Gene Summary

Name:
dynein, axonemal, heavy chain 2
Synonyms:
D330014H01Rik,  Dnahc2,  2900022L05Rik,  Dnhd3

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
abnormal seminal vesicle morphology Dnah2em1(IMPC)Tcp HOM Early adult 0.00
abnormal lymph node morphology Dnah2em1(IMPC)Tcp HOM Early adult 0.00
male infertility Dnah2em1(IMPC)Tcp HOM Early adult 0.00
hyperactivity Dnah2em1(IMPC)Tcp HOM Early adult 4.89×10-05

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.

Gross Pathology and Tissue Collection

Images

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Eye Morphology

Images Ophthalmoscopy

70 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Histopathology

Images

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Electrocardiogram (ECG)

Waveform Image

2 Images

Human diseases caused by Dnah2 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 Dnah2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094

The table below shows human diseases predicted to be associated to Dnah2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph... OMIM:619712
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 84
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe... OMIM:620409
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 56
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs... OMIM:301059
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs... OMIM:620084
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl... OMIM:619585
Spermatogenic Failure 79
Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia OMIM:620196
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 39
Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f... OMIM:618643
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 41
Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility OMIM:618670
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 51
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea... OMIM:619177
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe... OMIM:619696
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia OMIM:619689
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:612997
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
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 1
Cryptozoospermia, Male infertility, Oligozoospermia OMIM:258150
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Spermatogenic Failure 24
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:619828
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure 38
Abnormal axonemal organization of respiratory motile cilia, Tapered sperm head, Abnormal sperm he... OMIM:618433
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm... OMIM:620356
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis... ORPHA:399808
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Ciliary Dyskinesia, Primary, 51
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo... OMIM:620438
Isochromosomy Yq
Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen... ORPHA:98798
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Male infertility OMIM:620103
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 17
Male infertility OMIM:617214
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Male infertility, Oligozoospermia OMIM:108420
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Deleted in azoospermia
Azoospermia OMIM:400003
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619949
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligozoospermia OMIM:615703
Young Syndrome
Azoospermia OMIM:279000
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Delayed menarche, Azoospermia, Decreased female lib... ORPHA:52901
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Abnormal sperm head morphology, Reduced sperm motility, A... ORPHA:320391
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Spermatogenic Failure 28
Decreased testicular size, Non-obstructive azoospermia, Male infertility OMIM:618086
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 14
Azoospermia, Male infertility, Round spermatid arrest OMIM:615842
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Primary amenorrhea, Infertility OMIM:229070
Spermatogenic Failure 13
Azoospermia, Male infertility OMIM:615841
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus ORPHA:2578
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)
Infertility, Abnormal lymph node morphology OMIM:136580
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Adrenal Hypoplasia, Congenital
