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Gene: AU040320 MGI:2140475

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Gene Summary

Name:
expressed sequence AU040320
Synonyms:
N/A

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal coat/hair pigmentation AU040320em1(IMPC)J HOM Late adult 3.47×10-05
impaired righting response AU040320em1(IMPC)J HOM Late adult 8.83×10-07
increased exploration in new environment AU040320em1(IMPC)J HOM Late adult 0.00
abnormal retina morphology AU040320em1(IMPC)J HOM Early adult 1.68×10-07
hyperactivity AU040320em1(IMPC)J HOM Early adult 3.94×10-07
absent vibrissae AU040320em1(IMPC)J HOM   Late adult 1.93×10-05
decreased bone mineral density AU040320em1(IMPC)J HOM Early adult 2.37×10-05
decreased grip strength AU040320em1(IMPC)J HOM Late adult 1.06×10-09
abnormal retina morphology AU040320em1(IMPC)J HOM Late adult 6.57×10-12
limb grasping AU040320em1(IMPC)J HOM Late adult 2.79×10-07
male infertility AU040320em1(IMPC)J HOM Early adult 0.00
decreased lean body mass AU040320em1(IMPC)J HOM Late adult 3.95×10-05
hyperactivity AU040320em1(IMPC)J HOM Late adult 8.32×10-09
decreased bone mineral content AU040320em1(IMPC)J HOM Early adult 4.50×10-06
increased total body fat amount AU040320em1(IMPC)J HOM Late adult 3.24×10-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Forepaw

10 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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Eye Morphology

Images Ophthalmoscopy

14 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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PDF thumbnail PDF
Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by AU040320 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 AU040320 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Dysphagia, Foot joint contracture, Joint contracture of the hand, Abn... ORPHA:220402

The table below shows human diseases predicted to be associated to AU040320 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Reduced sperm motility, Male infertility, Oligospermia, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure 54
Cryptozoospermia, Oligospermia, Short sperm flagella, Coiled sperm flagella, Abnormal sperm axone... OMIM:619379
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Reduced sperm motility, Male infertility OMIM:614822
Spermatogenic Failure 65
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619712
Spermatogenic Failure 39
Oligospermia, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertilit... OMIM:618643
Spermatogenic Failure 64
Abnormal sperm head morphology, Reduced progressive sperm motility, Oligospermia, Male infertility OMIM:619696
Spermatogenic Failure 56
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Irregularly... OMIM:301059
Spermatogenic Failure 41
Immotile sperm, Short sperm flagella, Male infertility, Tapered sperm head, Oligospermia OMIM:618670
Spermatogenic Failure 40
Immotile sperm, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertil... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Male infertility, Oli... OMIM:620084
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Coiled sperm flagella, Absent sperm fla... OMIM:620222
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Short sperm flagella, Irregularly shaped sper... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Short sperm flagella, Absent sperm flagella, Male infertility, Oligospermia OMIM:619102
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligospermia OMIM:620196
Spermatogenic Failure 42
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Mal... OMIM:618745
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Abnormal sperm tail morphology, Male infertility, Abnormal sperma... OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:619044
Spermatogenic Failure 16
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Reduced sperm motility, Male infertility OMIM:617644
Spermatogenic Failure 51
Macrocephalic sperm head, Microcephalic sperm head, Absent sperm axoneme central pair complex, Sh... OMIM:619177
Spermatogenic Failure 72
Reduced progressive sperm motility, Absent sperm axoneme central pair complex, Short sperm flagel... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618153
Spermatogenic Failure 37
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:619095
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella... OMIM:618152
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Coiled sperm flagella, Absent sperm flagella, Male inf... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:617592
Spermatogenic Failure 49
