Gene Summary

Name:
bromodomain adjacent to zinc finger domain 1A
Synonyms:
Acf1,  Gtl5,  Wcrf180

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 mean corpuscular hemoglobin concentration Baz1atm1b(EUCOMM)Hmgu HOM Early adult 2.42×10-06
decreased mean corpuscular hemoglobin Baz1atm1b(EUCOMM)Hmgu HOM Early adult 8.49×10-05
male infertility Baz1atm1b(EUCOMM)Hmgu HOM Early adult 0.00
abnormal stomach morphology Baz1atm1b(EUCOMM)Hmgu HOM Early adult 0.00
decreased exploration in new environment Baz1atm1b(EUCOMM)Hmgu HOM   Early adult 2.74×10-05
increased mean platelet volume Baz1atm1b(EUCOMM)Hmgu HOM Early adult 1.40×10-05
increased grip strength Baz1atm1b(EUCOMM)Hmgu HOM Early adult 2.34×10-05

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Skull Lateral Orientation

10 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Hind Leg and Hip

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Gross Pathology and Tissue Collection

Images

12 Images

Histopathology

Images

4 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Human diseases caused by Baz1a 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Baz1a by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Spermatogenic Failure 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
Spermatogenic Failure 76
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap... OMIM:620084
Spermatogenic Failure 80
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse... OMIM:620222
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 11
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility OMIM:614822
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Spermatogenic Failure 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 72
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre... OMIM:619867
Spermatogenic Failure 34
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Spermatogenic Failure 37
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618429
Spermatogenic Failure 18
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:617576
Spermatogenic Failure 46
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:619095
Spermatogenic Failure 27
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ... OMIM:617965
Spermatogenic Failure 33
Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl... OMIM:618152
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re... ORPHA:529970
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 43
Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm... OMIM:618751
Spermatogenic Failure 45
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:617592
Spermatogenic Failure 82
Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility... OMIM:620353
Spermatogenic Failure 49
Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe... OMIM:619144
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 41
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm OMIM:618670
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 87
Male infertility, Ruffled acrosome OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 62
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 88
Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia OMIM:620547
Isochromosomy Yp
Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia ORPHA:98797
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia OMIM:619831
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada... ORPHA:98798
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
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
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Elevated circulating ... OMIM:620103
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 17
Male infertility OMIM:617214
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Spermatogenic Failure 2
Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia OMIM:108420
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Deleted in azoospermia
Azoospermia OMIM:400003
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:616950
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Azoospermia OMIM:615703
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Bleeding Disorder, Platelet-Type, 24
Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl... OMIM:619271
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp... ORPHA:52901
Bleeding Disorder, Platelet-Type, 16
Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ... OMIM:187800
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Young Syndrome
Azoospermia OMIM:279000
Autosomal Recessive Spastic Paraplegia Type 46
Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A... ORPHA:320391
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Bleeding Disorder, Platelet-Type, 15
Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre... OMIM:615193
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Bleeding Disorder, Platelet-Type, 25
Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggregation, Increa... OMIM:620486
Giant platelet syndrome with thrombocytopenia
Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage OMIM:137560
Spermatogenic Failure 14
