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
male infertility Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased total retina thickness Setxtm1b(EUCOMM)Wtsi HOM Early adult 9.68×10-05
increased monocyte cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 7.84×10-10
increased NK cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 2.36×10-05
decreased lymphocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 6.23×10-06
increased eosinophil cell number Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.09×10-07
improved glucose tolerance Setxtm1b(EUCOMM)Wtsi HOM Early adult 2.06×10-05
small testis Setxtm1b(EUCOMM)Wtsi HOM Early adult 0.00
decreased leukocyte cell number Setxtm1b(EUCOMM)Wtsi HOM   Early adult 9.29×10-05

Download data as:  TSV  XLS

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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
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Cerebellar atrophy, Dystonia, Impaired proprioception, Pontocerebellar atrophy, Impaired distal t... OMIM:606002
Amyotrophic Lateral Sclerosis Type 4
Somatic sensory dysfunction ORPHA:357043
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Somatic sensory dysfunction, Dystonia, Choreoathetosis, Cerebellar vermis atrophy, Head tremor, A... 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
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Isochromosomy Yq
Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal... ORPHA:98798
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Spermatogenic Failure 54
Tapered sperm head, Oligospermia, Male infertility, Abnormal sperm axoneme morphology, Cryptozoos... OMIM:619379
Spermatogenic Failure 42
Microcephalic sperm head, Absent sperm flagella, Tapered sperm head, Male infertility, Short sper... OMIM:618745
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, ... OMIM:618643
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Macrocephalic sperm head, Absent sperm f... OMIM:619177
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligospermia, Male infertility, Reduc... ORPHA:529970
Spermatogenic Failure 41
Tapered sperm head, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm OMIM:618670
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 64
Oligospermia, Abnormal sperm head morphology, Male infertility, Reduced progressive sperm motility OMIM:619696
Spermatogenic Failure 4
Azoospermia OMIM:270960
Spermatogenic Failure 6
Decreased acrosin in sperm head, Male infertility, Globozoospermia OMIM:102530
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Coiled sperm flagella, Reduce... OMIM:617959
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Spermatogenic Failure 63
Oligospermia, Decreased testicular size, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired vibratory sensation, Impaired pain sensation, Impaired temperat... DECIPHER:29
Spermatogenic Failure 46
Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Short sperm flagella, Coi... OMIM:619095
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 65
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Abnormal sperm mid-... OMIM:619712
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Male infertility, Coiled sperm ... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Irregularly shaped sperm tail, Absent sperm flagella, Oligospermia, Male infertility, Short sperm... OMIM:301059
Spermatogenic Failure 56
Irregularly shaped sperm tail, Absent sperm flagella, Reduced sperm motility, Oligospermia, Male ... OMIM:619515
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Male infertility, Short sperm flagella, Immotile sperm, Coil... 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, Male infertility, Short sperm flagella, Immotile sperm OMIM:619102
Spermatogenic Failure 58
Irregularly shaped sperm tail, Oligospermia, Male infertility, Short sperm flagella, Immotile spe... OMIM:619585
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 18
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella OMIM:618153
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Eosinophilia, Monocytosis, Thrombocytosis, Congenital agranulocytosis, Neutropenia, Anemia, Acute... OMIM:202700
Spermatogenic Failure 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
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, 2, Autosomal Dominant
Neutropenia, Monocytosis, B lymphocytopenia OMIM:613107
Persistent Mullerian Duct Syndrome, Types I And Ii
Abnormal circulating hormone concentration, Bilateral cryptorchidism, Abnormality of male interna... OMIM:261550
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Eosinophilia, Familial
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia OMIM:131400
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Spinocerebellar Ataxia Type 32
Azoospermia, Male infertility, Testicular atrophy ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Immunodeficiency 88
Eosinophilia OMIM:619630
Immunodeficiency 40
Lymphopenia OMIM:616433
Neutropenia, Lethal Congenital, With Eosinophilia
Neutropenia, Eosinophilia OMIM:257100
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder OMIM:131440