Short sperm flagella, Coiled sperm flagella, Absent sperm flagella, Male infertility, Reduced spe... OMIM:619144
Spermatogenic Failure 24
Microcephalic sperm head, Short sperm flagella, Coiled sperm flagella, Tapered sperm head, Reduce... OMIM:617959
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Spermatogenic Failure 5
Macrocephalic sperm head, Multiflagellar spermatozoa, Male infertility OMIM:243060
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Male infertility, Oligospermia OMIM:612997
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 63
Reduced progressive sperm motility, Decreased testicular size, Oligospermia, Male infertility OMIM:619689
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Coiled sperm flagella, Absent sp... OMIM:618341
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Male infertility, Short sperm flagella OMIM:617593
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm morphology, Decreased testicular size, Abnormal sperm tail morpho... ORPHA:399808
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Male infertility, Oligospermia OMIM:619828
Partial Chromosome Y Deletion
Decreased testicular size, Cryptorchidism, Non-obstructive azoospermia, Male infertility, Abnorma... ORPHA:1646
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 48
Azoospermia, Spermatogenesis maturation arrest, Oligospermia, Male infertility OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Non-obstruc... OMIM:617960
Spermatogenic Failure 38
Abnormal sperm head morphology, Abnormal axonemal organization of respiratory motile cilia, Oligo... OMIM:618433
Spermatogenic Failure 30
Cryptorchidism, Spermatogenesis maturation arrest, Cryptozoospermia, Azoospermia, Male infertility OMIM:618110
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619672
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
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 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Spermatogenic Failure 57
Non-obstructive azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male i... OMIM:619528
Spermatogenic Failure 50
Azoospermia, Decreased testicular size, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Isochromosomy Yp
Azoospermia, Decreased testicular size, Male infertility, Ambiguous genitalia ORPHA:98797
Spermatogenic Failure 3
Reduced sperm motility, Male infertility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Reduced sperm motility, Male infertility OMIM:400042
Spermatogenic Failure 55
Reduced sperm motility, Male infertility OMIM:619380
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Isochromosomy Yq
Decreased testicular size, Ambiguous genitalia, Varicocele, Azoospermia, Gonadal tissue inappropr... ORPHA:98798
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 77
Cryptorchidism, Azoospermia, Multiflagellar spermatozoa, Male infertility, Oligospermia OMIM:620103
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligospermia, Male infertility OMIM:108420
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure, X-Linked, 2
Azoospermia, Spermatogenesis maturation arrest, Testicular atrophy, Male infertility OMIM:309120
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, Abnormal ... ORPHA:488191
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Macroorchidism, Oligospermia, Precocious puberty ORPHA:3000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Decreased testicular size, Obstructive azoospermia, Non-obstructive azoospermia, Azoospermia, Abn... ORPHA:399805
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Obstructive azoospermia, Male infertility, Oligospermia ORPHA:48
Young Syndrome
Azoospermia OMIM:279000
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Obstructive azoospermia, Spermatocele OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Spermatogenic Failure 15
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:616950
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Abnormal sperm morphology, Decreased testicular size, Infertility... ORPHA:320391
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Spinocerebellar Ataxia 32
Infertility, Azoospermia, Testicular atrophy OMIM:613909
Ring Chromosome Y Syndrome
Perineal hypospadias, Cryptorchidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, m... ORPHA:261529
Isolated Follicle Stimulating Hormone Deficiency
Oligomenorrhea, Abnormal sperm morphology, Decreased testicular size, Testicular atrophy, Primary... ORPHA:52901
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Spermatogenic Failure 28
Non-obstructive azoospermia, Decreased testicular size, Male infertility OMIM:618086