Precocious puberty, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Oligozoospermia OMIM:300200
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea OMIM:602390
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Oligozoospermia, Micropenis, Macroorchidism, Hypospadias... ORPHA:8
Premature Ovarian Failure 10
Decreased testicular size, Azoospermia, Hypoplasia of the ovary, Primary amenorrhea, Premature ov... OMIM:612885
Androgen Insensitivity, Partial
Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi... OMIM:312300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia, Absent outer dynein arms OMIM:618300
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Functioning Gonadotropic Adenoma
Abnormality of the menstrual cycle, Decreased female libido, Ovarian cyst, Enlarged polycystic ov... ORPHA:91348
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Pituitary Dermoid And Epidermoid Cysts
Hypogonadism, Amenorrhea, Oligomenorrhea, Oligozoospermia ORPHA:91351
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Lead Poisoning
Decreased male libido, Abnormality of the menstrual cycle, Decreased female libido, Abnormal sper... ORPHA:330015
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ring Chromosome 21 Syndrome
Amenorrhea, Azoospermia, Infertility ORPHA:1445
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Hypogonadism-Cataract Syndrome
Hypogonadism, Infertility, Male hypogonadism OMIM:240950
Immunodeficiency 38 With Basal Ganglia Calcification
Axillary lymphadenopathy, Inguinal lymphadenopathy, Lymphadenopathy OMIM:616126
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Myotonic Dystrophy 2
Hypogonadism, Oligozoospermia OMIM:602668
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Ciliary Dyskinesia, Primary, 18
Absent inner dynein arms, Immotile sperm, Absent outer dynein arms, Male infertility OMIM:614874
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Male sexual dysfunction, Bifid scrotum, Bilateral cryptorchidism, Azoosperm... ORPHA:90797
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism ORPHA:280679
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Ambiguous genitalia, Oligomenorrhea, Oligozoosp... ORPHA:786
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency
Lymphadenopathy ORPHA:319600
Mantle Cell Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:52416
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Squamous Cell Carcinoma Of The Esophagus
Lymphadenopathy ORPHA:99977
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, True hermaphroditism, Ovotestis, Bicornuate uterus, Hypospadia... OMIM:400045
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Small scrotum, Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonad... OMIM:308700
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased testicular size, External genital hy... ORPHA:99330
Hepatic Venoocclusive Disease With Immunodeficiency
Absence of lymph node germinal center OMIM:235550
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Cryptorch... ORPHA:432
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Infertility OMIM:613808
Hemochromatosis, Type 1
Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence OMIM:235200
46,Xx Sex Reversal 2
Small scrotum, Perineal hypospadias, Bifid scrotum, Non-obstructive azoospermia, Azoospermia, Tru... OMIM:278850
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Oligozoospermia, Abnormal testis morphology, Primary testicular failure, Male infer... ORPHA:85450
Pulmonary Nodular Lymphoid Hyperplasia
Mediastinal lymphadenopathy, Follicular hyperplasia ORPHA:60026
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Gapo Syndrome
Hypogonadism, Amenorrhea, Oligozoospermia, Dysmenorrhea ORPHA:2067
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Abnormal vagina morphology, Abnormal labia morphology, Abnormal scrotum mor... ORPHA:251510
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligozoospermia OMIM:614813
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism OMIM:300845
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Clitoral hypertrophy, Abnormal labia majora morphology, Decreased testicular size, Ambiguous geni... ORPHA:90791
Kerion Celsi
Lymphadenopathy ORPHA:499
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Bilateral cryptorchidism, Aplasia of the uterus... ORPHA:99429
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Premature ova... ORPHA:79239
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Reticuloendotheliosis, X-Linked