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:614373
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Micropenis, Cryptorchidism, Azoospermia, Decreased testicular size OMIM:614897
Immunodeficiency 8
Lymphopenia OMIM:615401
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Primary amenor... ORPHA:52901
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Juvenile Temporal Arteritis
Eosinophilia, Leukocytosis ORPHA:26137
Acute Myelomonocytic Leukemia
Eosinophilia, Leukocytosis, Thrombocytopenia, Anemia ORPHA:517
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Lymphopenia OMIM:615615
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Eosinophilia, Lymphopenia ORPHA:2582
Nevoid Hypermelanosis, Linear And Whorled
Eosinophilia OMIM:614323
Ichthyosis-Prematurity Syndrome
Eosinophilia ORPHA:88621
Hypogonadism, Male
Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy OMIM:241100
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Hemo... OMIM:614470
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Young Syndrome
Azoospermia OMIM:279000
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Leukopenia, Bone marrow hypocellularity, Monocytosis, Acute myeloid leukemia, Refractory anemia OMIM:616871
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction, Tremor ORPHA:65684
Spermatogenic Failure 28
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... OMIM:618086
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells OMIM:271150
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Immunodeficiency 11B With Atopic Dermatitis
Eosinophilia OMIM:617638
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Impaired proprioception, Gai... ORPHA:95434
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Macrosomia Adiposa Congenita
Eosinophilia, Adrenocortical adenoma OMIM:248100
Generalized Eruptive Histiocytosis
Hypereosinophilia, Leukemia, Histiocytosis ORPHA:157991
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells OMIM:253550
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Immunodeficiency 7
Hypereosinophilia OMIM:615387
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Precocious puberty, Macroorchidism, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Hypereosinophilic Syndrome, Idiopathic
Eosinophilia, Myeloproliferative disorder, Splenomegaly OMIM:607685
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Morbid Obesity And Spermatogenic Failure
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus OMIM:615703
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Immunodeficiency 14B, Autosomal Recessive
Leukocytosis, Monocytosis, Thrombocytosis, Neutrophilia, B lymphocytopenia OMIM:619281
Adult Idiopathic Neutropenia
Neutropenia, Monocytosis, Lymphopenia, Monocytopenia ORPHA:2688
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells OMIM:253400
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis, Absence of puberta... OMIM:614840
Immunodeficiency 19
Lymphopenia OMIM:615617
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Dystonia, Amyotro... OMIM:205100
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Ataxia OMIM:615911
Immunodeficiency 21
Neutropenia, Abnormal natural killer cell morphology, Myeloid leukemia, Aplastic anemia, Monocyto... OMIM:614172
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616437
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Degeneration of anterior horn... OMIM:602433
Myelolymphatic Insufficiency
Leukopenia, Hyposegmentation of neutrophil nuclei OMIM:310350
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Amyotrophic Lateral Sclerosis 1
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Degeneration of the lateral c... OMIM:105400
Thrombocytopenia, Cyclic
Neutropenia, Cyclic neutropenia, Thrombocytopenia OMIM:188020
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Athetosis OMIM:300857
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Infertility, Primary amenorrhea, Cryptorchidism, Micropenis, Decre... OMIM:146110
Neutrophilia, Hereditary
Neutrophilia, Hepatosplenomegaly OMIM:162830
Diamond-Blackfan Anemia 18
Neutropenia, Erythroid hypoplasia, Steroid-responsive anemia OMIM:618310
Kimura Disease
Eosinophilia, Abnormal salivary gland morphology ORPHA:482
Kennedy Disease
Erectile dysfunction, Type II diabetes mellitus, Decreased fertility, Testicular atrophy ORPHA:481
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Hemochromatosis, Type 2A
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Infertility OMIM:602390
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Halothane Hepatitis
Eosinophilia OMIM:234350
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Whim Syndrome 2
Chronic neutropenia OMIM:619407
Immunodeficiency 50
Neutropenia, Lymphopenia OMIM:300988
Holoprosencephaly, Recurrent Infections, And Monocytosis
Cryptorchidism, Monocytosis, Micropenis OMIM:610680
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Immunodeficiency 24
Reduced proportion of mucosal-associated invariant T cells, Decreased CD4:CD8 ratio, Decreased pr... OMIM:615897
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm morphology, Infertility, Decreased testicular size, Abnormal sperm head morphology... ORPHA:320391