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Male infertility, Short sperm flagella OMIM:620197
Schizophrenia 15
Hyperactivity OMIM:613950
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Male infertility OMIM:615842
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased testicular size, Hypogonadism, Primary amenorrhea, Infertility, Azoospermia OMIM:229070
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity, Chorioretinal degeneration OMIM:616311
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Large clu... OMIM:214450
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti... OMIM:617091
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Griscelli Syndrome, Type 3
White eyelashes, Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair OMIM:609227
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Neuroectodermal Melanolysosomal Disease
Aplasia/Hypoplasia of the macula, Ataxia, Premature graying of hair, Tremor, Hypopigmentation of ... ORPHA:33445
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Androgen Insensitivity, Partial
Perineal hypospadias, Cryptorchidism, Micropenis, Hypogonadism, Infertility, Azoospermia, Absent ... OMIM:312300
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Aggressive behavior, Large for gestational age ORPHA:356996
Premature Ovarian Failure 10
Premature ovarian insufficiency, Decreased testicular size, Hypoplasia of the ovary, Primary amen... OMIM:612885
Hydrocephalus-Obesity-Hypogonadism Syndrome
Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
Hemochromatosis, Type 2A
Infertility, Amenorrhea, Azoospermia, Hypogonadotropic hypogonadism OMIM:602390
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
47,Xyy Syndrome
Cryptorchidism, Micropenis, Varicocele, Azoospermia, Male infertility, Macroorchidism, Oligosperm... ORPHA:8
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Immotile sperm, Male infertility, Absent inner dynein arms OMIM:614874
Intellectual Developmental Disorder, X-Linked 104
Hyperactivity, Ataxia, Tremor, Frontal upsweep of hair, Optic atrophy, Aggressive behavior OMIM:300983
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Albinism, Oculocutaneous, Type Iii
Partial albinism, Red hair, Albinism OMIM:203290
Familial Hyperprolactinemia
Oligomenorrhea, Osteoporosis, Osteopenia, Infertility, Female hypogonadism, Menorrhagia, Amenorrhea ORPHA:397685
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia OMIM:606574
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism, Hypopigmentation of the fundus OMIM:606952
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Primary amenorrhea, Hypoplasia of the uter... OMIM:614837
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a... OMIM:613807
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Small nail, Tremor, Optic atrophy, Aggressive behavior, Elbow flexion contracture OMIM:619470
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation o... OMIM:126070
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Tietz Syndrome
White eyebrow, Hypopigmentation of the skin, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Woolly Hair
Sparse body hair, Abnormal retinal morphology, Fine hair, Brittle hair, Abnormality of hair textu... ORPHA:170
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Progressi... OMIM:607624
Hidrotic Ectodermal Dysplasia
Anonychia, Absent pubic hair, Absent axillary hair, Sparse axillary hair, Fine hair, Slow-growing... ORPHA:189
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Oligomenorrhea, Secondary amenorrhea, Abnormality of the Leydig cells, Micropenis, Testicular mic... OMIM:228300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Functioning Gonadotropic Adenoma
Decreased female libido, Isosexual precocious puberty, Infertility, Abnormality of the menstrual ... ORPHA:91348
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Coffin-Siris Syndrome 8
Long eyelashes, Inguinal hernia, Hyperactivity, Thick eyebrow, Failure to thrive, Self-injurious ... OMIM:618362
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Hypogonadism, Primary amenorrhea, Azoospermia OMIM:614897
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Pituitary Dermoid And Epidermoid Cysts
Oligomenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:91351
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of the skin, Hypopigmen... OMIM:619165
Maternal Uniparental Disomy Of Chromosome X
Azoospermia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous ge... ORPHA:261519
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Lead Poisoning
Abnormal sperm morphology, Decreased male libido, Decreased female libido, Infertility, Abnormali... ORPHA:330015