Hepatosplenomegaly, Lymphadenopathy OMIM:312500
Adenocarcinoma Of The Esophagus
Lymphadenopathy ORPHA:99976
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis ORPHA:251066
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligozoospermia, Male infertility ORPHA:125
Immunodeficiency 75 With Lymphoproliferation
Hepatosplenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:619126
48,Xxxy Syndrome
Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Infertility,... ORPHA:96263
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Chronic noninfectious lymphadenopathy, Oral-pharyngeal dyspha... ORPHA:100083
Familial Glucocorticoid Deficiency
Precocious puberty, Leydig cell neoplasia, Azoospermia, Cryptorchidism, Testicular adrenal rest t... ORPHA:361
Primary Ciliary Dyskinesia
Abnormal sperm motility, Female infertility, Male infertility ORPHA:244
Immunodeficiency 104
Splenomegaly, Lymphadenopathy OMIM:608971
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Aplasia/hypoplasia of the uterus, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Apla... ORPHA:2232
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Male hypogonadism, Precocious puberty in females, Bifid scrotum, Bilatera... ORPHA:90793
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphadenopathy, Splenomegaly, Anorexia ORPHA:86893
Kimura Disease
Abnormal salivary gland morphology, Follicular hyperplasia, Lymphadenopathy ORPHA:482
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, Cryptorchidism, En... ORPHA:91
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma
Nodular goiter, Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy, Goiter ORPHA:319487
Coccidioidomycosis
Abnormality of the female genitalia, Abnormal sperm morphology, Abnormality of the male genitalia ORPHA:228123
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal male external genitalia morphology, Abnormal ovarian morphology, Increased size of the c... ORPHA:95699
Immunodeficiency With Hyper-Igm, Type 5
Epididymitis, Lymphadenopathy OMIM:608106
Carney Complex
Precocious puberty, Leydig cell neoplasia, Abnormal sperm motility, Sertoli cell neoplasm, Abnorm... ORPHA:1359
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Micropenis ORPHA:168569
Bloom Syndrome
Azoospermia, Decreased fertility in females, Cryptorchidism OMIM:210900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Splenomegaly, Lymphadenopathy ORPHA:444463
Burkitt Lymphoma
Abnormality of the ovary, Abnormality of the spleen, Abnormal lymph node morphology ORPHA:543
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Splenomegaly, Lymphadenopathy OMIM:618852
Follicular Lymphoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:545
Immunodeficiency 27A
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Anorexia, Enlarged mesenteric lymph node OMIM:209950
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Lymphadenopathy OMIM:617772
Mast Cell Sarcoma
Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy ORPHA:66661
Woodhouse-Sakati Syndrome
Hypogonadism, Decreased testicular size, Streak ovary, Abnormal spermatogenesis, Micropenis, Prem... ORPHA:3464
Autoimmune Lymphoproliferative Syndrome, Type Iii
Hepatosplenomegaly, Splenomegaly, Follicular hyperplasia, Generalized lymphadenopathy, Lymphadeno... OMIM:615559
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Tetrasomy 9P
Polymicrogyria, Pachygyria, Cryptorchidism, Oligozoospermia, Micropenis, Infertility, Lissencephaly ORPHA:3310
Diphallia
Penoscrotal transposition, Bifid scrotum, Ectopic scrotum, Cryptorchidism, Bifid penis, Rectoperi... ORPHA:227
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:300853
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Fluctuating splenomegaly, Lymphadenopathy OMIM:619220
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Lymphadenopathy OMIM:615513
Lymphoproliferative Syndrome 3
Hepatosplenomegaly, Lymphadenopathy OMIM:618261
Pleural Mesothelioma
Dysphagia, Lymphadenopathy ORPHA:50251
Immunodeficiency 64 With Lymphoproliferation
Cervical lymphadenopathy, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Mediastinal lymphade... OMIM:618534
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Immunodeficiency, Common Variable, 2
Splenomegaly, Follicular hyperplasia, Lymphadenopathy OMIM:240500
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:391
Granulomatous Slack Skin
Abnormal lymph node morphology ORPHA:33111
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Hepatosplenomegaly, Lymphadenopathy OMIM:618982