Male infertility, Azoospermia, Abnormal prolactin level, Round spermatid arrest, Elevated circula... OMIM:615842
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia ORPHA:494444
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ... OMIM:155100
Bernard-Soulier Syndrome
Gastrointestinal hemorrhage, Giant platelets, Menorrhagia, Thrombocytopenia, Macrothrombocytopeni... OMIM:231200
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Congenital shortened small intestine, Intestinal malrotation, Incr... OMIM:300048
Platelet Glycoprotein Iv Deficiency
Thrombocytopenia, Giant platelets OMIM:608404
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Infertility, Decreased testicular size, Elevated circulating luteinizing hormone lev... OMIM:229070
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Male infertility, Azoospermia OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Absent vas deferens, Male infertility, Azoospermia OMIM:277180
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin ORPHA:231249
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Spermatogenic Failure 13
Male infertility, Elevated circulating follicle stimulating hormone level, Abnormal prolactin lev... OMIM:615841
Adrenal Hypoplasia, Congenital
Azoospermia, Oligozoospermia, Precocious puberty, Primary adrenal insufficiency, Decreased circul... OMIM:300200
Bleeding Disorder, Platelet-Type, 21
Impaired platelet aggregation, Impaired ADP-induced platelet aggregation, Increased mean platelet... OMIM:617443
Thrombocytopenia 4
Thrombocytopenia, Abnormal platelet volume OMIM:612004
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Myh9-Related Disease
Neutrophil inclusion bodies, Giant platelets, Increased mean platelet volume, Menorrhagia, Congen... ORPHA:182050
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
47,Xyy Syndrome
Male infertility, Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating go... ORPHA:8
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Functioning Gonadotropic Adenoma
Isosexual precocious puberty, Decreased response to growth hormone stimulation test, Anterior hyp... ORPHA:91348
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of
Megaloblastic anemia, Absence of intrinsic factor OMIM:243320
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr... OMIM:153670
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased testicular size, Primary amenorrhea, Cryptorchid... OMIM:614837
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali... OMIM:228300
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio OMIM:613978
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Hypospadias, Abnormal reproductive sys... ORPHA:1916
Beta-Thalassemia, Dominant Inclusion Body Type
Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, Erythrocyte inc... OMIM:603902
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Anemia, Abnormal hemoglobin ORPHA:3319
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Slc35A1-Cdg
Thrombocytopenia, Giant platelets, Abnormal platelet granules, Neutropenia ORPHA:238459
Bleeding Disorder, Platelet-Type, 19
Macrothrombocytopenia, Thrombocytopenia, Anemia, Menorrhagia OMIM:616176
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Pituitary Dermoid And Epidermoid Cysts
Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpituitarism, Oligomenorrhea, ... ORPHA:91351
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased testicular size, Hypogonadism, Primary amenorrhea, Cryptorchidism, Micropenis OMIM:614897
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Ciliary Dyskinesia, Primary, 12
Immotile sperm, Abnormal central microtubular pair morphology of respiratory motile cilia, Reduce... OMIM:612650
Delta-Beta-Thalassemia
Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231237
Partial Androgen Insensitivity Syndrome
Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut... ORPHA:90797
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Intrinsic Factor Deficiency
Increased mean corpuscular volume, Megaloblastic anemia, Megaloblastic erythroid hyperplasia, Abs... OMIM:261000
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Azoo... ORPHA:261519
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Macrothrombocytopenia, Impaired platelet aggregation, Menorrhagia, Thrombocytopenia OMIM:124900
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Chronic Intestinal Pseudoobstruction
Pyloric stenosis, Intestinal malrotation, Abnormal intestine morphology, Abnormal platelet morpho... ORPHA:2978
Pelger-Huet Anomaly
Giant platelets, Median cleft palate, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Ab... OMIM:169400
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Thrombocytopenia 2
Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume OMIM:188000
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Deafness-Hypogonadism Syndrome
Abnormal spermatogenesis, Hypergonadotropic hypogonadism ORPHA:90646
Lead Poisoning
Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m... ORPHA:330015
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Hypochromic... ORPHA:67044