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Iris hypopigmentation, Hyperactivity, Ataxia, Hypopigmentation of the skin, Hypopigme... ORPHA:411515
Morm Syndrome
Hyperactivity, Retinal atrophy, Truncal obesity, Aggressive behavior, Retinal dystrophy ORPHA:75858
Hartnup Disorder
Emotional lability, Episodic ataxia, Attention deficit hyperactivity disorder, Hyperactivity OMIM:234500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Partial Androgen Insensitivity Syndrome
Perineal hypospadias, Micropenis, Ambiguous genitalia, Primary amenorrhea, Fused labia majora, Cl... ORPHA:90797
Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Cryptorchidism, Abnormal morphology of female internal ... ORPHA:754
Classic Phenylketonuria
Motor deterioration, Attention deficit hyperactivity disorder, Memory impairment, Tremor, Mental ... ORPHA:79254
Ciliary Dyskinesia, Primary, 22
Infertility, Reduced sperm motility, Absent inner and outer dynein arms OMIM:615444
Encephalopathy, Progressive, With Or Without Lipodystrophy
Hyperactivity, Ataxia, Tremor, Mental deterioration, Dystonia OMIM:615924
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Van Buchem Disease
Optic atrophy from cranial nerve compression, Increased bone mineral density, Thickened cortex of... OMIM:239100
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albinism, Freckles in sun-e... OMIM:203200
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Reduced b... ORPHA:891
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Anxiety, Aggressive behavior, Hyperactivity OMIM:619031
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair, Athetosis OMIM:257800
Waardenburg Syndrome, Type 2F
Blue irides, Hypermelanotic macule, Premature graying of hair, Cafe-au-lait spot, White hair, Hyp... OMIM:619947
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Athetosis, Self-injurious behavior, Chorea, Aggressive behavior, Dystonia ORPHA:382
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Smith-Magenis syndrome
Self-mutilation, Hyperactivity DECIPHER:8
Juvenile Huntington Disease
Hyperactivity, Progressive cerebellar ataxia, Ataxia, Dementia, Irritability, Chorea, Gait ataxia... ORPHA:248111
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Abnormal retinal morphology, Albinism ORPHA:2786
46,Xx Sex Reversal 1
Clitoral hypertrophy, Azoospermia, Ovotestis, Bicornuate uterus, True hermaphroditism, Sex revers... OMIM:400045
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Phenylketonuria
Blue irides, Self-mutilation, Hyperactivity, Generalized hypopigmentation, Anxiety, Attention def... OMIM:261600
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Generalized Glucocorticoid Resistance Syndrome
Oligomenorrhea, Ambiguous genitalia, Infertility, Female pseudohermaphroditism, Oligospermia, Pre... ORPHA:786
46,Xx Sex Reversal 2
Perineal hypospadias, Micropenis, Hypoplasia of the vagina, Hypoplasia of the uterus, Azoospermia... OMIM:278850
Obesity Due To Prohormone Convertase I Deficiency
Polyphagia, Failure to thrive, Hypopigmentation of the skin, Red hair, Increased adipose tissue, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Failure to thrive, Hypopigmentation of the skin, Red hair, Increased adipose tissue, ... ORPHA:71526
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism ORPHA:280679
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Severe Neurodegenerative Syndrome With Lipodystrophy
Limb dystonia, Hyperactivity, Ataxia, Generalized lipodystrophy, Cognitive impairment, Reduced in... ORPHA:363400
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Uncombable Hair Syndrome
Patchy alopecia, White hair, Coarse hair, Woolly hair, Abnormal hair morphology, Trichodysplasia ORPHA:1410
Vogt-Koyanagi-Harada Disease
Abnormal eyelash morphology, Vitiligo, Abnormal eyebrow morphology, Hypopigmented skin patches, P... ORPHA:3437
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Hyperlysinemia, Type I
Cognitive impairment, Hyperactivity OMIM:238700
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Melanin pigment aggregation in hair shafts, Ataxia, H... OMIM:256710
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Hyperactivity, Ataxia, Tremor, Aggressive behavior, Choreoathetosis, Dystonia OMIM:612716
Waardenburg-Shah Syndrome
Abnormal macular morphology, Abnormal eyebrow morphology, Synophrys, Premature graying of hair, A... ORPHA:897
Glycine Encephalopathy 1
Hyperactivity, Restlessness, Irritability, Aggressive behavior, Impulsivity OMIM:605899
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Testicular atrophy, Micropenis, Azoospermia, Small scr... OMIM:308700