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Distal sensory impairment, Hand tremor, Degeneration of anterior horn cells, Axonal degeneration OMIM:604484
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
T-Cell Immunodeficiency, Recurrent Infections, And Autoimmunity With Or Without Cardiac Malformations
Neutropenia, Lymphopenia OMIM:614868
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis ORPHA:2183
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Cerebral atrophy, Abnormal lower motor neuron morphology... OMIM:105550
Cyclic Neutropenia
Neutropenia, Cyclic neutropenia OMIM:162800
Adrenal Hypoplasia, Congenital
Adrenal insufficiency, Hypogonadotropic hypogonadism, Primary adrenal insufficiency, Cryptorchidi... OMIM:300200
Eosinophilopenia
Decreased eosinophil count OMIM:131430
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Autosomal Dominant Severe Congenital Neutropenia
Eosinophilia, Monocytosis, Leukemia, Acute myeloid leukemia, Neutropenia, Aplastic anemia, Acute ... ORPHA:486
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia OMIM:212050
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, T lymphocytopenia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly... ORPHA:169154
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
Reticular Dysgenesis
Hypoplasia of the thymus, Congenital agranulocytosis, Leukopenia, Lymphopenia OMIM:267500
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:601859
Mayer-Rokitansky-K├╝ster-Hauser Syndrome Type 2
Azoospermia, Aplasia/hypoplasia of the uterus, Bicornuate uterus ORPHA:2578
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Primary amenorrhea, Female hypogonadism, Delayed puberty, Cryptorc... ORPHA:432
X-Linked Severe Congenital Neutropenia
Neutropenia, Monocytopenia ORPHA:86788
Amyotrophic Lateral Sclerosis 8
Neuronal loss in central nervous system, Postural tremor, Amyotrophic lateral sclerosis OMIM:608627
Cinca Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Papilledema, Anemia OMIM:607115
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Ataxia OMIM:607596
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308700
Wells Syndrome
Eosinophilia ORPHA:901
Neutropenia, Severe Congenital, 7, Autosomal Recessive
Neutropenia OMIM:617014
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Boucher-Neuhauser Syndrome
Cerebellar atrophy, Intention tremor, Ataxia, Spinocerebellar atrophy, Gait ataxia, Abnormal uppe... OMIM:215470
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:612069
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Temporal cortical atrophy, Facial palsy, Amyotrophic lateral sclerosis, Frontal cortica... OMIM:167320
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Hypoplasia of the thymus, Lymphopenia OMIM:200900
47,Xyy Syndrome
Varicocele, Cryptorchidism, Micropenis, Azoospermia, Increased serum testosterone level, Oligospe... ORPHA:8
Eosinophil Peroxidase Deficiency
Abnormal eosinophil morphology OMIM:261500
Esophagitis, Eosinophilic, 1
Eosinophilia OMIM:610247
Esophagitis, Eosinophilic, 2
Eosinophilia OMIM:613412
Ciliary Dyskinesia, Primary, 40
Azoospermia, Absent outer dynein arms, Infertility, Patent ductus arteriosus OMIM:618300
Omenn Syndrome
Eosinophilia, Splenomegaly, Severe B lymphocytopenia, Anemia, B lymphocytopenia, Hypoplasia of th... OMIM:603554
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Degeneration of anterior horn cells, Tremor OMIM:159950
Lymphoid System Deterioration, Progressive
Lymphopenia, Abnormal T cell morphology OMIM:247630
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Leukopenia, Monocytosis, Cryptorchidism, Splenomegaly, Thrombocytopenia, Neutropenia, Anemia, Hyp... OMIM:612541
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for... ORPHA:261519
Roifman Syndrome
Eosinophilia, Hypogonadotropic hypogonadism, Retinal dystrophy, Hepatosplenomegaly ORPHA:353298
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Hypothyroidism, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Neut... OMIM:304790
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive
Eosinophilia OMIM:618282
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to growth hormon... ORPHA:280679
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Dysmetria, Dystonia, Ataxia, Postural tremor, Cerebral cortical atrophy, Abno... OMIM:607694
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Distal sensory impai... OMIM:606070
Neutropenia, Severe Congenital, X-Linked
Neutropenia OMIM:300299
Aicardi-Goutieres Syndrome 2
Lymphocytosis OMIM:610181
48,Xyyy Syndrome
Azoospermia, Primary gonadal insufficiency, Male hypogonadism ORPHA:99329
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Eosinophilia, Decreased proportion of CD3-positive T cells, Hepatosplenomegaly, Autoimmune hemoly... ORPHA:331206
Ring Chromosome 21 Syndrome
Azoospermia, Infertility, Diabetes insipidus, Amenorrhea ORPHA:1445
Immunodeficiency 49
Eosinophilia, Lymphopenia OMIM:617237
Hemochromatosis, Type 1
Hypogonadotropic hypogonadism, Amenorrhea, Azoospermia, Testicular atrophy, Impotence, Diabetes m... OMIM:235200
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, Azoospermia, Decreased serum testo... ORPHA:99330
