Gene Summary

Name:
expressed sequence AU040320
Synonyms:
N/A

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
decreased bone mineral content AU040320em1(IMPC)J HOM Early adult 4.80×10-06
decreased lean body mass AU040320em1(IMPC)J HOM Late adult 3.95×10-05
hyperactivity AU040320em1(IMPC)J HOM Early adult 3.74×10-07
absent vibrissae AU040320em1(IMPC)J HOM   Late adult 2.09×10-05
decreased bone mineral density AU040320em1(IMPC)J HOM Early adult 3.27×10-05
male infertility AU040320em1(IMPC)J HOM Early adult 0.00
increased exploration in new environment AU040320em1(IMPC)J HOM   Late adult 6.62×10-08
decreased erythrocyte cell number AU040320em1(IMPC)J HOM Late adult 9.93×10-05
decreased grip strength AU040320em1(IMPC)J HOM Late adult 9.63×10-10
hyperactivity AU040320em1(IMPC)J HOM Late adult 8.92×10-09
abnormal retina morphology AU040320em1(IMPC)J HOM Early adult 1.88×10-07
abnormal coat/hair pigmentation AU040320em1(IMPC)J HOM Late adult 3.35×10-05
abnormal retina morphology AU040320em1(IMPC)J HOM Late adult 6.39×10-12
impaired righting response AU040320em1(IMPC)J HOM Late adult 7.88×10-07
limb grasping AU040320em1(IMPC)J HOM Late adult 2.49×10-07
increased total body fat amount AU040320em1(IMPC)J HOM Late adult 2.95×10-05
decreased hemoglobin content AU040320em1(IMPC)J HOM Late adult 9.44×10-05

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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.

Eye Morphology

Images Ophthalmoscopy

14 Images

Electrocardiogram (ECG)

Waveform Image

18 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Forepaw

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Skull Lateral Orientation

10 Images

Auditory Brain Stem Response

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

8 Images

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
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches, Foot... ORPHA:220402