Alazami-Yuan Syndrome
Long eyelashes, Hyperactivity, Synophrys, Low anterior hairline, Thick eyebrow, Highly arched eye... OMIM:617126
Chromosome 3Q29 Deletion Syndrome
Small for gestational age, Hyperactivity, Anxiety, Failure to thrive, Gait ataxia, Aggressive beh... OMIM:609425
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyelash morphology, Hypopigmented skin patches, Abnormal ey... ORPHA:2885
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypoplasia of the ovary, Cryptorchidism, Decreased testicular size, Micropenis, Primary amenorrhe... ORPHA:432
49,Xyyyy Syndrome
Decreased testicular size, External genital hypoplasia, Abnormality of the testis size, Azoosperm... ORPHA:99330
Hemochromatosis, Type 1
Testicular atrophy, Azoospermia, Impotence, Hypogonadotropic hypogonadism, Amenorrhea OMIM:235200
Griscelli Syndrome Type 1
Iris hypopigmentation, Ataxia, Premature graying of hair, White hair, Partial albinism, Retinopathy ORPHA:79476
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Primary amenorrhea, Abnormal internal genitalia, Testicular gonadoblastoma, ... ORPHA:251510
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Impulsivity OMIM:617113
Hyperprolinemia, Type I
Aggressive behavior, Hyperactivity, Ataxia OMIM:239500
Obesity And Hypopigmentation
Polyphagia, Red hair, Obesity OMIM:620195
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Hereditary Amyloidosis With Primary Renal Involvement
Hypogonadism, Primary testicular failure, Male infertility, Abnormal testis morphology, Oligospermia ORPHA:85450
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Irritability, Abnormal aggressive, impulsi... ORPHA:3077
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
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
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Ataxia, Progressive neurologic deterioration, Generalized dystonia, Failure to thrive, Dysphagia,... ORPHA:70472
Gapo Syndrome
Dysmenorrhea, Oligospermia, Amenorrhea, Hypogonadism ORPHA:2067
Oculocutaneous Albinism Type 3
Blue irides, Freckling, Iris hypopigmentation, Optic nerve misrouting, White eyelashes, Hypopigme... ORPHA:79433
Ataxia-Telangiectasia
Ataxia, Premature graying of hair, Cognitive impairment, Failure to thrive, Tremor, Multiple cafe... ORPHA:100
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Obesity ORPHA:177910
Landau-Kleffner Syndrome
Emotional lability, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Memory impa... ORPHA:98818
Oculocutaneous Albinism Type 1
Depigmented fundus, Hypoplasia of the fovea, Blue irides, Iris hypopigmentation, Generalized hypo... ORPHA:352731
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Hyperactivity, Chorea, Dysphagia, Gait ataxia, Aggressive behavior, Dyst... ORPHA:500180
Hypotrichosis 8
Nail pits, Ridged nail, Sparse axillary hair, Coarse hair, Woolly hair, Sparse eyebrow, Fair hair... OMIM:278150
Complete Androgen Insensitivity Syndrome
Aplasia/Hypoplasia of the fallopian tube, Abnormal morphology of female internal genitalia, Prima... ORPHA:99429
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Anxiety, Thick eyebrow, Highly arched eyebrow, Sparse eyebrow OMIM:300979
Waardenburg Syndrome, Type 4A
Blue irides, Ataxia, Hypopigmented skin patches, Premature graying of hair, White eyelashes, Whit... OMIM:277580
Waardenburg Syndrome, Type 2A
Synophrys, Premature graying of hair, Albinism, Numerous pigmented freckles, White eyelashes, Par... OMIM:193510
Waardenburg Syndrome, Type 4B
Blue irides, Hypopigmented skin patches, Premature graying of hair, White eyelashes, White eyebro... OMIM:613265
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Hyperactivity, Nail-biting, Attention deficit hyperactivity disorder, Memory impairment, Self-inj... OMIM:619827
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, White forelock, ... ORPHA:895
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Clitoral hypoplasia, Oligospermia OMIM:614813
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Classic Galactosemia
Oligomenorrhea, Premature ovarian insufficiency, Decreased fertility in females, Cryptorchidism, ... ORPHA:79239
Ermine Phenotype
Vitiligo, Spotty hyperpigmentation, Albinism, White hair, White eyelashes, White eyebrow OMIM:227010
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Piebaldism
Ataxia, Piebaldism, Synophrys, Hypopigmented skin patches, White eyelashes, Hypopigmentation of h... ORPHA:2884
Woolly Hair Nevus
Woolly scalp hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Curl... ORPHA:79414