Alpha-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100025
Mu-Heavy Chain Disease
Splenomegaly, Lymphadenopathy ORPHA:100024
Hemophagocytic Lymphohistiocytosis, Familial, 4
Splenomegaly, Lymphadenopathy OMIM:603552
Immunodeficiency With Hyper-Igm, Type 2
Lymphadenopathy OMIM:605258
Immunodeficiency 76
Splenomegaly, Lymphadenopathy OMIM:619164
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:613101
Rosaï-Dorfman Disease
Lymphadenopathy ORPHA:158014
Immunodeficiency With Hyper-Igm, Type 3
Absence of lymph node germinal center OMIM:606843
Renal Cysts And Diabetes Syndrome
Atretic vas deferens, Epididymal cyst, Reduced sperm motility, Hypoplasia of the uterus, Bicornua... OMIM:137920
Tularemia
Cervical lymphadenopathy, Abnormal nasopharyngeal adenoid morphology, Mediastinal lymphadenopathy... ORPHA:3392
Desmoplastic Small Round Cell Tumor
Lymphadenopathy, Testicular neoplasm, Ovarian neoplasm, Mediastinal lymphadenopathy, Neoplasm of ... ORPHA:83469
Roifman Syndrome
Hypogonadotropic hypogonadism, Hepatosplenomegaly, Lymphadenopathy ORPHA:353298
Caspase 8 Deficiency
Splenomegaly, Lymphadenopathy OMIM:607271
Classic Mycosis Fungoides
Splenomegaly, Lymphadenopathy ORPHA:2584
Immunodeficiency 52
Splenomegaly, Lymphadenopathy OMIM:617514
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Abnormal lymph node morphology, Abnormality of the lymphatic system, Abnormal testis morphology ORPHA:54251
Immunodeficiency 32A
Lymphadenitis, Lymphadenopathy OMIM:614893
Pfapa Syndrome
Splenomegaly, Lymphadenopathy ORPHA:42642
Congenital Toxoplasmosis
Lymphadenopathy ORPHA:858
Activated Pi3K-Delta Syndrome
Splenomegaly, Recurrent tonsillitis, Lymphadenopathy ORPHA:397596
Immunodeficiency 103, Susceptibility To Fungal Infections
Lymphadenopathy OMIM:212050
Thyroid Lymphoma
Dysphagia, Lymphadenopathy, Goiter ORPHA:97285
Immunodeficiency 54
Adrenocorticotropic hormone excess, Splenomegaly, Lymphadenopathy OMIM:609981
Anaplastic Thyroid Carcinoma
Nodular goiter, Dysphagia, Lymphadenopathy, Goiter ORPHA:142
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absent tonsils, Absence of lymph node germinal center ORPHA:277
Schnitzler Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37748
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Follicular hyperplasia, Lymphadenopathy OMIM:619846
Leukocyte Adhesion Deficiency, Type Iii
Hepatosplenomegaly, Splenomegaly, Abnormal lymph node morphology OMIM:612840
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Macroorchidism, Hyperactivity, Elevated circulating growth hormone concentra... ORPHA:85327
Medullary Thyroid Carcinoma
Pheochromocytoma, Lymphadenopathy, Nodular goiter, Dysphagia, Primary hyperparathyroidism ORPHA:1332
Leishmaniasis
Splenomegaly, Lymphadenopathy, Anorexia ORPHA:507
Immunodeficiency 105
Hepatosplenomegaly, Absence of lymph node germinal center OMIM:619924
Immunodeficiency With Hyper-Igm, Type 4
Absence of lymph node germinal center OMIM:608184
Acquired Hypertrichosis Lanuginosa
Ovarian neoplasm, Lymphadenopathy ORPHA:2221
Familial Cold Autoinflammatory Syndrome 2
Splenomegaly, Lymphadenopathy OMIM:611762
Lymphatic Filariasis
Lymphadenitis, Abnormal scrotum morphology, Orchitis, Abnormality of the lymphatic system, Vagina... ORPHA:2035
Immunodeficiency, Common Variable, 1
Splenomegaly, Lymphadenopathy OMIM:607594
Roifman Syndrome
Splenomegaly, Lymphadenopathy OMIM:616651
Thymic Neuroendocrine Tumor
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... ORPHA:97289
Primary Myelofibrosis
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:824
Cystic Fibrosis
Male infertility OMIM:219700
Indolent Systemic Mastocytosis
Splenomegaly, Lymphadenopathy ORPHA:98848
Pseudomyxoma Peritonei
Lymphadenopathy ORPHA:26790
Lymphoproliferative Syndrome 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:615122
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Splenomegaly, Lymphadenopathy OMIM:618495
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Splenomegaly, Lymphadenopathy OMIM:150550
Heme Oxygenase 1 Deficiency
Cervical lymphadenopathy, Asplenia, Lymphadenopathy OMIM:614034
Autoimmune Lymphoproliferative Syndrome, Type Iia
Splenomegaly, Chronic noninfectious lymphadenopathy, Follicular hyperplasia, Lymphadenopathy OMIM:603909
Combined Immunodeficiency Due To Zap70 Deficiency
Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy, Abnormal lymph node morphology ORPHA:911
Aggressive Systemic Mastocytosis
Hypersplenism, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:98850