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Neutrophilia, Thrombocytopenia OMIM:619644
Agammaglobulinemia 7, Autosomal Recessive
Neutropenia OMIM:615214
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Eosinophilia OMIM:253600
Specific Granule Deficiency 1
Increased neutrophil ribosomes, Increased neutrophil mitochondria, Impaired neutrophil bactericid... OMIM:245480
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Eosinophilic Fasciitis
Eosinophilia, Abnormal eosinophil morphology ORPHA:3165
Autoimmune Lymphoproliferative Syndrome, Type Iia
Eosinophilia, Coombs-positive hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocy... OMIM:603909
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Decreased fertility in males, Male pseudohermaphroditism, Abnormal circulating de... ORPHA:90791
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities
Eosinophilia OMIM:618092
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Autoimmune hemolytic anemia, Lymphopenia, Plasmacytosis OMIM:247800
Immunodeficiency 25
Eosinophilia, T lymphocytopenia, Autoimmune hemolytic anemia OMIM:610163
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Hepatosplenomegaly, Eosinophilia, Decreased proportion of CD3-positive T cells, Lymphopenia ORPHA:169160
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Splenomegaly OMIM:606445
Congenital Arthrogryposis With Anterior Horn Cell Disease
Cerebral atrophy, Dystonia, Paucity of anterior horn motor neurons, Abnormal anterior horn cell m... OMIM:611890
Polyglucosan Body Neuropathy, Adult Form
Paresthesia, Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor neuron morp... OMIM:263570
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Leukopenia, Splenomegaly, Neutropenia, Anemia, Thrombocytopenia, Extramedullary hematopoiesis OMIM:615285
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Eosinophilia, Cutaneous abscess OMIM:147060
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Small scrotum, Perineal hypospadias, Cryptorchidism, Hypoplasia of penis, Ambiguous genitalia, ma... ORPHA:753
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Omenn Syndrome
Abnormal lymphocyte morphology, Hypothyroidism, Eosinophilia, Leukocytosis, Splenomegaly, Thyroid... ORPHA:39041
Neutropenia, Severe Congenital, 6, Autosomal Recessive
Neutropenia OMIM:616022
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive
Eosinophilia, Decreased proportion of CD4-positive helper T cells, Reduced natural killer cell count OMIM:243700
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadis... OMIM:300845
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Global brain atrophy, Amyotrophic lateral sclerosis OMIM:619132
Hypogonadism-Cataract Syndrome
Elevated circulating follicle stimulating hormone level, Infertility, Male hypogonadism, Hypogona... OMIM:240950
Hemochromatosis, Type 3
Hypogonadotropic hypogonadism, Amenorrhea, Neutropenia, Anemia, Impotence, Lymphopenia OMIM:604250
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive
Eosinophilia OMIM:618523
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Neutropenia ORPHA:90023
Pancytopenia And Occlusive Vascular Disease
Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:167850
Cernunnos-Xlf Deficiency
T lymphocytopenia, Thrombocytopenia, Anemia, B lymphocytopenia, Lymphopenia ORPHA:169079
Motor Neuron Disease With Dementia And Ophthalmoplegia
Cerebral atrophy, Degeneration of anterior horn cells OMIM:600333
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Primary amenorrhea, Cryptorchidism, Micropenis, Hypogonadism, Decreased testicular size OMIM:616030
Juvenile Amyotrophic Lateral Sclerosis
Opisthotonus, Dystonia, Axial dystonia, Ataxia, Chorea, Head titubation, Retrocollis, Amyotrophic... ORPHA:300605
Immunodeficiency Due To Interleukin-1 Receptor-Associated Kinase-4 Deficiency
Neutropenia ORPHA:70592
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy OMIM:606353
O'Sullivan-Mcleod Syndrome
Eosinophilia ORPHA:99965
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Roifman Syndrome
Eosinophilia, Retinal dystrophy, Splenomegaly OMIM:616651
Autoinflammation, Immune Dysregulation, And Eosinophilia
Eosinophilia, Hypothyroidism, Hepatosplenomegaly OMIM:618999
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Degeneration of anterior horn cells OMIM:301830
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration ORPHA:803
48,Xxyy Syndrome
Infertility, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes mellitus, Hypergo... ORPHA:10
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology, Cranial nerve compression, Brain... ORPHA:52430
Immunodeficiency 31C
Hypothyroidism, Autoimmune hemolytic anemia, Diabetes mellitus, Delayed puberty, Lymphopenia OMIM:614162
Systemic Mastocytosis With Associated Hematologic Neoplasm
Eosinophilia, Abnormal mast cell morphology, Leukocytosis, Normocytic anemia, Chronic myelomonocy... ORPHA:98849
Eosinophilic Gastroenteritis
Anemia, Leukocytosis, Eosinophilia ORPHA:2070
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, B lymphocytopenia OMIM:233650
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Neutropenia, Diabetes mellitus, T... OMIM:598500