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 54
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... OMIM:619379
Spermatogenic Failure 11
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 65
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619712
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... ORPHA:529970
Spermatogenic Failure 39
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... OMIM:618643
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility OMIM:619696
Spermatogenic Failure 56
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... OMIM:619515
Spermatogenic Failure 41
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head OMIM:618670
Spermatogenic Failure, X-Linked, 3
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... OMIM:301059
Spermatogenic Failure 40
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... OMIM:618664
Spermatogenic Failure 58
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... OMIM:619585
Spermatogenic Failure 47
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella OMIM:619102
Spermatogenic Failure 42
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... OMIM:618745
Deafness-Infertility Syndrome
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... OMIM:611102
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 51
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... OMIM:619177
Spermatogenic Failure 72
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... OMIM:619867
Spermatogenic Failure 46
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... OMIM:619095
Spermatogenic Failure 43
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... OMIM:618751
Spermatogenic Failure 49
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619144
Spermatogenic Failure 45
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... OMIM:619094
Spermatogenic Failure 24
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... OMIM:617959
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 5
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Immotile sperm, Abnormal sperm morphology OMIM:608653
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 7
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility OMIM:612997
Spermatogenic Failure 63
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility OMIM:619689
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 20
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:617593
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... ORPHA:399808
Spermatogenic Failure 18
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617576
Spermatogenic Failure 19
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:618153
Spermatogenic Failure 70
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility OMIM:619828
Partial Chromosome Y Deletion
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... ORPHA:1646
Spermatogenic Failure 1
Cryptozoospermia, Oligospermia, Male infertility OMIM:258150
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility OMIM:619108
Spermatogenic Failure 38
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... OMIM:618433
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
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, Male infertility, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 57
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Isochromosomy Yp
Ambiguous genitalia, Male infertility, Azoospermia, Decreased testicular size ORPHA:98797
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 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Isochromosomy Yq
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Azoospermia, Gonada... ORPHA:98798
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 2
Non-obstructive azoospermia, Oligospermia, Azoospermia, Male infertility OMIM:108420
Familial Male-Limited Precocious Puberty
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism ORPHA:3000
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 75
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest OMIM:619949
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, Ob... ORPHA:399805
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility ORPHA:48
Spermatogenic Failure, X-Linked, 2
Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Obstructive azoospermia, Male infertility OMIM:301060
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Morbid Obesity And Spermatogenic Failure
Infertility, Oligospermia, Azoospermia OMIM:615703
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility OMIM:261550
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 15
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest OMIM:616950
Autosomal Recessive Spastic Paraplegia Type 46
Infertility, Reduced sperm motility, Decreased testicular size, Abnormal sperm head morphology, A... ORPHA:320391
Spinocerebellar Ataxia Type 32
Azoospermia, Testicular atrophy, Male infertility ORPHA:276183
Isolated Follicle Stimulating Hormone Deficiency
Testicular atrophy, Delayed menarche, Hypogonadotropic hypogonadism, Primary amenorrhea, Oligomen... ORPHA:52901
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... ORPHA:261529
Hemoglobin D Disease
Decreased mean corpuscular volume, Abnormal hemoglobin, HbS hemoglobin, Splenomegaly, Reduced alp... ORPHA:90039
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Osteomesopyknosis
Infertility, Increased bone mineral density OMIM:166450
