... OMIM:150550
Lymphatic Filariasis
Abnormal scrotum morphology, Orchitis, Epididymitis, Vaginal hydrocele, Hypereosinophilia, Hydroc... ORPHA:2035
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hemophagocytosis, B lymphocytopenia, Bone marrow hypocellularity, Ag... OMIM:301078
Disabling Pansclerotic Morphea Of Childhood
Neutropenia, Lymphopenia OMIM:620443
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eosinophilia ORPHA:2314
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Macrophage Activation Syndrome
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Thrombocytopenia, Splenomegaly, Neu... ORPHA:158061
Autoinflammation With Infantile Enterocolitis
Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Reduced natural killer cell count OMIM:616050
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Neutropenia, Cutaneous abscess, Lymphopenia OMIM:619752
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... ORPHA:168569
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
B lymphocytopenia, Lymphopenia, T lymphocytopenia ORPHA:277
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Decrease... OMIM:301000
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Incontinentia Pigmenti
Abnormal chorioretinal morphology, Retinal detachment, Retinal vascular proliferation, Retinal he... ORPHA:464
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Immunodeficiency 9
Hypoplasia of the thymus, Abnormal natural killer cell count, Lymphopenia OMIM:612782
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Diamond-Blackfan Anemia 4
Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia, Neutropenia OMIM:612527
Idiopathic Aplastic Anemia
Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo... ORPHA:88
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Diamond-Blackfan Anemia 5
Erythroid hypoplasia, Macrocytic anemia, Hypospadias, Reticulocytopenia, Leukopenia OMIM:612528
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Thrombocytopenia, Lymphopenia OMIM:618624
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal salivary gland morphology, Prostatitis, Abnormal pancreas morp... ORPHA:449432
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Alveolar Echinococcosis
Abnormal adrenal morphology, Liver abscess, Anemia, Abnormal spleen morphology, Eosinophilia, Cut... ORPHA:284
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Decreased proportion of CD8-positive T cells, T lymphocytopenia, Decreased proportion of CD4-posi... ORPHA:508533
Cushing Disease
Increased circulating ACTH level, Optic nerve compression, Decreased eosinophil count, Secondary ... ORPHA:96253
Reni Syndrome
Hypothyroidism, Hypogonadism, Lymphopenia, Hypoglycemia, Cryptorchidism, Micropenis, Adrenal insu... OMIM:617575
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Mirage Syndrome
Anemia, Hypospadias, Adrenal hypoplasia, Hypergonadotropic hypogonadism, Decreased testicular siz... OMIM:617053
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Leukopenia, Splenomegaly, Lymphopenia OMIM:620210
Fanconi Anemia, Complementation Group C
Chromosomal breakage induced by crosslinking agents, Deficient excision of UV-induced pyrimidine ... OMIM:227645
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Anemia, Abnormal natural killer cell count, Pancytopenia, Inappropriate antidiuretic hormone secr... ORPHA:79124
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Lymphopenia, P... OMIM:619767
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Immunodeficiency 43
Lung abscess, B lymphocytopenia, Reduced natural killer cell count OMIM:241600
Hemophagocytic Syndrome Associated With An Infection
Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Thrombocytopenia, Spl... ORPHA:158048
Symptomatic Form Of Hfe-Related Hemochromatosis
Erectile dysfunction, Infertility, Decreased libido, Testicular atrophy, Hypothyroidism, Amenorrh... ORPHA:465508
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Igg4-Related Pachymeningitis
Eosinophilia, Parotitis, Abnormal optic nerve morphology ORPHA:449427
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Liver abscess, Anemia, Abnormal testis morphology, Neutrophilia, Brain abscess ORPHA:54251