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Hemolytic anemia, Lymphop... ORPHA:444463
Glutathione Synthetase Deficiency
Neutropenia, Pigmentary retinopathy, Hemolytic anemia OMIM:266130
Immunodeficiency 68
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count, Abscess OMIM:612260
Pgm3-Cdg
Eosinophilia, T lymphocytopenia, Leukopenia, Decreased proportion of CD3-positive T cells, Bone m... ORPHA:443811
Combined Immunodeficiency Due To Zap70 Deficiency
Eosinophilia, Hepatosplenomegaly, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Absen... ORPHA:911
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, T lymphocytopenia, Leukopenia, Hepatosplenomegaly, Impaired neutrophil chemotaxis, ... OMIM:618986
Immunodeficiency 76
T lymphocytopenia, Lymphopenia, Splenomegaly, B lymphocytopenia OMIM:619164
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Abnormal lower motor neuron morphology OMIM:611067
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Reduced natural killer cell count OMIM:618261
Idiopathic Acute Eosinophilic Pneumonia
Abnormal eosinophil morphology ORPHA:724
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Acute Erythroid Leukemia
Pancytopenia, Leukopenia, Bone marrow hypocellularity, Anemia, Erythroid hypoplasia ORPHA:318
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Neutropenia, Acute myeloid leukemia OMIM:607847
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Absent circulating B cells, Transient neutropenia OMIM:619707
Trimethylaminuria
Neutropenia, Anemia, Splenomegaly OMIM:602079
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Global brain atrophy, Degeneration of the lateral cortico... ORPHA:275872
Dyskeratosis Congenita, Autosomal Recessive 2
Pancytopenia, Thrombocytopenia, Bone marrow hypocellularity, Testicular atrophy OMIM:613987
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Hereditary Folate Malabsorption
Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Eosinophilia ORPHA:90045
Machado-Joseph Disease Type 3
Cerebellar atrophy, Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, D... ORPHA:276244
Immunodeficiency 52
Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Increased proportion... OMIM:617514
Transcobalamin Deficiency
Pancytopenia, Neutropenia, Lymphopenia, Thrombocytopenia ORPHA:859
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Frontotemporal cerebral atrophy, Temporal cortical atroph... ORPHA:100070
Idiopathic Chronic Eosinophilic Pneumonia
Hypereosinophilia, Leukocytosis ORPHA:2902
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Eosinophilia, Reduced red cell adenosine deaminase level, Autoimmune thrombocytopenia, Autoimmune... OMIM:102700
Late-Onset Isolated Acth Deficiency
Eosinophilia, Hypoglycemia, Normocytic anemia, Hashimoto thyroiditis, Graves disease, Decreased c... ORPHA:199299
Bone Marrow Failure Syndrome 2
Anemia, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia OMIM:615715
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Immunodeficiency 20
Reduced natural killer cell count OMIM:615707
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Acquired Partial Lipodystrophy
Lymphocytosis, Insulin resistance ORPHA:79087
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Neutropenia OMIM:610798
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Neutropenia, Anemia, Increased... OMIM:619041
Immunodeficiency 13
T lymphocytopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, ... OMIM:615518
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the fundus, Leukopenia, Thrombocytopenia, Ocular albinism OMIM:614171
Fanconi Anemia, Complementation Group G
Neutropenia, Anemia, Thrombocytopenia, Leukemia OMIM:614082
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Decreased circulating dehydroepiandrosterone concentration, Testicular adr... ORPHA:361
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hypergonadotropic hypogonadism, Male hypogonadism, Hyperglycemia OMIM:307500
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... OMIM:308750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Pancytopenia, Hepatosplenomegaly, Hemophagocytosis, Acute myeloid leukemia, Splenomegaly, Prostat... ORPHA:158057
Retinal Venous Beading
Retinal neovascularization, Neutropenia, Abnormal distribution of retinal arterioles and venules,... OMIM:180080
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Incontinentia Pigmenti
Eosinophilia, Leukocytosis, Retinal vascular proliferation, Retinal hemorrhage, Hypoplasia of the... OMIM:308300
Aspergillosis
Neutropenia, Eosinophilia, Vitritis ORPHA:1163
Anemia, Sideroblastic, 5
Neutropenia, Anemia, Thrombocytopenia, Reduced hematocrit, Hypochromic microcytic anemia OMIM:619523
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
48,Xxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes me... ORPHA:96263
Functioning Gonadotropic Adenoma
Infertility, Panhypopituitarism, Ovarian cyst, Adrenocorticotropic hormone deficiency, Oligosperm... ORPHA:91348
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Male inf... OMIM:617091
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Eosinophilia, Lymphopenia OMIM:617425