Bernard-Soulier Syndrome
Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Menorrhagia, Decreased platelet glycop... ORPHA:274
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Sitosterolemia 1
Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly... OMIM:210250
Myotonic Dystrophy 2
Oligozoospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism OMIM:602668
46,Xy Partial Gonadal Dysgenesis
Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A... ORPHA:251510
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Platelet anisocytosis, Increased mean platelet volume, High palate, Thrombocytopenia OMIM:620475
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Azoospermia ORPHA:1445
Generalized Glucocorticoid Resistance Syndrome
Infertility, Oligozoospermia, Female pseudohermaphroditism, Oligomenorrhea, Precocious puberty, D... ORPHA:786
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis... OMIM:278850
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased testicular size, Hypergonadotropic hypogonadism, Decreased response to growth hormone s... ORPHA:280679
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Normosmic Congenital Hypogonadotropic Hypogonadism
Increased female libido, Hypoplasia of the uterus, Male hypogonadism, Azoospermia, Hypoplasia of ... ORPHA:432
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Testicular atrophy, Decreased testicular size, Small scrotum, Cryptorchidism, Microp... OMIM:308700
Ciliary Dyskinesia, Primary, 15
Infertility, Immotile sperm, Abnormal axonemal organization of respiratory motile cilia OMIM:613808
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Cyanosis, Transient Neonatal
Anemia, Methemoglobinemia, Reticulocytosis OMIM:613977
Ciliary Dyskinesia With Defective Radial Spokes
Immotile sperm, Absent respiratory ciliary axoneme radial spokes OMIM:242670
49,Xyyyy Syndrome
External genital hypoplasia, Azoospermia, Abnormality of the testis size, Decreased testicular si... ORPHA:99330
Alpha-Thalassemia Myelodysplasia Syndrome
HbH hemoglobin, Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:300448
Ciliary Dyskinesia, Primary, 22
Absent inner and outer dynein arms, Infertility, Reduced sperm motility OMIM:615444
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Beta-Thalassemia
Irritability, Anemia, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin, Hypogonadotropic hypog... ORPHA:848
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes... ORPHA:99429
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Hemochromatosis, Type 1
Azoospermia, Impotence, Amenorrhea, Hypogonadotropic hypogonadism, Testicular atrophy OMIM:235200
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Congenital Disorder Of Glycosylation, Type Iig
Giant platelets, Anemia, Glossoptosis, High palate, Cleft palate, Thrombocytopenia OMIM:611209
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Macrothrombocytopenia, Impaired platelet aggregation OMIM:613112
Syndromic Recessive X-Linked Ichthyosis
Acute leukemia, Abnormal stomach morphology, Attention deficit hyperactivity disorder, Hypogonadism ORPHA:281090
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Female external genitalia in individual with 46,XY karyotype, Ambiguous genitalia, male, Clitoral... ORPHA:90791
Gapo Syndrome
Amenorrhea, Dysmenorrhea, Oligozoospermia, Hypogonadism ORPHA:2067
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ambiguous genitalia, male, Precocious puberty in females, Aplasia of the uterus, Bifid scrotum, D... ORPHA:90793
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Thrombocytopenia 10
Decreased mean platelet volume, Menorrhagia, Thrombocytopenia OMIM:620484
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Anemia, Reticulocytosis, Cognitive impairment, Hepatosplen... ORPHA:846
Classic Galactosemia
Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ... ORPHA:79239
Takenouchi-Kosaki Syndrome
Increased mean platelet volume, Thrombocytopenia OMIM:616737
Trichohepatoenteric Syndrome 1
Cognitive impairment, Increased mean platelet volume, Bifid uvula, Splenomegaly, Thrombocytosis, ... OMIM:222470
Syndromic Diarrhea
Villous atrophy, Gastritis, Hypoplasia of the thymus, Increased mean platelet volume, Splenomegal... ORPHA:84064
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:300946
Diamond-Blackfan Anemia 3
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:610629
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Adrenal insufficiency, Hypogonadism, Azoospermia ORPHA:300298
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadotropic hypogonadis... OMIM:300845
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Oligozoospermia, Clitoral hypoplasia OMIM:614813
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Storage Pool Platelet Disease
Acute leukemia, Decreased mean platelet volume OMIM:185050
Thrombocytopenia 3
Decreased mean platelet volume, Thrombocytopenia OMIM:273900
45,X/46,Xy Mixed Gonadal Dysgenesis
Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital sinus anomaly, Mic... ORPHA:1772
Polyposis of gastric fundus without polyposis coli