Coccidioidomycosis
Abnormality of the female genitalia, Abnormality of the endocrine system, Granuloma, Abnormality ... ORPHA:228123
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Pancreatic hypoplasia, Retinopathy, Glycosuria, Abnormal ... ORPHA:552
Acute Monoblastic/Monocytic Leukemia
Anemia, Lymphocytosis, Acute monocytic leukemia, Leukocytosis, Central hypothyroidism, Hypochromi... ORPHA:514
Idiopathic Hypereosinophilic Syndrome
Anemia, Myeloproliferative disorder, Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly... ORPHA:3260
Fanconi Anemia, Complementation Group V
Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia OMIM:617243
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Decreased proportion of CD3-positive T cells, Decreased proportion of naive T cells, Decreased pr... ORPHA:276
Immunodeficiency 36 With Lymphoproliferation
Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr... OMIM:616005
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Immunodeficiency 26 With Or Without Neurologic Abnormalities
B lymphocytopenia, Micropenis, Abnormal natural killer cell morphology, T lymphocytopenia OMIM:615966
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Increased circulating procalcitonin concentration, Neutrophilia, Leukopenia, Diabet... ORPHA:36238
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Igg4-Related Ophthalmic Disease
Enlarged lacrimal glands, Prostatitis, Abnormality of the anterior pituitary, Sialadenitis, Thyro... ORPHA:449563
Fanconi Anemia, Complementation Group D2
Annular pancreas, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hy... OMIM:227646
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage, Premature ovarian insufficiency OMIM:610965
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, T lymphocytopenia, Hepatosplenomegaly, Lymphopenia, Abnormally low T cell ... OMIM:242700
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Dyskeratosis Congenita, Autosomal Recessive 8
B lymphocytopenia, Reduced natural killer cell count, Bone marrow hypocellularity, Pancytopenia OMIM:620133
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Poikilocytosis, Bone marrow hypocellularity, Elliptocytosis, Anisocytosis, Thr... OMIM:300835
Immunodeficiency 114, Folate-Responsive
Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia OMIM:620603
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Azoospermia, Pancreatic hypoplasia, Hyperg... OMIM:602782
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage, Gonadal hypoplasia, Bilateral cryptorchi... OMIM:278800
Thrombocytopenia-Absent Radius Syndrome
Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ... OMIM:274000
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Lymphopenia ORPHA:391307
Immunodeficiency 92
Decreased proportion of class-switched memory B cells, Lymphocytosis, B lymphocytopenia, Leukocyt... OMIM:619652
Relapsing Fever
Anemia, Leukocytosis, Neutrophilia, Thrombocytopenia, Leukopenia ORPHA:91547
Japanese Encephalitis
Pill-rolling tremor, Hyperintensity of MRI T2 signal of the spinal cord, Tremor, Facial palsy, Pa... ORPHA:79139
Immunodeficiency 55
Absent natural killer cells, Neutropenia, Lymphopenia OMIM:617827
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Sneddon Syndrome
Lymphopenia OMIM:182410
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Reduced natural killer cell count, T lymphocytopenia OMIM:242860
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus arteriosus, Decreased fert... ORPHA:84
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Immunodeficiency 110 With Lymphoproliferation
Autoimmune hemolytic anemia, Neutropenia, Lymphopenia OMIM:614868
Onychotrichodysplasia And Neutropenia
Lymphocytosis, Chronic neutropenia, Neutropenia OMIM:258360
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia OMIM:301110
Insulin-Resistance Syndrome Type B
Leukopenia, Fasting hyperinsulinemia, Postprandial hyperglycemia, Hyperinsulinemia, Increased ser... ORPHA:2298
Ataxia-Telangiectasia
Delayed puberty, Abnormal spermatogenesis, Hypoplasia of the thymus, T lymphocytopenia, Female hy... OMIM:208900
Autoinflammatory Disease, Systemic, X-Linked