Autoimmune Lymphoproliferative Syndrome
Eosinophilia, Bone marrow hypocellularity, Coombs-positive hemolytic anemia, Autoimmune hemolytic... ORPHA:3261
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Thyroiditis, Autoimmune hemolytic anemia, Splenomegaly OMIM:617388
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Adrenal insufficiency, Hypothyroidism, Abnormality of the hypothalamus-pituitary axis, Azoospermi... ORPHA:300298
Bone Marrow Failure Syndrome 6
Hypothyroidism, Bone marrow hypocellularity, Neutropenia, Anemia, Increased mean corpuscular volu... OMIM:618849
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Vocal Cord And Pharyngeal Distal Myopathy
Distal sensory impairment, Amyotrophic lateral sclerosis, Decreased nerve conduction velocity ORPHA:600
Immunodeficiency 23
Eosinophilia, Abscess, Neutropenia, Hemolytic anemia, Lymphopenia OMIM:615816
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduction velocity... OMIM:118301
Cystic Echinococcosis
Eosinophilia, Abnormality of the testis size, Ovarian cyst, Peritoneal abscess, Splenic cyst, Abs... ORPHA:400
Drug Reaction With Eosinophilia And Systemic Symptoms
Thyroiditis, Lymphocytosis, Eosinophilia ORPHA:139402
Wolfram Syndrome 1
Hypothyroidism, Sideroblastic anemia, Diabetes insipidus, Megaloblastic anemia, Testicular atroph... OMIM:222300
Cyclic Neutropenia
Decreased eosinophil count, Thrombocytopenia, Tooth abscess, Cyclic neutropenia, Perianal abscess... ORPHA:2686
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
49,Xxxxy Syndrome
Infertility, Small scrotum, Cryptorchidism, Azoospermia, Hypoplasia of penis, Type II diabetes me... ORPHA:96264
Immunodeficiency 57 With Autoinflammation
T lymphocytopenia, B lymphocytopenia, Perianal abscess, Reduced natural killer cell count OMIM:618108
Acquired Idiopathic Sideroblastic Anemia
Pancytopenia, Hypochromic anemia, Leukocytosis, Granulocytopenia, Normocytic anemia, Bone marrow ... ORPHA:75564
8P11.2 Deletion Syndrome
Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Patent ductus arte... ORPHA:251066
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor ORPHA:2590
Idiopathic Camptocormia
Cerebral atrophy, Syringomyelia, Dystonia, Myelitis, Amyotrophic lateral sclerosis ORPHA:1320
Refractory Anemia
Bone marrow hypocellularity, Normocytic anemia, Neutropenia, Macrocytic anemia, Normochromic anem... ORPHA:98826
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Bloom Syndrome
Cryptorchidism, Azoospermia, Type II diabetes mellitus, Decreased fertility in females OMIM:210900
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, HbH hemoglobin, Neutropenia, Acute leukemia, Thrombocytopenia ORPHA:231401
Netherton Syndrome
Hypereosinophilia OMIM:256500
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Leukopenia, Bone marrow hypocellularity, Thrombocytosis, Acute myeloid leukemia, Anisocytosis, Ab... ORPHA:86841
Primary Lateral Sclerosis
Atrophy of the spinal cord, Abnormal upper motor neuron morphology, Cervical spinal cord atrophy ORPHA:35689
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Loeffler Endocarditis
Eosinophilia ORPHA:75566
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Reduction of neutrophil motility, Leukocytosis, Impaired neutrophil chemotaxis, Rectal abscess, N... OMIM:608203
Ataxia-Telangiectasia
Polycystic ovaries, Aplasia/Hypoplasia of the thymus, Diabetes mellitus, Type II diabetes mellitu... ORPHA:100
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Abnormal upper motor neuron morphology, Caudate atrophy OMIM:221770
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility OMIM:614874
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Immunodeficiency 85 And Autoimmunity
T lymphocytopenia, Decreased proportion of memory B cells, Decreased proportion of CD4-positive h... OMIM:619510
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Lymphopenia, Hemolytic anemia, Genital ulcers, Thrombocytopenia OMIM:616744
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Degeneration of anterior horn cells, Axonal degeneration, Decreased nerve conduction velocity OMIM:604320
Fanconi Anemia, Complementation Group A
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227650
Igg4-Related Aortitis
Hypereosinophilia ORPHA:449400
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Cryptorchidism, Secondary amenorrhea, Male in... ORPHA:79239
Iga Pemphigus
Eosinophilia, Cutaneous abscess ORPHA:555905
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dystonia, Oromandibular dystonia, Ata... OMIM:614298
Myotonic Dystrophy 1
Cholelithiasis, Hypogonadism, Testicular atrophy OMIM:160900
Immunodeficiency 54
Adrenal insufficiency, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural killer c... OMIM:609981
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Macrophage Activation Syndrome
Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, Anemia, Thromboc... ORPHA:158061
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology ORPHA:1164
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Neutropenia, Anemia, Hydrocele testis, Congenital thrombocytopenia OMIM:616738