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Hepatosplenomegaly, Lymphadenopathy OMIM:619750
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:3226
Rhabdoid Tumor
Lymphadenopathy ORPHA:69077
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Lymphadenopathy OMIM:619375
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Fish-Eye Disease
Splenomegaly, Lymphadenopathy ORPHA:79292
Cinca Syndrome
Hepatosplenomegaly, Lymphadenopathy OMIM:607115
Boutonneuse Fever
Cervical lymphadenopathy, Lymphadenopathy ORPHA:83313
Griscelli Syndrome Type 2
Splenomegaly, Lymphadenopathy ORPHA:79477
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Hypopituitarism, Absent peripheral lymph nodes in presence of infection ORPHA:98813
Acute Promyelocytic Leukemia
Addictive alcohol use, Lymphadenopathy, Metrorrhagia, Anorexia ORPHA:520
Immunodeficiency 91 And Hyperinflammation
Hepatosplenomegaly, Lymphadenopathy OMIM:619644
Niemann-Pick Disease, Type A
Splenomegaly, Lymphadenopathy OMIM:257200
Mycosis Fungoides
Lymphadenopathy OMIM:254400
Lig4 Syndrome
Hypoplasia of penis, Cryptorchidism, Lymphadenopathy ORPHA:99812
Cold Agglutinin Disease
Splenomegaly, Lymphadenopathy ORPHA:56425
Griscelli Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:381
Immunodeficiency 7
Splenomegaly, Lymphadenopathy OMIM:615387
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent tonsillitis, Lymphadenitis, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy OMIM:618935
Lymphoproliferative Syndrome, X-Linked, 1
Splenomegaly, Lymphadenopathy OMIM:308240
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Genital ulcers, Lymph node hypoplasia, Splenomegaly, Aplasia of the thymus, Generalized lymphaden... OMIM:602450
Legionnaires Disease
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly, Anorexia ORPHA:549
Proteasome-Associated Autoinflammatory Syndrome 2
Lymphadenopathy OMIM:618048
Immunodeficiency 97 With Autoinflammation
Splenomegaly, Hepatosplenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy OMIM:619802
Sézary Syndrome
Splenomegaly, Lymphadenopathy ORPHA:3162
Papa Syndrome
Lymphadenopathy ORPHA:69126
Cyclic Neutropenia
Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadenopathy ORPHA:2686
Systemic-Onset Juvenile Idiopathic Arthritis
Splenomegaly, Lymphadenopathy ORPHA:85414
Gamma-Heavy Chain Disease
Dysphagia, Splenomegaly, Lymphadenopathy ORPHA:100026
Scrub Typhus
Splenomegaly, Lymphadenopathy ORPHA:83317
Pulmonary Non-Tuberculous Mycobacterial Infection
Lymphadenopathy ORPHA:411703
Cinca Syndrome
Splenomegaly, Lymphadenopathy ORPHA:1451
American Trypanosomiasis
Splenomegaly, Lymphadenopathy ORPHA:3386
Cystinosis, Nephropathic
Male hypogonadism, Male infertility OMIM:219800
Diffuse Cutaneous Mastocytosis
Abnormality of the spleen, Lymphadenopathy ORPHA:79456
Poems Syndrome
Increased circulating prolactin concentration, Hypogonadism, Splenomegaly, Lymphadenopathy, Erect... ORPHA:2905
Hypocomplementemic Urticarial Vasculitis
Splenomegaly, Lymphadenopathy ORPHA:36412
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Cervical lymphadeno... OMIM:602782
Omenn Syndrome
Splenomegaly, Lymphadenopathy ORPHA:39041
Felty Syndrome
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly ORPHA:47612
Immunodeficiency 10
Splenomegaly, Lymphadenopathy OMIM:612783
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Splenomegaly, Lymphadenopathy OMIM:616100
Squamous Cell Carcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424019
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Lymphadenopathy ORPHA:169154
Castleman Disease
Generalized lymphadenopathy, Mediastinal lymphadenopathy, Follicular hyperplasia, Lymphadenopathy ORPHA:160
Adult-Onset Still Disease
Bone marrow hypocellularity, Generalized lymphadenopathy, Lymphadenopathy, Splenomegaly ORPHA:829
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Hepatosplenomegaly, Ovarian carcinoma, Lymphadenopathy, Anorexia ORPHA:1333
Nephroblastoma
Lymphadenopathy ORPHA:654
Immunodeficiency, Common Variable, 8, With Autoimmunity
Splenomegaly, Generalized lymphadenopathy, Lymphadenopathy OMIM:614700
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Cervical lymphadenopathy, Enlargement of parotid gland, Splenomeg... ORPHA:50918
Lymphoproliferative Syndrome 1
Splenomegaly, Lymphadenopathy OMIM:613011
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy OMIM:606367
Noonan Syndrome 1
Hypogonadism, Hypospadias, Cryptorchidism, Male infertility OMIM:163950
Mixed Connective Tissue Disease
Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:809