B lymphocytopenia, Optic neuritis, Chorioretinitis, Hepatosplenomegaly, Neutropenia OMIM:301081
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Ocular albinism, Hepatosplenomegaly, Splenomegaly, Enlarged plate... OMIM:608233
Cryptogenic Organizing Pneumonia
Neutrophilia, Leukocytosis ORPHA:1302
Cushing Syndrome Due To Ectopic Acth Secretion
Pheochromocytoma, Impaired glucose tolerance, Adrenal hyperplasia, Pulmonary carcinoid tumor, Lym... ORPHA:99889
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Lymphopenia, Impaired lymphocyte transformation with phytohemaggluti... OMIM:600802
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Sarcoidosis
Enlarged lacrimal glands, Abnormality of the adrenal glands, Anemia, Diabetes insipidus, Parotiti... ORPHA:797
Psoriasis 14, Pustular
Neutrophilia, Leukocytosis OMIM:614204
Trichothiodystrophy 3, Photosensitive
Neutropenia, Bilateral cryptorchidism, Lymphopenia OMIM:616395
Purine Nucleoside Phosphorylase Deficiency
Abnormal T cell morphology, Autoimmune hemolytic anemia, Decreased proportion of CD3-positive T c... ORPHA:760
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Wiskott-Aldrich Syndrome
Acute leukemia, Anemia, Abnormal eosinophil morphology, Hypoplasia of the thymus, Abnormal platel... ORPHA:906
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Perianal abscess, Thrombocytosis, Iron deficiency anemia, Anoperineal fistula, Lymphocytosis, Dec... OMIM:301074
Icf Syndrome
Abnormality of neutrophils, Anemia, Lymphopenia ORPHA:2268
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Perianal abscess, Granuloma, Hepatosplenomegaly, Splenomegaly, Abscess, Lymphopenia, Impaired oxi... OMIM:618935
Herpes Simplex Virus Encephalitis
Neutrophilia, Leukocytosis ORPHA:1930
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Rectovaginal fistula, B lymphocytopen... ORPHA:35078
Cowden Syndrome 1
Angioid streaks of the fundus, Thyroiditis, Hypothyroidism, Varicocele, Ovarian cyst, Thyroid ade... OMIM:158350
Igg4-Related Kidney Disease
Prostatitis, Abnormality of the anterior pituitary, Sialadenitis, Thyroiditis, Eosinophilia ORPHA:449395
Macrocephaly/Autism Syndrome
Hydrocele testis, Penile freckling, Splenomegaly, Lymphopenia OMIM:605309
Wolcott-Rallison Syndrome
Neutropenia, Iron deficiency anemia, Lymphocytosis, Central hypothyroidism, Hypothyroidism, Neona... ORPHA:1667
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells OMIM:617099
Trichothiodystrophy
Gonadal dysgenesis, Cryptorchidism, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Acute Radiation Syndrome
Thrombocytopenia, Granulocytopenia, Lymphopenia ORPHA:454831
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Anemia, B lymphocytopenia, Reticulocytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocyt... ORPHA:508542
Schimke Immunoosseous Dysplasia
Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentration, Anemi... OMIM:242900
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphopenia OMIM:616100
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Autoimmune hemolytic anemia, Impaired lymphocyte transformation with phytohemagglutinin, Leukocyt... OMIM:243150
Short Stature, Microcephaly, And Endocrine Dysfunction
Anemia, Cryptorchidism, Hypothyroidism, Lymphopenia, Insulin resistance, Diabetes mellitus, Micro... OMIM:616541
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Diffuse Cutaneous Mastocytosis
Lymphocytosis, Myeloproliferative disorder, Abnormality of the spleen ORPHA:79456
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Optic atrophy, Anemia, Pancytopenia, Leukocytosis, Bone marrow hypocellularity, Hashimoto thyroid... OMIM:615688
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Ebola Hemorrhagic Fever
Thrombocytopenia, Leukopenia, Lymphopenia ORPHA:319218
Hyper-Igd Syndrome
Leukocytosis, Neutrophilia, Hepatosplenomegaly, Splenomegaly, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
B lymphocytopenia, Optic nerve hypoplasia, Decreased proportion of CD4-positive helper T cells, R... ORPHA:221139
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, Pure red cell ... OMIM:613179
Vici Syndrome
Ocular albinism, T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Leukopen... OMIM:242840