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased testicular size, Cryptorchidism, Penoscrotal hypospadias, Ambiguous genitalia, male, Cl... ORPHA:90791
Oculocutaneous Albinism
Hypoplasia of the fovea, Iris hypopigmentation, Hypopigmentation of the fundus, Generalized hypop... ORPHA:55
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Abnormal eating behavior, Iris hypopigmentation, Hyperactivity, Ataxia, Tremor, Dysphagia, Hypopi... ORPHA:98794
Mucopolysaccharidosis, Type Iiic
Hyperactivity, Synophrys, Motor deterioration, Dysphagia, Coarse hair, Hirsutism, Hernia, Hypertr... OMIM:252930
Intellectual Developmental Disorder, Autosomal Dominant 43
Hyperactivity, Ataxia, Synophrys, Umbilical hernia, Anxiety, Failure to thrive, Hirsutism, Aggres... OMIM:616977
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Azoospermia, Decreased testicular size, Hypergonadotropic hypogonadism OMIM:300845
Angelman Syndrome Due To A Point Mutation
Abnormal eating behavior, Iris hypopigmentation, Ataxia, Dysphagia, Hypopigmentation of the skin,... ORPHA:411511
Waardenburg Syndrome Type 1
Hypopigmented skin patches, Synophrys, Premature graying of hair, Abnormal hair morphology, Thick... ORPHA:894
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Micropenis, Primary amenorrhea, Ambiguous genitalia, male, Precocious puberty in females, Female ... ORPHA:90793
Neurodegeneration With Brain Iron Accumulation 2B
Emotional lability, Hyperactivity, Dysdiadochokinesis, Dysphagia, Mental deterioration, Intention... OMIM:610217
2Q23.1 Microdeletion Syndrome
Polyphagia, Hyperactivity, Ataxia, Synophrys, Self-injurious behavior, Highly arched eyebrow, Gen... ORPHA:228402
Cln5 Disease
Hyperactivity, Ataxia, Anxiety, Dysdiadochokinesis, Tremor, Mental deterioration, Aggressive beha... ORPHA:228360
Acrodysostosis 2 With Or Without Hormone Resistance
Blue irides, Hyperactivity, Red hair, Fair hair, Obesity OMIM:614613
Bloom Syndrome
Azoospermia, Premature ovarian insufficiency, Oligospermia, Male infertility ORPHA:125
Infantile Neuroaxonal Dystrophy
Emotional lability, Hyperactivity, Ataxia, Choking episodes, Mental deterioration, Flexion contra... ORPHA:35069
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, Abnormal internal genitalia, Streak ovary, Bilateral cryptorchidism, Male in... ORPHA:1772
Squalene Synthase Deficiency
Failure to thrive in infancy, Knee flexion contracture, Irritability, Optic nerve hypoplasia, Abn... OMIM:618156
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Hyperactivity, Aggressive behavior, Choreoathetosis OMIM:620023
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Aromatase Deficiency
Cryptorchidism, Primary amenorrhea, Hypergonadotropic hypogonadism, Female infertility, Male infe... ORPHA:91
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Hyperactivity, Anxiety, Aggressive behavior, Impulsivity ORPHA:101039
8P11.2 Deletion Syndrome
Cryptorchidism, Hypogonadism, Hypoplasia of penis, Azoospermia, Hypogonadotropic hypogonadism ORPHA:251066
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Hypopigmentation of hair, Generalized hirsutism, Weight loss ORPHA:2221
Graves Disease, Susceptibility To, 1
Polyphagia, Hyperactivity, Onycholysis, Irritability, Weight loss OMIM:275000
Intellectual Developmental Disorder, Autosomal Recessive 38
Blue irides, Self-mutilation, Aggressive behavior, Hyperactivity OMIM:615516
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Hypopigmentation of the skin... ORPHA:79431
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
X-Linked Creatine Transporter Deficiency
Self-mutilation, Hyperactivity, Ataxia, Cachexia, Athetosis, Chorea, Dystonia ORPHA:52503
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Synophrys, Progressive neurologic deterioration, Coarse hair, Hirsutism, Aggressiv... OMIM:252920
Angelman Syndrome
Blue irides, Hyperactivity, Ataxia, Limb tremor, Progressive gait ataxia, Hypopigmentation of the... OMIM:105830
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Familial Glucocorticoid Deficiency
Testicular adrenal rest tumor, Cryptorchidism, Leydig cell neoplasia, Azoospermia, Precocious pub... ORPHA:361
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Hypopigmentation of hair, Albinism OMIM:614072
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Increased size of the clitoris, Cryptorchidism, Micropenis, Ambiguous genitalia, Primary amenorrh... ORPHA:95699
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Angelman Syndrome
Polyphagia, Iris hypopigmentation, Hyperactivity, Ataxia, Anxiety, Optic disc pallor, Tremor, Sel... ORPHA:72
Insensitivity To Pain, Congenital, With Anhidrosis