Hyperlysinemia, Type I
Anemia, Hyperactivity, Cognitive impairment OMIM:238700
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Intellectual Developmental Disorder, Autosomal Dominant 33
Chorioretinal degeneration, Hyperactivity OMIM:616311
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Male infertility, Absent vas deferens OMIM:277180
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia OMIM:229070
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Spermatogenic Failure 28
Azoospermia, Decreased testicular size OMIM:618086
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Spermatogenic Failure, X-Linked, 4
Azoospermia, Male infertility OMIM:301077
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Decrease... OMIM:614837
Immunodeficiency 8
Hyperactivity OMIM:615401
Insulin-Like Growth Factor I Deficiency
Osteopenia, Hyperactivity OMIM:608747
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Griscelli Syndrome, Type 1
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White... OMIM:214450
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Neuroectodermal Melanolysosomal Disease
Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Optic atrophy, Tremor, Generalize... ORPHA:33445
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age, Hyperactivity, Aggressive behavior ORPHA:356996
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hemophagocytosis, Hypopigmentation of the skin, Hepat... OMIM:607624
Adrenal Hypoplasia, Congenital
Precocious puberty, Hypogonadotropic hypogonadism, Oligospermia, Azoospermia, Cryptorchidism OMIM:300200
Ciliary Dyskinesia, Primary, 12
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... OMIM:612650
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Ciliary Dyskinesia, Primary, 11
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility OMIM:612649
47,Xyy Syndrome
Micropenis, Hypospadias, Oligospermia, Varicocele, Male infertility, Azoospermia, Cryptorchidism,... ORPHA:8
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Androgen Insensitivity, Partial
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... OMIM:312300
Premature Ovarian Failure 10
Hypoplasia of the ovary, Primary amenorrhea, Decreased testicular size, Azoospermia, Premature ov... OMIM:612885
Familial Hyperprolactinemia
Amenorrhea, Infertility, Osteopenia, Oligomenorrhea, Menorrhagia, Osteoporosis, Female hypogonadism ORPHA:397685
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Ciliary Dyskinesia, Primary, 26
Infertility, Absent outer dynein arms, Reduced sperm motility OMIM:615500
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... OMIM:613807
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Hypogonadism OMIM:240950
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
Congenital Amegakaryocytic Thrombocytopenia
Melanocytic nevus, Abnormal hemoglobin, Anemia, Thrombocytopenia ORPHA:3319
Intellectual Developmental Disorder, X-Linked 104
Ataxia, Hyperactivity, Frontal upsweep of hair, Optic atrophy, Tremor, Aggressive behavior OMIM:300983
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Functioning Gonadotropic Adenoma
Amenorrhea, Infertility, Impotence, Ovarian cyst, Oligospermia, Abnormality of the menstrual cycl... ORPHA:91348
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Morm Syndrome
Hyperactivity, Retinal atrophy, Retinal dystrophy ORPHA:75858
Ciliary Dyskinesia, Primary, 15
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm OMIM:613808
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Hypopigmentation of the fundus OMIM:606952
Pituitary Dermoid And Epidermoid Cysts
Amenorrhea, Oligomenorrhea, Oligospermia, Hypogonadism ORPHA:91351
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Optic atrophy, Tremor, Elbow flexion contracture, Aggressive behavior, Small nail OMIM:619470
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair, Neutropenia ORPHA:90023
Hidrotic Ectodermal Dysplasia
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Absent eyebrow, Sparse eyelashes, Spars... ORPHA:189
Tietz Syndrome
Hypopigmentation of the skin, White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmen... ORPHA:42665
Lead Poisoning
Infertility, Decreased male libido, Reduced sperm motility, Oligospermia, Abnormality of the mens... ORPHA:330015
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Micropenis, Ovarian cyst, Abnormality of the Leydig cells, Hypogonadot... OMIM:228300
Dilution, Pigmentary
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Woolly Hair
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... ORPHA:170
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul... ORPHA:754
Ciliary Dyskinesia, Primary, 22
Infertility, Absent inner and outer dynein arms, Reduced sperm motility OMIM:615444
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Micropenis, Primary amenorrhea, Decreased testicular size, Hypogonadism, Azoospermia, Cryptorchidism OMIM:614897
Partial Androgen Insensitivity Syndrome
Urogenital sinus anomaly, Blind vagina, Micropenis, Bifid scrotum, Hypospadias, Perineal hypospad... ORPHA:90797
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal hemoglobin, Thrombocytopenia, Splenomegaly ORPHA:231393
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Coffin-Siris Syndrome 8
Sparse scalp hair, Failure to thrive, Self-injurious behavior, Thick eyebrow, Hyperactivity, Long... OMIM:618362
Urocanase Deficiency