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Recurrent cutaneous abscess formation, Eosinophilia, Cutaneous abscess OMIM:147060
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Increased mean corpuscular volume, Bone marrow hypocellularity, Leukopen... OMIM:127550
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Cartilage-Hair Hypoplasia
Impaired lymphocyte transformation with phytohemagglutinin, Anemia, Macrocytic anemia, Lymphopeni... OMIM:250250
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Delayed puberty, Abnormality of the endocrine system, Primary hypoth... ORPHA:391487
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... ORPHA:534
Fusariosis
Lung abscess, Abnormal retinal morphology, Brain abscess, Granuloma, Abnormality of the spleen, L... ORPHA:228119
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Impaired lymphocyte transformation with phytohemagg... OMIM:614162
Primary Intestinal Lymphangiectasia
Decreased proportion of CD3-positive T cells, Reduced proportion of CD4+ effector memory T cells,... ORPHA:90362
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Neutrophilia, Abscess, Splenomegaly OMIM:612852
Adult-Onset Still Disease
Anemia, Leukocytosis, Bone marrow hypocellularity, Neutrophilia, Splenomegaly ORPHA:829
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Cholelithiasis, Azoospermia ORPHA:2072
Sweet Syndrome
Anemia, Acute myeloid leukemia, Chronic lymphatic leukemia, Sterile abscess, Leukocytosis, Neutro... ORPHA:3243
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Familial Mediterranean Fever
Orchitis, Neutrophilia, Leukocytosis, Splenomegaly OMIM:249100
Proteasome-Associated Autoinflammatory Syndrome 3
Thrombocytopenia, Anemia, Splenomegaly, Lymphopenia OMIM:617591
Down Syndrome
Delayed puberty, Leukemia, Polycythemia, Neutrophilia, Thrombocytopenia, Type II diabetes mellitu... ORPHA:870
Generalized Pustular Psoriasis
Leukocytosis, Lymphopenia ORPHA:247353
Whim Syndrome
Neutropenia, Parotitis, Abnormal neutrophil morphology, Lymphopenia, Cervix cancer ORPHA:51636
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Tropical Endomyocardial Fibrosis
Eosinophilia, Splenomegaly ORPHA:75565
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Viss Syndrome
Retinal detachment, Hypereosinophilia, Hypothyroidism OMIM:619472
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Anemia, Lymphopenia ORPHA:935
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Abnormality of thyroid p... ORPHA:273
Common Variable Immunodeficiency
Autoimmune thrombocytopenia, Splenomegaly, Hemolytic anemia, Lymphopenia ORPHA:1572
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Pontocerebellar atrophy, Chorea, Tremor, Impaired distal vi... OMIM:606002
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Immunodeficiency 82 With Systemic Inflammation
Anemia, Anoperineal fistula, B lymphocytopenia, Decreased proportion of naive T cells, T lymphocy... OMIM:619381
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Male hypogonadism, Primary hypothyroidism, Retinopathy, Glycos... OMIM:219800
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Parotitis, Inappropriate antidiuretic hormone secretion, Leukocytosis, Retinal hemo... ORPHA:99827
Kikuchi-Fujimoto Disease
Anemia, Lymphocytosis, Enlargement of parotid gland, Leukopenia, Splenomegaly, Thrombocytopenia, ... ORPHA:50918
Noonan Syndrome 1
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism OMIM:163950
Cystic Fibrosis
Male infertility OMIM:219700
Dermatomyositis
Abnormal eosinophil morphology ORPHA:221
Yellow Fever
Neutrophilia, Thrombocytopenia, Leukocytosis, Pancreatic hyperplasia ORPHA:99829
Amyotrophic Lateral Sclerosis Type 4
Somatic sensory dysfunction ORPHA:357043
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Cerebellar vermis atrophy, Head tremor, Dystonia, Ataxia, Postural tremor, Choreoathetosis, Somat... ORPHA:64753

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
Setxtm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Setxtm1b(EUCOMM)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice

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