Emotional lability, Self-mutilation, Nail dysplasia, Hyperactivity, Corneal scarring, Pain insens... OMIM:256800
Insulin-Like Growth Factor I Deficiency
Hyperactivity, Osteopenia OMIM:608747
Carney Complex
Testicular adrenal rest tumor, Abnormal morphology of female internal genitalia, Abnormal sperm m... ORPHA:1359
Mucopolysaccharidosis, Type Iiia
Inguinal hernia, Hyperactivity, Synophrys, Umbilical hernia, Coarse hair, Hirsutism OMIM:252900
Cntnap2-Related Developmental And Epileptic Encephalopathy
Self-mutilation, Hyperactivity, Ataxia, Progressive language deterioration, Mental deterioration,... ORPHA:163681
Albinism, Oculocutaneous, Type Ia
Blue irides, Hypoplasia of the fovea, Albinism, White hair, Hypopigmentation of hair, Ocular albi... OMIM:203100
X-Linked Adrenoleukodystrophy
Somatic sensory dysfunction, Hyperactivity, Disinhibition, Cognitive impairment, Attention defici... ORPHA:43
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Chorea OMIM:617600
Ermine Phenotype
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Hypopigmentation ... ORPHA:999
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Epididymal cyst, Atretic vas deferens, Bicornuate uterus, Reduced sperm... OMIM:137920
Hoyeraal-Hreidarsson Syndrome
Ataxia, Premature graying of hair, Failure to thrive, Nail dystrophy, Generalized hypopigmentatio... ORPHA:3322
Chediak-Higashi Syndrome
Iris hypopigmentation, Ataxia, Giant melanosomes in melanocytes, Tremor, Hypopigmentation of the ... OMIM:214500
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Attention deficit hyperactivity disorder, Progressive language deteriorati... OMIM:610042
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the male genitalia, Abnormality of the female genitalia ORPHA:228123
Magel2-Related Prader-Willi-Like Syndrome
Polyphagia, Impaired temperature sensation, Chorioretinal hypopigmentation, Cognitive impairment,... ORPHA:398069
Neurodegeneration With Brain Iron Accumulation 1
Hyperactivity, Ataxia, Blepharospasm, Pigmentary retinopathy, Dementia, Retinal degeneration, Tre... OMIM:234200
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79477
Developmental And Epileptic Encephalopathy 49
Long eyelashes, Hyperactivity, Anxiety, Thick eyebrow, Exaggerated startle response, Optic atrophy OMIM:617281
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Irregular hyperpigmentation, Trichorrhexis nodosa, Cognitive impairment, ... ORPHA:238468
Diphallia
Rectoperineal fistula, Cryptorchidism, Bifid penis, Penoscrotal transposition, Epispadias, Bifid ... ORPHA:227
Sim1-Related Prader-Willi-Like Syndrome
Polyphagia, Impaired temperature sensation, Chorioretinal hypopigmentation, Failure to thrive, Hy... ORPHA:398079
Fanconi Anemia, Complementation Group A
Cryptorchidism, Male infertility, Hypergonadotropic hypogonadism OMIM:227650
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia, Red hair, Obesity OMIM:609734
Tetrasomy 9P
Polymicrogyria, Cryptorchidism, Micropenis, Infertility, Pachygyria, Lissencephaly, Oligospermia ORPHA:3310
Waardenburg Syndrome
Abnormal eyebrow morphology, Synophrys, Premature graying of hair, Hypopigmented skin patches, Hy... ORPHA:3440
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmentation ORPHA:98795
Hermansky-Pudlak Syndrome 1
Freckling, Freckles in sun-exposed areas, Albinism, Hypopigmentation of the skin, Hypopigmentatio... OMIM:203300
Joubert Syndrome 1
Self-mutilation, Hyperactivity, Ataxia, Optic disc pallor, Highly arched eyebrow, Chorioretinal c... OMIM:213300
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Inguinal hernia, Ataxia, Choroideremia, Athetosis, Hypopigmentation of hai... ORPHA:2719
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Polyphagia, Small for gestational age, Iris hypopigmentation, Failure to thrive, Self-injurious b... ORPHA:98754
Brittle Cornea Syndrome
Camptodactyly, Corneal scarring, Retinal detachment, Hernia, Abnormality of hair pigmentation ORPHA:90354
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Polyphagia, Small for gestational age, Iris hypopigmentation, Failure to thrive, Self-injurious b... ORPHA:98793
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Polyphagia, Small for gestational age, Iris hypopigmentation, Failure to thrive, Self-injurious b... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Polyphagia, Small for gestational age, Iris hypopigmentation, Failure to thrive, Self-injurious b... ORPHA:177901
Carney Complex, Type 1
Multiple lentigines, Freckling, Red hair, Hirsutism, Profuse pigmented skin lesions OMIM:160980
Prader-Willi Syndrome
Polyphagia, Impaired pain sensation, Iris hypopigmentation, Generalized hypopigmentation, Failure... OMIM:176270