Ataxia, Fair hair, Blue irides, Tremor, Aggressive behavior OMIM:276880
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Hemolytic anemia, HbH hemoglobin, Splenomegaly OMIM:613978
Hemoglobin E Disease
Hypochromia, Anemia of inadequate production, Abnormal hemoglobin, Decreased mean corpuscular vol... ORPHA:2133
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Van Buchem Disease
Optic atrophy from cranial nerve compression, Thickened cortex of long bones, Cranial hyperostosi... OMIM:239100
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Beta-Thalassemia, Dominant Inclusion Body Type
Splenomegaly, Persistence of hemoglobin F, Erythrocyte inclusion bodies, Microcytic anemia, Decre... OMIM:603902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Myotonic Dystrophy 2
Oligospermia, Hypogonadism OMIM:602668
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Reduced bone mineral density, Peripheral ... ORPHA:891
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasi... OMIM:619165
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly ORPHA:46532
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus OMIM:601076
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia ORPHA:1445
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Generalized Glucocorticoid Resistance Syndrome
Infertility, Precocious puberty, Oligomenorrhea, Oligospermia, Ambiguous genitalia, Female pseudo... ORPHA:786
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Hyperactivity, Mental deterioration, Tremor, Dystonia OMIM:615924
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Happy demeanor, Ataxia, Hyperactivity, Hypopigmentation of the skin, Hypopigmentation of hair, Ir... ORPHA:411515
Classic Phenylketonuria
Self-injurious behavior, Hypopigmentation of the skin, Mental deterioration, Hypopigmentation of ... ORPHA:79254
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Hyperactivity OMIM:300928
Phenylketonuria
Fair hair, Blue irides, Hyperactivity, Self-mutilation, Generalized hypopigmentation, Anxiety, At... OMIM:261600
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Hyperactivity, Small for gestational age ORPHA:85288
Alpha-Thalassemia
Abnormal hemoglobin, Splenomegaly, Cognitive impairment, Hemolytic anemia, Microcytic anemia, Ane... ORPHA:846
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Albinism, Oculocutaneous, Type Ii
Blue irides, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea, Fre... OMIM:203200
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Microcytic anemia, Abnormal hemoglobin, Splenomegaly ORPHA:231242
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, Hypospadias, Ovotestis, Clitoral hypertrophy, True hermaphroditi... OMIM:400045
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal retinal morphology ORPHA:2786
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Smith-Magenis syndrome
Hyperactivity, Self-mutilation DECIPHER:8
Juvenile Huntington Disease
Ataxia, Progressive cerebellar ataxia, Hyperactivity, Chorea, Gait ataxia, Weight loss, Dystonia,... ORPHA:248111
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the uterus, Micropenis, Bifid scrotum, Hypoplasia of the vagina, Ovot... OMIM:278850
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Anxiety, Self-injurious behavior, Aggressive behavior OMIM:619031
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, Blue irides, Hypopigmentation of the skin, Heterochromia iridis, Cafe-au-l... OMIM:619947
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Guanidinoacetate Methyltransferase Deficiency
Ataxia, Self-injurious behavior, Hyperactivity, Chorea, Athetosis, Aggressive behavior, Dystonia ORPHA:382
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia, Decreased testicular size ORPHA:280679
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Ataxia, Generalized hirsutism, Reduced intraabdominal adipos... ORPHA:363400
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Alazami-Yuan Syndrome
Hirsutism, Low anterior hairline, Thick eyebrow, Hyperactivity, Long eyelashes, Synophrys, Highly... OMIM:617126
46,Xy Partial Gonadal Dysgenesis
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... ORPHA:251510
Melorheostosis, Isolated
Increased bone mineral density, Hyperostosis OMIM:155950
Ataxia-Telangiectasia
Failure to thrive, Ataxia, Premature graying of hair, Lymphopenia, Cognitive impairment, Hypopigm... ORPHA:100
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Exudative Vitreoretinopathy 1
Recurrent fractures, Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachm... OMIM:133780
Hereditary Amyloidosis With Primary Renal Involvement
Oligospermia, Male infertility, Hypogonadism, Abnormal testis morphology, Primary testicular failure ORPHA:85450
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Chromosome 3Q29 Deletion Syndrome
Failure to thrive, Hyperactivity, Small for gestational age, Anxiety, Gait ataxia, Aggressive beh... OMIM:609425
Gapo Syndrome
Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism ORPHA:2067
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Impotence, Cryptorchidism, Hypoplasia of the o... ORPHA:432
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Abnormality of retinal pigmentation, Abnormal macular morphology, Hy... ORPHA:897
Vogt-Koyanagi-Harada Disease
Sparse scalp hair, Abnormal eyebrow morphology, Cognitive impairment, Poliosis, Retinal detachmen... ORPHA:3437
Hemochromatosis, Type 1
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Azoospermia OMIM:235200