Mevalonic Aciduria
Fluctuating splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:610377
Carney Triad
Pheochromocytoma, Mediastinal lymphadenopathy, Lymphadenopathy, Anorexia ORPHA:139411
Alström Syndrome
Irregular menstruation, Testicular fibrosis, Precocious puberty in females, Hypoplasia of the Ley... ORPHA:64
Immunodeficiency With Hyper-Igm, Type 1
Enlarged tonsils, Splenomegaly, Absence of lymph node germinal center OMIM:308230
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Lymphadenopathy ORPHA:169090
Omenn Syndrome
Hypoplasia of the thymus, Splenomegaly, Lymphadenopathy OMIM:603554
Proteasome-Associated Autoinflammatory Syndrome 4
Splenomegaly, Lymphadenopathy OMIM:619183
Familial Hemophagocytic Lymphohistiocytosis
Splenomegaly, Lymphadenopathy ORPHA:540
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Splenomegaly, Lymphadenopathy ORPHA:436159
Igg4-Related Submandibular Gland Disease
Enlarged lacrimal glands, Abnormal pancreas morphology, Abnormality of the submandibular glands, ... ORPHA:449432
Waldenström Macroglobulinemia
Splenomegaly, Lymphadenopathy, Anorexia ORPHA:33226
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Lymphadenopathy, Splenomegaly OMIM:301078
Macrophage Activation Syndrome
Splenomegaly, Lymphadenopathy ORPHA:158061
Acute Interstitial Pneumonia
Lymphadenopathy ORPHA:79126
Meige Disease
Lymph node hypoplasia, Absence of lymph node germinal center ORPHA:90186
Hemophagocytic Lymphohistiocytosis, Familial, 2
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy OMIM:603553
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Lymphadenopathy OMIM:304790
Hyperimmunoglobulinemia D With Periodic Fever
Lymphadenopathy ORPHA:343
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:615895
Pancreatoblastoma
Pancreatic calcification, Abnormal lymph node morphology ORPHA:677
Hemophagocytic Lymphohistiocytosis, Familial, 1
Splenomegaly, Lymphadenopathy OMIM:267700
Pediatric Systemic Lupus Erythematosus
Lymphadenopathy ORPHA:93552
Melkersson-Rosenthal Syndrome
Lymphadenopathy ORPHA:2483
Tafro Syndrome
Hepatosplenomegaly, Splenomegaly, Lymphadenopathy ORPHA:457077
Farber Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:333
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Polysplenia, Splenomegaly, Lymphadenopathy, Primary amenorrhea OMIM:619418
Graft Versus Host Disease
Hepatosplenomegaly, Lymphadenopathy ORPHA:39812
Q Fever
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy, Anorexia ORPHA:781
Malakoplakia
Abnormality of the menstrual cycle, Prostate neoplasm, Follicular hyperplasia, Orchitis ORPHA:556
Hyper-Igd Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenitis, Lymphadenopathy OMIM:260920
Drug Reaction With Eosinophilia And Systemic Symptoms
Lymphadenopathy ORPHA:139402
Aregenerative Anemia
Bone marrow hypocellularity, Lymphadenopathy ORPHA:101096
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Hepatosplenomegaly, Absence of lymph node germinal center ORPHA:79124
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Bone marrow hypocellularity, Hepatosplenomegaly, Splenomegaly, Lymphadenopathy, Agitation OMIM:615688
Pulmonary Capillary Hemangiomatosis
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:199241
Proteasome-Associated Autoinflammatory Syndrome 3
Splenomegaly, Lymphadenopathy OMIM:617591
Chediak-Higashi Syndrome
Splenomegaly, Lymphadenopathy OMIM:214500
Autoimmune Lymphoproliferative Syndrome
Bone marrow hypocellularity, Hypersplenism, Chronic noninfectious lymphadenopathy, Splenomegaly, ... ORPHA:3261
Systemic Mastocytosis With Associated Hematologic Neoplasm
Splenomegaly, Lymphadenopathy ORPHA:98849
Klatskin Tumor
Lymphadenopathy ORPHA:99978
Cushing Syndrome Due To Ectopic Acth Secretion
Abnormal libido, Abnormal lymph node morphology, Pancreatic adenocarcinoma, Neoplasm of the thymu... ORPHA:99889
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Lymphadenopathy ORPHA:83471
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Lymphadenopathy OMIM:617099
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233710
Neuroblastoma
Lymphadenopathy ORPHA:635
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Splenomegaly, Lymphadenopathy ORPHA:37042
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:32960
Selective Igm Deficiency
Lymphadenitis, Lymphadenopathy ORPHA:331235
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:233690
Lymphangioleiomyomatosis
Pulmonary lymphangiomyomatosis, Lymphadenopathy, Abnormality of the lymphatic system, Abnormal mo... ORPHA:538