Muenke Syndrome
Hypermelanotic macule, Hypopigmentation of hair, Hypopigmented skin patches ORPHA:53271
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Hypopigmentation of hair, Cafe-au-lait spot OMIM:618541
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Freckling, Iris hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait spots, Hypopi... ORPHA:3214
Prader-Willi-Like Syndrome
Polyphagia, Small for gestational age, Iris hypopigmentation, Failure to thrive, Self-injurious b... ORPHA:398073
Chédiak-Higashi Syndrome
Iris hypopigmentation, Somatic sensory dysfunction, Ataxia, Cognitive impairment, Spotty hyperpig... ORPHA:167
Hermansky-Pudlak Syndrome
Long eyelashes, Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Oc... ORPHA:79430
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hyperactivity, Hand tremor, Agitation, Weight loss ORPHA:424
Prader-Willi Syndrome Due To Translocation
Head-banging, Iris hypopigmentation, Stellate iris, Anxiety, Attention deficit hyperactivity diso... ORPHA:177907
Microcephaly 29, Primary, Autosomal Recessive
Emotional lability, Hyperactivity, Thick eyebrow, Ataxia OMIM:620047
Familial Gestational Hyperthyroidism
Agitation, Hyperactivity, Hand tremor, Weight loss ORPHA:99819
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Overfriendliness, Abnormality of hai... ORPHA:96169
Vici Syndrome
Macular atrophy, Hypopigmentation of the fundus, Albinism, Failure to thrive, Dysphagia, Hypopigm... OMIM:242840
Legius Syndrome
Hyperactivity, Axillary freckling, Cognitive impairment, Attention deficit hyperactivity disorder... ORPHA:137605
Choreoacanthocytosis
Mental deterioration, Laryngeal dystonia, Bradyphrenia, Head-banging, Emotional lability, Limb dy... ORPHA:2388
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Ataxia, Hypopigmented skin patches, Abnormal eyebrow morphology, Premature graying of hair, Hypop... ORPHA:163746
Prader-Willi Syndrome
Polyphagia, Impaired temperature sensation, Attention deficit hyperactivity disorder, Failure to ... ORPHA:739
Hereditary Sensory And Autonomic Neuropathy Type 4
Aplasia of the sweat glands, Self-mutilation, Distal sensory impairment, Abnormal emotion/affect ... ORPHA:642
Syndromic Diarrhea
Small for gestational age, Inguinal hernia, Trichorrhexis nodosa, Uncombable hair, Generalized hy... ORPHA:84064
Cystic Fibrosis
Male infertility OMIM:219700
Menkes Disease
Chondrocalcinosis, Inguinal hernia, Umbilical hernia, Chorea, Hypopigmentation of hair, Woolly ha... ORPHA:565
Cystinosis, Nephropathic
Pigmentary retinopathy, Failure to thrive in infancy, Retinal pigment epithelial mottling, Progre... OMIM:219800
Histidinemia
Hyperactivity ORPHA:2157
Degcags Syndrome
Small for gestational age, Long eyelashes, Abnormal eyelash morphology, Abnormal eyebrow morpholo... OMIM:619488
Smith-Lemli-Opitz Syndrome
Abnormal eyelash morphology, Attention deficit hyperactivity disorder, Self-injurious behavior, H... ORPHA:818
Obsolete: Acrodysostosis With Multiple Hormone Resistance
Blue irides, Hyperactivity, Red hair, Fair hair, Obesity ORPHA:280651
Noonan Syndrome 1
Cryptorchidism, Male infertility, Hypogonadism, Hypospadias OMIM:163950
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Widow's peak, Dry hair ORPHA:1974
Alström Syndrome
Decreased testicular size, Micropenis, Polycystic ovaries, Precocious puberty in females, Testicu... ORPHA:64
Limited Cutaneous Systemic Sclerosis
Hypopigmented skin patches, Dysphagia, Foot joint contracture, Joint contracture of the hand, Abn... ORPHA:220402

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for AU040320

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 AU040320.

There are 2 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice. Scientific reports (July 2018) AU040320tm1b(EUCOMM)Wtsi PMC6039479
Knockout Mice for Dyslexia Susceptibility Gene Homologs KIAA0319 and KIAA0319L have Unaffected Neuronal Migration but Display Abnormal Auditory Processing. Cerebral cortex (New York, N.Y. : 1991) (December 2017) AU040320tm1c(EUCOMM)Wtsi AU040320tm1a(EUCOMM)Wtsi AU040320tm1d(EUCOMM)Wtsi AU040320tm1b(EUCOMM)Wtsi PMC5939205

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MGI Allele Allele Type Produced
AU040320em1(IMPC)J Exon Deletion Mice
AU040320tm497(L1L2_gt1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
AU040320tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
AU040320tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
AU040320tm497(L1L2_st1) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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