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Testicular atrophy, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size, Azoospe... OMIM:308700
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Hyperactivity, Tremor, Choreoathetosis, Aggressive behavior, Dystonia OMIM:612716
Elejalde Neuroectodermal Melanolysosomal Syndrome
Ataxia, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hai... OMIM:256710
Xq25 Microduplication Syndrome
Hyperactivity, Anxiety, Highly arched eyebrow, Sparse eyebrow ORPHA:521258
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Ataxia, Irregular hyperpigmentation, Hypopigmentation of hair, Abnor... ORPHA:2885
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility ORPHA:2239
Uncombable Hair Syndrome
Woolly hair, Patchy alopecia, Coarse hair, Trichodysplasia, Abnormal hair morphology, White hair ORPHA:1410
Hyperprolinemia, Type I
Ataxia, Hyperactivity, Aggressive behavior OMIM:239500
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear/anxiety-related behavior, Hyperactivity, Resting tremor, Tremor, Aggressive behavio... ORPHA:3077
Complete Androgen Insensitivity Syndrome
Blind vagina, Primary amenorrhea, Female external genitalia in individual with 46,XY karyotype, T... ORPHA:99429
Cyanosis, Transient Neonatal
Methemoglobinemia, Reticulocytosis, Anemia OMIM:613977
Hereditary Methemoglobinemia
Methemoglobinemia, Small for gestational age, Athetosis, Limb dystonia, Abnormality of the nail ORPHA:621
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Griscelli Syndrome Type 1
Ataxia, Retinopathy, Partial albinism, Iris hypopigmentation, Premature graying of hair, White hair ORPHA:79476
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Increased adipo... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hypopigmentation of the skin, Childhood-onset truncal obesity, Increased adipo... ORPHA:71526
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligospermia, Clitoral hypoplasia OMIM:614813
Alpha-Thalassemia-Myelodysplastic Syndrome
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia ORPHA:231401
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity OMIM:301008
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Hyperactivity, Dysmetria OMIM:618090
Chediak-Higashi Syndrome
Ataxia, Ocular albinism, Hemophagocytosis, Splenomegaly, Hypopigmentation of the skin, Abnormal d... OMIM:214500
Classic Galactosemia
Oligomenorrhea, Primary amenorrhea, Decreased fertility in females, Secondary amenorrhea, Male in... ORPHA:79239
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Chromosome Xq25 Duplication Syndrome
Hyperactivity, Thick eyebrow, Sparse eyebrow, Anxiety, Highly arched eyebrow OMIM:300979
Abcd Syndrome
Polycythemia, Large for gestational age, Albinism, White eyelashes, White eyebrow, Hypopigmentati... OMIM:600501
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Hypoplasia of the fovea, Depigmented fundus, Optic ner... ORPHA:352731
Oculocutaneous Albinism Type 3
Blue irides, Hypopigmentation of the skin, Optic nerve misrouting, Iris hypopigmentation, White e... ORPHA:79433
Beta-Thalassemia
Abnormal hemoglobin, Splenomegaly, Microcytic anemia, Anemia, Thrombocytopenia, Irritability ORPHA:848
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Failure to thrive, Ataxia, Hypopigmentation of hair, Progressive neurologic deterioration, Chorea... ORPHA:70472
Anemia, Congenital Dyserythropoietic, Type Iv
Circulating nucleated red blood cells, Anemia of inadequate production, Splenomegaly, Anemia, Ani... OMIM:613673
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Hyperactivity, Memory impairment, Self-biting, Nail-biting, Hyperpigment... OMIM:619827
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:300448
Waardenburg Syndrome, Type 4A
Ataxia, Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premat... OMIM:277580
Waardenburg Syndrome, Type 2A
Numerous pigmented freckles, Partial albinism, Albinism, White eyelashes, White eyebrow, Synophry... OMIM:193510
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Heterochromia iridis, White forelock, Premature graying of hair, Hypopi... ORPHA:895
Hypotrichosis 8
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... OMIM:278150
Mucopolysaccharidosis, Type Iiic
Hirsutism, Hypertrichosis, Hyperactivity, Rod-cone dystrophy, Splenomegaly, Coarse hair, Motor de... OMIM:252930
Sickle Cell Anemia
Increased mean corpuscular volume, Leukocytosis, Hypochromic anemia, Persistence of hemoglobin F,... ORPHA:232
Landau-Kleffner Syndrome
Social and occupational deterioration, Hyperactivity, Anxiety, Memory impairment, Gait ataxia, At... ORPHA:98818
Waardenburg Syndrome, Type 4B
Blue irides, White eyebrow, White eyelashes, Heterochromia iridis, White forelock, Premature gray... OMIM:613265
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia, Opisthotonus OMIM:250800
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Abnormal leukocyte morphology, Ataxia, Failure to thrive, Anemia, Generalized ... ORPHA:3322
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Hypopigmentation of the sk... ORPHA:79432
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Hypogonadism ORPHA:300298
Hermansky-Pudlak Syndrome 3
Hypopigmentation of the skin, Albinism, Hypopigmentation of hair, Abnormal number of dense granules OMIM:614072
Piebaldism
Ataxia, Heterochromia iridis, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys... ORPHA:2884