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Hypoplastic spleen, T lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin... OMIM:619313
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
T lymphocytopenia, Lymphopenia, B lymphocytopenia ORPHA:277
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Hyper-Ige Recurrent Infection Syndrome 4A, Autosomal Dominant
Neutropenia, Lymphopenia, Reduced natural killer cell count, Cutaneous abscess OMIM:619752
Nephrotic Syndrome, Type 14
Adrenal insufficiency, Hypothyroidism, Hypoglycemia, Cryptorchidism, Micropenis, Lymphopenia, Hyp... OMIM:617575
Deafness-Lymphedema-Leukemia Syndrome
Leukocytosis, Bone marrow hypocellularity, Abnormality of the optic nerve, Abnormal neutrophil co... ORPHA:3226
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Pancytopenia, Thrombocytosis, Megaloblastic anemia, Macrocytic anemia, Anemia of inadequate produ... OMIM:617780
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism, Delayed puberty ORPHA:90646
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Chorioretinal coloboma, Lymphopenia ORPHA:1116
Thrombocytopenia 5
Neutropenia, Anemia, Thrombocytopenia OMIM:616216
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Wiskott-Aldrich Syndrome
Eosinophilia, Autoimmune hemolytic anemia, Absent microvilli on the surface of peripheral blood l... OMIM:301000
Lymphatic Filariasis
Hypereosinophilia, Orchitis, Vaginal hydrocele, Urethral obstruction, Epididymitis, Hydrocele tes... ORPHA:2035
Felty Syndrome
Neutropenia, Splenomegaly OMIM:134750
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Hemophagocytosis, Splenomegaly, Neutropenia, Aplastic anemia, Lymphocytosis, Thromb... OMIM:308240
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abnormal CD4:CD8 ratio, Intermittent thrombocytopenia, Splenomegaly, Neutropenia, B lymphocytopen... OMIM:150550
Autosomal Dominant Hyper-Ige Syndrome
Eosinophilia ORPHA:2314
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Splenomegaly, Anemia, Thrombocytopenia, Reduced natural killer cell count OMIM:616050
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mal... ORPHA:91
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
H Syndrome
Amenorrhea, Azoospermia, Micropenis, Diabetes mellitus, Delayed puberty, Hypogonadism, Decreased ... ORPHA:168569
Combined Immunodeficiency Due To Partial Rag1 Deficiency
T lymphocytopenia, Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neu... ORPHA:231154
Immunodeficiency 89 And Autoimmunity
Hypochromic microcytic anemia, Decreased eosinophil count OMIM:619632
Diamond-Blackfan Anemia 4
Neutropenia, Reticulocytopenia, Erythroid hypoplasia, Macrocytic anemia OMIM:612527
Idiopathic Aplastic Anemia
Pancytopenia, Bone marrow hypocellularity, Retinal hemorrhage, Neutropenia, Anemia, Reticulocytop... ORPHA:88
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Male infertility, Immotile sperm, Abs... OMIM:613807
Diamond-Blackfan Anemia 5
Leukopenia, Hypospadias, Macrocytic anemia, Reticulocytopenia, Erythroid hypoplasia OMIM:612528
Diamond-Blackfan Anemia 8
Neutropenia, Increased mean corpuscular volume, Macrocytic anemia OMIM:612563
Lymphangiectasia, Intestinal
Lymphopenia OMIM:152800
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Diabetes mellitus, Hypogon... OMIM:602668
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Panhypopituitarism, Anterior hypopituitarism, Increased circulating p... ORPHA:91351
Fanconi Anemia, Complementation Group V
Neutropenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity OMIM:617243
Fanconi Anemia, Complementation Group E
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:600901
Incontinentia Pigmenti
Eosinophilia, Retinal vascular proliferation, Retinal hemorrhage, Supernumerary nipple, Retinal d... ORPHA:464
Alveolar Echinococcosis
Eosinophilia, Pancreatic cysts, Cutaneous abscess, Abnormality of adrenal morphology, Abnormal sp... ORPHA:284
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell count, Neutropenia, An... ORPHA:158048
Igg4-Related Submandibular Gland Disease
Eosinophilia, Abnormal salivary gland morphology, Enlarged lacrimal glands, Abnormality of the th... ORPHA:449432
Mucoepithelial Dysplasia, Hereditary
Eosinophilia OMIM:158310
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, T lymphocytopenia, Decreased proportion of memory B cells, Hepatosplenomegaly, Abno... ORPHA:79124
Angiostrongyliasis
Hypereosinophilia ORPHA:74
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Anemia, Liver abscess, Abnormal testis morphology, Brain abscess ORPHA:54251
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
T lymphocytopenia, Hypereosinophilia, Decreased proportion of CD4-positive helper T cells, Decrea... ORPHA:508533
Igg4-Related Pachymeningitis
Eosinophilia, Abnormality of the optic nerve, Parotitis ORPHA:449427
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Noonan Syndrome 12
Decreased response to growth hormone stimulation test, Lymphopenia, Thrombocytopenia OMIM:618624
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Macrocytic anemia, Increased hemoglobin, Anisocytosis, Neutrope... OMIM:300835
Eosinophilic Granulomatosis With Polyangiitis
Eosinophilia ORPHA:183