Abnormal gastric mucosa morphology, Multiple gastric polyps OMIM:175505
Anemia, Congenital Dyserythropoietic, Type Iv
Reduced hematocrit, Anemia, Anemia of inadequate production, Persistence of hemoglobin F, Reticul... OMIM:613673
Pyloric Atresia
Congenital pyloric atresia OMIM:265950
Hepatoportal Sclerosis
Gastric varix, Gastrointestinal hemorrhage, Anemia, Hepatocellular carcinoma, Esophageal varix, C... ORPHA:64743
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism ORPHA:2239
Familial Glucocorticoid Deficiency
Azoospermia, Cryptorchidism, Precocious puberty, Congenital hypothyroidism, Leydig cell neoplasia... ORPHA:361
Alpha-1-Antitrypsin Deficiency
Gastric varix, Hepatocellular carcinoma, Splenomegaly OMIM:613490
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Ménétrier Disease
Gastrointestinal hemorrhage, Hypochromic microcytic anemia, Gastroesophageal reflux, Stomach canc... ORPHA:2494
Bleeding Disorder, Platelet-Type, 17
Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ... OMIM:187900
Bone Marrow Failure Syndrome 6
Anemia, Increased mean corpuscular volume, Squamous cell carcinoma of the tongue, Persistence of ... OMIM:618849
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio OMIM:604131
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Hypogonadism, Patent ductus arteriosus, Cryptorchidism, Hypogon... ORPHA:251066
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Agonadism, Infertility, Impotence, Non-obstructive azoospermia, Hypergonadotropic hypogonadism, A... ORPHA:2232
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Gastric varix, Increased mean corpuscular volume, Esophageal varix, Thrombocytopenia, Splenomegaly OMIM:620367
Bloom Syndrome
Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia ORPHA:125
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Thrombocytopenia OMIM:188025
Serrated Polyposis Syndrome
Gastric diverticulum, Colorectal polyposis, Biliary tract neoplasm, Neoplasm of the large intesti... ORPHA:157798
Thrombocytopenia 1
Decreased mean platelet volume, Intermittent thrombocytopenia, Congenital thrombocytopenia OMIM:313900
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Lymphocytosis, Decreased mean platelet volume, Inflammation of the large intestine, Thrombocytope... OMIM:617718
Hb Bart'S Hydrops Fetalis
Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Increased mean platelet volume, Thrombocytopenia ORPHA:487796
Ziegler-Huang Syndrome
Persistence of hemoglobin F, Hypogonadism, Macrocytic anemia, Neutropenia OMIM:620501
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal female external genitalia morphology, Hypospadias, Abnormal ovarian morphology, Abnormal... ORPHA:95699
Wiskott-Aldrich Syndrome
Autoimmune hemolytic anemia, Hematemesis, Impaired lymphocyte transformation with phytohemaggluti... OMIM:301000
Woodhouse-Sakati Syndrome
Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to growth hormone s... ORPHA:3464
Carney Complex
Testicular neoplasm, Increased circulating prolactin concentration, Ovarian dermoid cyst, Decreas... ORPHA:1359
Nk-Cell Enteropathy
Duodenal ulcer, Gastroesophageal reflux, Increased T cell count, Abnormal gastric mucosa morpholo... ORPHA:263665
Diphallia
Penoscrotal transposition, Epispadias, Bifid penis, Hypospadias, Ectopic scrotum, Abnormal sperma... ORPHA:227
Renal Cysts And Diabetes Syndrome
Hypospadias, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Exocrine pancreatic... OMIM:137920
Congenital Disorder Of Glycosylation, Type Iif
Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Thrombocytopenia, Neutropenia OMIM:603585
Sickle Cell Anemia
Chronic hemolytic anemia, Iron deficiency anemia, Increased mean corpuscular volume, Leukocytosis... ORPHA:232
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia OMIM:612138
Diamond-Blackfan Anemia 6
Macrocytic anemia, Increased mean corpuscular volume, Persistence of hemoglobin F, Bifid uvula, C... OMIM:612561
Coccidioidomycosis
Abnormality of the male genitalia, Abnormality of the female genitalia, Pancreatitis, Abnormal sp... ORPHA:228123
Beta-Thalassemia Intermedia
Anemia of inadequate production, Hepatocellular carcinoma, Leukocytosis, Persistence of hemoglobi... ORPHA:231222
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Hereditary Methemoglobinemia
Methemoglobinemia ORPHA:621
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Hiatus hernia, Persistence of hemoglobin F, Gastroesophageal reflux OMIM:619769
Dominant Beta-Thalassemia
Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemoglobin concentration,... ORPHA:231226
Acquired Methemoglobinemia
Confusion, Methemoglobinemia ORPHA:464453
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia OMIM:210900
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, High palate, Microcytic anemia ORPHA:98791
Beta-Thalassemia Major
Anisopoikilocytosis, Irritability, Hypochromic microcytic anemia, Decreased mean corpuscular hemo... ORPHA:231214
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Polycythemia, Methemoglobinemia OMIM:250800
Trichothiodystrophy 6, Nonphotosensitive
Increased HbA2 hemoglobin, Decreased mean corpuscular volume OMIM:616943