Diamond-Blackfan Anemia 3
Increased mean corpuscular volume, Persistence of hemoglobin F, Macrocytic anemia, Reticulocytope... OMIM:610629
Oculocutaneous Albinism
Ocular albinism, Generalized hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of ... ORPHA:55
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, female, Decreased fertility in males, Ambiguous genitalia, male, Male pseudo... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Precocious puberty in females, Blind vagina, Ambiguous genitalia, male, Micropenis, Ovarian cyst,... ORPHA:90793
Griscelli Syndrome Type 2
Hemophagocytosis, Splenomegaly, Hypopigmentation of hair, Pancytopenia, Partial albinism, Iris hy... ORPHA:79477
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Ermine Phenotype
Spotty hyperpigmentation, Albinism, White eyelashes, White eyebrow, Vitiligo, White hair OMIM:227010
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Fair hair, Blue irides, Obesity, Red hair OMIM:614613
Bloom Syndrome
Male infertility, Azoospermia, Oligospermia, Premature ovarian insufficiency ORPHA:125
Mucopolysaccharidosis, Type Iiib
Hirsutism, Hyperactivity, Splenomegaly, Coarse hair, Progressive neurologic deterioration, Aggres... OMIM:252920
Intellectual Developmental Disorder, Autosomal Dominant 43
Failure to thrive, Hirsutism, Ataxia, Hyperactivity, Anxiety, Synophrys, Aggressive behavior, Umb... OMIM:616977
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair, Obesity ORPHA:177910
Cln5 Disease
Ataxia, Hyperactivity, Dysmetria, Mental deterioration, Dysdiadochokinesis, Anxiety, Truncal atax... ORPHA:228360
Aromatase Deficiency
Female infertility, Ambiguous genitalia, female, Hypergonadotropic hypogonadism, Primary amenorrh... ORPHA:91
Waardenburg Syndrome Type 1
Thick eyebrow, Hypopigmentation of hair, White eyebrow, White eyelashes, Synophrys, Heterochromia... ORPHA:894
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... ORPHA:1772
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Chromosome Xq13 Duplication Syndrome
Hyperactivity, Anxiety, Autoimmune thrombocytopenia, Attention deficit hyperactivity disorder, Ag... OMIM:301069
Squalene Synthase Deficiency
Abnormality of hair pigmentation, Optic nerve hypoplasia, Elbow flexion contracture, Knee flexion... OMIM:618156
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Chorea, Gait ataxia, Aggressive behavior, Impaired pain sensation, Dystonia ORPHA:500180
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Happy demeanor, Ataxia, Hyperactivity, Hypopigmentation of the skin, Hypopigmentation of hair, Tr... ORPHA:98794
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... OMIM:300835
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity OMIM:301076
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Failure to thrive, Flexion contracture, Aplasia/Hypoplasia of the eyebrow, Microcytic anemia, HbH... ORPHA:98791
Bone Marrow Failure Syndrome 3
Failure to thrive, Hyperactivity, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Aplastic anemia... OMIM:617052
Chédiak-Higashi Syndrome
Ataxia, Hemophagocytosis, Tremor, Increased proportion of CD25+ mast cells, Pancytopenia, Large c... ORPHA:167
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggressive behavior, Obesity OMIM:301013
Myoclonic-Astatic Epilepsy
Ataxia, Hyperactivity, Abnormal emotion/affect behavior, Frontal balding, Tremor, Attention defic... ORPHA:1942
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
2Q23.1 Microdeletion Syndrome
Generalized hirsutism, Ataxia, Self-injurious behavior, Hyperactivity, Synophrys, Highly arched e... ORPHA:228402
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Generalized hirsutism, Hypopigmentation of hair, Fine hair, Weight loss ORPHA:2221
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Mucopolysaccharidosis, Type Iiia
Hirsutism, Hyperactivity, Inguinal hernia, Splenomegaly, Coarse hair, Synophrys, Umbilical hernia OMIM:252900
Chromosome 2Q37 Deletion Syndrome
Pain insensitivity, Self-injurious behavior, Hyperactivity, Aggressive behavior, Obesity, Highly ... OMIM:600430
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal external genitalia, Micropenis, Abnormal ovarian morphology, Abnormality of male externa... ORPHA:95699
Intellectual Developmental Disorder, Autosomal Recessive 38
Aggressive behavior, Hyperactivity, Blue irides, Self-mutilation OMIM:615516
Carney Complex
Sertoli cell neoplasm, Precocious puberty, Decreased fertility in males, Ovarian cyst, Leydig cel... ORPHA:1359
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Obesity, Red hair OMIM:609734
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Hypoplasia of the fovea,... ORPHA:79431
X-Linked Creatine Transporter Deficiency
Ataxia, Hyperactivity, Self-mutilation, Cachexia, Chorea, Athetosis, Dystonia ORPHA:52503
Infantile Neuroaxonal Dystrophy
Ataxia, Hyperactivity, Flexion contracture, Mental deterioration, Optic atrophy, Psychomotor dete... ORPHA:35069
Hb Bart'S Hydrops Fetalis
Anemia, Abnormal hemoglobin, Splenomegaly ORPHA:163596
Neurodegeneration With Brain Iron Accumulation 1
Ataxia, Blepharospasm, Hyperactivity, Retinal degeneration, Mental deterioration, Pigmentary reti... OMIM:234200
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Hyperactivity, Lymphopenia, Aggressive behavior, Synophrys, Irritability ORPHA:391307