Congenital Syphilis
Hepatosplenomegaly, Lymphadenopathy ORPHA:499009
Brucellosis
Hypersplenism, Splenomegaly, Orchitis, Lymphadenopathy, Anorexia, Epididymitis ORPHA:1304
Hennekam Syndrome
Splenomegaly, Lymphangioma, Lymphadenopathy, Pulmonary lymphangiectasia ORPHA:2136
Acute Generalized Exanthematous Pustulosis
Lymphadenopathy ORPHA:293173
Spondyloenchondrodysplasia With Immune Dysregulation
Lymphadenopathy OMIM:607944
Behçet Disease
Splenomegaly, Lymphadenopathy, Orchitis, Anorexia ORPHA:117
Familial Mediterranean Fever
Splenomegaly, Lymphadenopathy, Orchitis ORPHA:342
Chédiak-Higashi Syndrome
Splenomegaly, Hepatosplenomegaly, Lymphadenopathy ORPHA:167
Crimean-Congo Hemorrhagic Fever
Parotitis, Splenomegaly, Orchitis, Lymphadenopathy, Anorexia, Epididymitis, Agitation ORPHA:99827
Igg4-Related Ophthalmic Disease
Sialadenitis, Orchitis, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy, Enla... ORPHA:449563
Malt Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy ORPHA:52417
Granulomatous Disease, Chronic, X-Linked
Splenomegaly, Lymphadenitis, Lymphadenopathy OMIM:306400
Igg4-Related Kidney Disease
Lymphadenitis, Sialadenitis, Prostatitis, Abnormality of the anterior pituitary, Lymphadenopathy ORPHA:449395
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Cervical lymphadenopathy, Lymphadenopathy OMIM:617718
Common Variable Immunodeficiency
Splenomegaly, Lymphadenopathy ORPHA:1572
Igg4-Related Dacryoadenitis And Sialadenitis
Abnormal salivary gland morphology, Abnormality of the submandibular glands, Enlargement of parot... ORPHA:79078
Marburg Hemorrhagic Fever
Aggressive behavior, Lymphadenopathy, Orchitis, Anorexia ORPHA:99826
Immunodeficiency 31C
Splenomegaly, Lymphadenopathy OMIM:614162
Proteasome-Associated Autoinflammatory Syndrome 1
Irregular menstruation, Parotitis, Splenomegaly, Lymphadenopathy, Epididymitis OMIM:256040
African Trypanosomiasis
Abnormality of the menstrual cycle, Hepatosplenomegaly, Splenomegaly, Aggressive behavior, Lympha... ORPHA:3385
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Splenomegaly, Follicular hyperplasia, Lymphadenopathy, Anorexia OMIM:619381
Sarcoidosis
Abnormal lymph node morphology, Parotitis, Enlargement of parotid gland, Abnormal reproductive sy... ORPHA:797
Multiple Myeloma
Splenomegaly, Lymphadenopathy ORPHA:29073
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Hepatosplenomegaly, Lymphadenopathy ORPHA:85408
Immunodeficiency 55
Lymphadenopathy OMIM:617827
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent peripheral lymph nodes in presence of infection OMIM:600802
Primary Sjögren Syndrome
Vaginal dryness, Lymphadenopathy, Parotitis ORPHA:289390
Chikungunya
Cervical lymphadenopathy, Lymphadenopathy ORPHA:324625
Ileal Neuroendocrine Tumor
Lymphadenopathy ORPHA:100078
Autosomal Recessive Malignant Osteopetrosis
Splenomegaly, Lymphadenopathy ORPHA:667
Systemic Lupus Erythematosus
Lymphadenopathy, Anorexia ORPHA:536
Blau Syndrome
Splenomegaly, Abnormal salivary gland morphology, Lymphadenopathy ORPHA:90340
Leptospirosis
Lymphadenopathy, Anorexia ORPHA:509
Adenocarcinoma Of The Anal Canal
Lymphadenopathy ORPHA:424016

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.

Phenotype Allele Zygosity Sex Life Stage
Nasal cavity - MPATH pathological process term sinusitis Dnah2em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological entity term hydrocephalus Dnah2em1(IMPC)Tcp HOM Early adult
Epididymis - MPATH pathological process term hypospermia Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Dnah2em1(IMPC)Tcp HOM Early adult
Nasal cavity - MPATH pathological process term rhinitis Dnah2em1(IMPC)Tcp HOM Early adult
Brain - MPATH pathological process term developmental dysplasia Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological process term hypospermia Dnah2em1(IMPC)Tcp HOM Early adult
Testis - MPATH pathological entity term germ cell defect Dnah2em1(IMPC)Tcp HOM Early adult

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 Dnah2.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice. Frontiers in cell and developmental biology (April 2021) Dnah2em1(IMPC)Tcp PMC8103034

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MGI Allele Allele Type Produced
Dnah2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Dnah2tm319(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Dnah2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Dnah2em1(IMPC)Tcp Exon Deletion Mice, Tissue

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