Autosomal Dominant Polycystic Kidney Disease
Reduced sperm motility ORPHA:730
Tetrasomy 9P
Polymicrogyria, Infertility, Oligozoospermia, Pachygyria, Lissencephaly, Cryptorchidism, Micropenis ORPHA:3310
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia ORPHA:2357
Ornithine Transcarbamylase Deficiency
Pyloric stenosis, Splenomegaly ORPHA:664
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Aganglionic megacolon, Anemia, Gastroesophageal reflux, Depression, Volvulus, Abnormal hemoglobin... ORPHA:847
Thymoma
Aplastic anemia, Pure red cell aplasia, Neoplasm of the gastrointestinal tract, Imbalanced hemogl... ORPHA:99867
Shwachman-Diamond Syndrome 1
Steatorrhea, Anemia, Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Thrombocy... OMIM:260400
Systemic Sclerosis
Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Gastrointestinal telangiectas... ORPHA:90291
Oculogastrointestinal Muscular Dystrophy
Abnormal gastric mucosa morphology, Spontaneous esophageal perforation, Abnormality of the gastro... ORPHA:1876
Von Hippel-Lindau Syndrome
Epididymal cyst, Papillary cystadenoma of the epididymis OMIM:193300
Microcephalic Primordial Dwarfism, Montreal Type
Congenital pyloric atresia ORPHA:2617
Metachromatic Leukodystrophy
Neoplasm of the gallbladder, Emotional lability, Abnormal duodenum morphology, Dementia, Abnormal... ORPHA:512
Microgastria-Limb Reduction Defect Syndrome
Esophageal atresia, Rectovaginal fistula, Gastroesophageal reflux, Microgastria, Perineal fistula... ORPHA:2538
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F OMIM:617101
Methemoglobinemia And Ambiguous Genitalia
Methemoglobinemia OMIM:250790
Diamond-Blackfan Anemia
Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt... ORPHA:124
Cystic Fibrosis
Absent vas deferens, Male infertility, Exocrine pancreatic insufficiency ORPHA:586
Bone Marrow Failure Syndrome 3
Aplastic anemia, Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume,... OMIM:617052
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Esophageal stenosis, Congenital pyloric atresia OMIM:619817
Von Hippel-Lindau Disease
Epididymal cyst, Hyperhidrosis, Pancreatic islet cell adenoma, Papillary cystadenoma of the epidi... ORPHA:892
Diamond-Blackfan Anemia 1
Elevated red cell adenosine deaminase activity, Macrocytic anemia, Increased mean corpuscular vol... OMIM:105650
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
HbH hemoglobin, Hypochromic microcytic anemia, Gastroesophageal reflux, Reduced alpha/beta synthe... OMIM:301040
Hardikar Syndrome
Hematemesis, Irritability, Gastric varix, Cleft soft palate, Bilateral cleft palate, Esophageal v... OMIM:301068
Congenital Tracheal Stenosis
Meckel diverticulum, Abnormal gastrointestinal tract morphology, Anal atresia, Tracheoesophageal ... ORPHA:141127
Dubin-Johnson Syndrome
Abnormal gastric mucosa morphology ORPHA:234
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Esophageal atresia, Congenital pyloric atresia OMIM:226730
Reynolds Syndrome
Abnormal gastric mucosa morphology, Dysphagia, Xerostomia, Gastroesophageal reflux ORPHA:779
Cystinosis, Nephropathic
Male infertility, Primary hypothyroidism, Hypohidrosis, Exocrine pancreatic insufficiency, Male h... OMIM:219800
Noonan Syndrome 1
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism OMIM:163950
Floating-Harbor Syndrome
Hypospadias, Glandular hypospadias, Varicocele, Epididymal cyst, Cryptorchidism OMIM:136140
Alström Syndrome
Decreased response to growth hormone stimulation test, Pancreatitis, Precocious puberty in female... ORPHA:64
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Varicocele, Epididymal cyst, Cryptorchidism ORPHA:2044
Alkaptonuria
Prostatitis, Hemolytic anemia, Methemoglobinemia ORPHA:56
Viss Syndrome
High, narrow palate, Cleft soft palate, Gastroesophageal reflux, Chronic gastritis, High palate, ... OMIM:619472
Junctional Epidermolysis Bullosa With Pyloric Atresia
Intestinal atresia, Congenital pyloric atresia ORPHA:79403
Williams Syndrome
Peptic ulcer, Rectal prolapse, Gastroesophageal reflux, Depression, Tracheoesophageal fistula, Ab... ORPHA:904
Epidermolysis Bullosa Simplex With Pyloric Atresia
Congenital pyloric atresia ORPHA:158684
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Gastric ulcer OMIM:161700

Histopathology

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

Phenotype Allele Zygosity Sex Life Stage
Testis - MPATH pathological process term spermatogenesis defect Baz1atm1b(EUCOMM)Hmgu HOM Early adult
Epididymis - MPATH pathological process term aspermia Baz1atm1b(EUCOMM)Hmgu HOM Early adult
Testis - MPATH pathological process term dysplasia Baz1atm1b(EUCOMM)Hmgu HOM Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Baz1a.

No publications found that use IMPC mice or data for Baz1a.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Baz1atm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Baz1atm1b(EUCOMM)Hmgu Reporter-tagged deletion allele (with selection cassette) Mice, Tissue
Baz1atm187654(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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