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Hyperactivity, Retinal degeneration, Mental deterioration, Anxiety, Motor deterioration, ... ORPHA:168491
Graves Disease, Susceptibility To, 1
Weight loss, Hyperactivity, Onycholysis, Irritability OMIM:275000
Bone Marrow Failure Syndrome 6
Increased mean corpuscular volume, Lymphopenia, Persistence of hemoglobin F, Neutropenia, Anemia OMIM:618849
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dysmetria, Intention tremor, Mental deterioration, Dysdiadochokinesis, Chorea, Opt... OMIM:610217
Dehydrated Hereditary Stomatocytosis
Increased mean corpuscular volume, Anemia of inadequate production, Nonspherocytic hemolytic anem... ORPHA:3202
Dominant Beta-Thalassemia
Decreased mean corpuscular volume, Splenomegaly, Extramedullary hematopoiesis, Anisocytosis, Pers... ORPHA:231226
Angelman Syndrome Due To A Point Mutation
Happy demeanor, Ataxia, Hypopigmentation of the skin, Hypopigmentation of hair, Iris hypopigmenta... ORPHA:411511
Beta-Thalassemia Major
Anemia of inadequate production, Decreased mean corpuscular volume, Splenomegaly, Extramedullary ... ORPHA:231214
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Nail dysplasia, Pain insensitivity, Corneal scarring, Hyperactivity, Self-muti... OMIM:256800
Oculocerebral Hypopigmentation Syndrome, Cross Type
Ataxia, Choroideremia, Ocular albinism, Inguinal hernia, Hypopigmentation of hair, Athetosis, Iri... ORPHA:2719
Renal Cysts And Diabetes Syndrome
Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Hyposp... OMIM:137920
Diphallia
Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... ORPHA:227
Beta-Thalassemia
Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
13Q12.3 Microdeletion Syndrome
Failure to thrive, Hyperactivity, Congenital diaphragmatic hernia, Self-mutilation, Camptodactyly... ORPHA:412035
Diamond-Blackfan Anemia 6
Increased mean corpuscular volume, Failure to thrive, Persistence of hemoglobin F, Macrocytic anemia OMIM:612561
Angelman Syndrome
Happy demeanor, Ataxia, Fair hair, Self-injurious behavior, Hyperactivity, Hypopigmentation of th... ORPHA:72
Legius Syndrome
Inguinal freckling, Hyperactivity, Cognitive impairment, Acute monocytic leukemia, Axillary freck... ORPHA:137605
Angelman Syndrome
Fair hair, Blue irides, Hyperactivity, Hypopigmentation of the skin, Progressive gait ataxia, Lim... OMIM:105830
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia ORPHA:228123
Cntnap2-Related Developmental And Epileptic Encephalopathy
Ataxia, Hyperactivity, Progressive language deterioration, Self-mutilation, Mental deterioration,... ORPHA:163681
Erythrocytosis, Familial, 5
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617907
Intellectual Developmental Disorder, Autosomal Dominant 45
Slender build, Hyperactivity, Anxiety, Chorea, Attention deficit hyperactivity disorder OMIM:617600
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Blue irides, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Absent... OMIM:203100
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Cachexia, Camptodactyly of finger, Abnormal hair pattern, Tremor,... ORPHA:85293
Pediatric-Onset Graves Disease
Failure to thrive, Neutropenia in presence of anti-neutropil antibodies, Hyperactivity, Splenomeg... ORPHA:525731
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Ermine Phenotype
Irregular hyperpigmentation, Ocular albinism, Hypopigmentation of hair, Iris hypopigmentation, Hy... ORPHA:999
Purine Nucleoside Phosphorylase Deficiency
Ataxia, Hyperactivity, Lymphopenia, Autoimmune thrombocytopenia, Autoimmune hemolytic anemia, Abn... ORPHA:760
Erythrocytosis, Familial, 6
Polycythemia, Increased hemoglobin, Increased hematocrit OMIM:617980
Tetrasomy 9P
Infertility, Micropenis, Pachygyria, Oligospermia, Polymicrogyria, Lissencephaly, Cryptorchidism ORPHA:3310
Glass Syndrome
Nail dysplasia, Happy demeanor, Hyperactivity, Sparse hair, Inguinal hernia, Camptodactyly, Aggre... OMIM:612313
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin, Cafe-au-lait spot, Hypopigmentation of hair, Splenomegaly OMIM:618541
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Inguinal hernia, Cognitive impairment, Fine hair, Anemia, White hair ORPHA:935
X-Linked Adrenoleukodystrophy
Hyperactivity, Cognitive impairment, Somatic sensory dysfunction, Attention deficit hyperactivity... ORPHA:43
Acquired Methemoglobinemia
Methemoglobinemia, Anxiety ORPHA:464453
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F, Overweight, Hiatus hernia, Umbilical hernia OMIM:619769
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Leukocytosis, Splenomegaly, E... ORPHA:231222
Hypohidrotic Ectodermal Dysplasia
Failure to thrive, Irregular hyperpigmentation, Abnormal hair quantity, Cognitive impairment, Apl... ORPHA:238468
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormality of skin pigmentation, Synophry... ORPHA:3440
Hermansky-Pudlak Syndrome 1
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Freckles in sun-exposed ... OMIM:203300
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related
Supernumerary nipple, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, HbH hemo... OMIM:141750
Hermansky-Pudlak Syndrome
Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Partial albinism, Iris h... ORPHA:79430
Pitt-Hopkins-Like Syndrome 1
Ataxia, Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042
Syndromic Diarrhea
Woolly hair, Lymphopenia, Brittle hair, Generalized hypopigmentation, Inguinal hernia, Splenomega... ORPHA:84064