Symptomatic Form Of Hemochromatosis Type 1
Infertility, Hypogonadotropic hypogonadism, Hypothyroidism, Amenorrhea, Erectile dysfunction, Dec... ORPHA:465508
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Eosinophilia, Hepatosplenomegaly, Leukocytosis, Pancreatic cysts, Anemia, ... OMIM:274000
Cushing Disease
Pituitary corticotropic cell adenoma, Leukocytosis, Optic nerve compression, Amenorrhea, Oligomen... ORPHA:96253
Congenital Disorder Of Glycosylation, Type Iic
Reduction of neutrophil motility, Neutrophilia OMIM:266265
Spinal muscular atrophy, type I, with congenital bone fractures
Degeneration of anterior horn cells OMIM:271225
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Impaired vibratory sensation OMIM:601162
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia OMIM:207731
Mirage Syndrome
Hypoplastic spleen, Adrenal insufficiency, Hypoglycemia, Leukopenia, Cryptorchidism, Shawl scrotu... OMIM:617053
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
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Eosinophilia, Abnormal retinal mo... ORPHA:228123
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Leukocytosis, Central hypothyroidism, Anemia, Acute monocytic leukemia, Lymph... ORPHA:514
Ataxia-Telangiectasia
T lymphocytopenia, Female hypogonadism, Leukemia, Abnormal spermatogenesis, Decreased proportion ... OMIM:208900
Neutropenia, Severe Congenital, 8, Autosomal Dominant
Neutropenia OMIM:618752
Idiopathic Hypereosinophilic Syndrome
Eosinophilia, Hepatosplenomegaly, Leukocytosis, Thrombocytosis, Myeloproliferative disorder, Neut... ORPHA:3260
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of the anterior pituitary, Orchitis, Enlarged lacrimal glands, Abnormal... ORPHA:449563
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Macrocephaly/Autism Syndrome
Splenomegaly, Lymphopenia OMIM:605309
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Fanconi Anemia, Complementation Group C
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227645
Acute Panmyelosis With Myelofibrosis
Pancytopenia, Bone marrow hypocellularity, Acute myeloid leukemia, Splenomegaly, Lymphocytosis, A... ORPHA:86843
Immunodeficiency 36
Chronic lymphatic leukemia, Splenomegaly, Lymphopenia OMIM:616005
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Primary amenorrhea, Testicular atrophy, Secondary amenorrhea, Premature ovarian insufficiency, Hy... OMIM:157640
Generalized Glucocorticoid Resistance Syndrome
Increased circulating ACTH level, Infertility, Adrenal hyperplasia, Increased urinary cortisol le... ORPHA:786
Mody
Glycosuria, Retinopathy, Neonatal hypoglycemia, Pancreatic hypoplasia, Insulin-resistant diabetes... ORPHA:552
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Scleroderma
Hypereosinophilia ORPHA:801
Staphylococcal Necrotizing Pneumonia
Leukocytosis, Leukopenia, Increased circulating procalcitonin concentration, Neutrophilia, Diabet... ORPHA:36238
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Ghosal Hematodiaphyseal Dysplasia
Leukopenia, Bone marrow hypocellularity, Thrombocytopenia, Refractory anemia OMIM:231095
Histiocytosis-Lymphadenopathy Plus Syndrome
Patent ductus arteriosus, Azoospermia, Micropenis, Pancreatic hypoplasia, Decreased response to g... OMIM:602782
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation da... OMIM:278800
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Cryptorchidism, Micropenis, Deficient excision of UV-induced pyrimidine... OMIM:227646
Immunodeficiency 92
Leukocytosis, Thrombocytosis, B lymphocytopenia, Decreased proportion of class-switched memory B ... OMIM:619652
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Thrombocytopenia, Decreased mean platelet volume OMIM:617718
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Lymphopenia ORPHA:391307
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
T lymphocytopenia, Reduced natural killer cell count OMIM:242860
T-Cell Immunodeficiency With Thymic Aplasia
Abnormal T cell morphology, Hepatosplenomegaly, Lymphopenia, Aplasia of the thymus OMIM:242700
Hermansky-Pudlak Syndrome 2
Hepatosplenomegaly, Decreased CD4:CD8 ratio, Absent platelet dense granules, Splenomegaly, Neutro... OMIM:608233
Aarskog-Scott Syndrome
Cryptorchidism, Elevated circulating luteinizing hormone level, Shawl scrotum, Decreased serum te... OMIM:305400
Insulin-Resistance Syndrome Type B
Glycosuria, Postprandial hyperglycemia, Thrombocytopenia, Abnormal oral glucose tolerance, Fastin... ORPHA:2298
Sneddon Syndrome
Lymphopenia OMIM:182410
Onychotrichodysplasia And Neutropenia
Neutropenia, Chronic neutropenia, Lymphocytosis OMIM:258360
Bloom Syndrome
Azoospermia, Oligospermia, Male infertility, Diabetes mellitus, Premature ovarian insufficiency ORPHA:125
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Oligospermia, Male infertility, Abnormal testis morphology, Hypogonadism ORPHA:85450
X-Linked Lymphoproliferative Disease
Pancytopenia, T lymphocytopenia, Hepatosplenomegaly, Bone marrow hypocellularity, Histiocytosis, ... ORPHA:2442
Immunodeficiency 67
Liver abscess, Transient neutropenia OMIM:607676
Relapsing Fever
Leukopenia, Leukocytosis, Neutrophilia, Anemia, Thrombocytopenia