Joubert Syndrome 1
Ataxia, Hyperactivity, Self-mutilation, Retinal dystrophy, Optic disc coloboma, Optic disc pallor... OMIM:213300
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Self-injurious behavior, Flexion contracture, Optic atrophy, Anemia ORPHA:847
Blackfan-Diamond Anemia
Increased mean corpuscular volume, Low anterior hairline, Neutropenia, Small for gestational age,... ORPHA:124
Choreoacanthocytosis
Laryngeal dystonia, Mental deterioration, Chorea, Limb dystonia, Emotional lability, Weight loss,... ORPHA:2388
Shwachman-Diamond Syndrome 1
Failure to thrive, Small for gestational age, Persistence of hemoglobin F, Pancytopenia, Neutrope... OMIM:260400
Magel2-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Flexion contracture, Cognitive impairment, Hypopigmentation... ORPHA:398069
Sim1-Related Prader-Willi-Like Syndrome
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Cho... ORPHA:398079
Brittle Cornea Syndrome
Corneal scarring, Abnormality of hair pigmentation, Retinal detachment, Camptodactyly, Hernia ORPHA:90354
Muenke Syndrome
Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches ORPHA:53271
Brittle Cornea Syndrome 1
Atypical scarring of skin, Dentinogenesis imperfecta, Red hair OMIM:229200
Vici Syndrome
Failure to thrive, Ocular albinism, Hypopigmentation of the skin, Hypopigmentation of hair, Albin... OMIM:242840
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Ectodermal Dysplasia, Hidrotic, Christianson-Fourie Type
Sparse scalp hair, Fair hair, Absent eyebrow, Sparse axillary hair, Sparse eyelashes, Short eyela... OMIM:601375
Prader-Willi Syndrome
Abdominal obesity, Self-injurious behavior, Generalized hypopigmentation, Hypopigmentation of the... OMIM:176270
Carney Complex, Type 1
Hirsutism, Multiple lentigines, Profuse pigmented skin lesions, Freckling, Red hair OMIM:160980
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Iris hypopigmentation, Freckling, Hyperpigmentation of the skin, Multip... ORPHA:3214
Hereditary Sensory And Autonomic Neuropathy Type 4
Corneal scarring, Pain insensitivity, Aplasia of the sweat glands, Hyperactivity, Trophic limb ch... ORPHA:642
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Sparse scalp hair, Failure to thrive, Hyperactivity, Sparse hair, Inguinal hernia, Loose anagen h... OMIM:607721
Thymoma
Aplastic anemia, Imbalanced hemoglobin synthesis, Pure red cell aplasia, Weight loss, Leukemia ORPHA:99867
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of the skin, Iris hypopigmentation, Hypopigmentation of hair ORPHA:98795
Chromosome 15Q25 Deletion Syndrome
Hyperactivity, Congenital diaphragmatic hernia, Inguinal hernia, Macrocytic anemia, Attention def... OMIM:614294
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Ataxia, Splenomegaly, Hypopigmentation of hair, Arthrogryposis multi... ORPHA:163746
Microcephaly 29, Primary, Autosomal Recessive
Ataxia, Thick eyebrow, Hyperactivity, Emotional lability OMIM:620047
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... ORPHA:98754
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... ORPHA:98793
Prader-Willi Syndrome Due To Translocation
Happy demeanor, Head-banging, Stellate iris, Hypopigmentation of the skin, Hypopigmentation of ha... ORPHA:177907
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... ORPHA:177901
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Flexion contracture of digit, Hyperactivity, Inguinal hernia... ORPHA:580
Prader-Willi-Like Syndrome
Failure to thrive, Self-injurious behavior, Small for gestational age, Hypopigmentation of the sk... ORPHA:398073
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Weight loss, Hyperactivity, Hand tremor, Small for gestational age ORPHA:424
Cystic Fibrosis
Male infertility OMIM:219700
Prader-Willi Syndrome
Abdominal obesity, Failure to thrive, Hypopigmentation of the skin, Hypopigmentation of hair, Att... ORPHA:739
Alpha-Thalassemia/Mental Retardation Syndrome, X-Linked
HbH hemoglobin, Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia, Umbilical hernia OMIM:301040
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture, Abnormal dental enamel morphology ORPHA:96169
Menkes Disease
Woolly hair, Sparse hair, Inguinal hernia, Chondrocalcinosis, Hypopigmentation of hair, Chorea, H... ORPHA:565
Degcags Syndrome
Hypertrichosis, Hiatus hernia, Long eyelashes, Pancytopenia, Abnormal spleen morphology, Anemia, ... OMIM:619488
Familial Gestational Hyperthyroidism
Weight loss, Hyperactivity, Hand tremor ORPHA:99819
Cystinosis, Nephropathic
Male infertility, Male hypogonadism OMIM:219800
Histidinemia
Hyperactivity ORPHA:2157
Noonan Syndrome 1
Hypospadias, Cryptorchidism, Male infertility, Hypogonadism OMIM:163950
Acrodysostosis With Multiple Hormone Resistance
Hyperactivity, Fair hair, Blue irides, Obesity, Red hair ORPHA:280651
Smith-Lemli-Opitz Syndrome
Self-injurious behavior, Congenital diaphragmatic hernia, Hypopigmentation of hair, Optic atrophy... ORPHA:818
Autosomal Recessive Faciodigitogenital Syndrome
Hypopigmentation of hair, Coarse hair, Dry hair, Widow's peak ORPHA:1974
Alström Syndrome
Precocious puberty in females, Decreased fertility in males, Micropenis, Hypergonadotropic hypogo... ORPHA:64
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Abnormality of skin pigmentation, Hypopigmented skin patches, Foot... 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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