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Gene: Ggnbp2 MGI:2387356

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Gene Summary

Name:
gametogenetin binding protein 2
Synonyms:
DIF-3,  D330017P12Rik,  Zfp403

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal embryo size Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
edema Ggnbp2tm1b(KOMP)Wtsi HET E15.5 0.00
shortened QRS complex duration Ggnbp2tm1b(KOMP)Wtsi HET Early adult 2.62×10-07
increased circulating alanine transaminase level Ggnbp2tm1b(KOMP)Wtsi HET Early adult 1.11×10-05
anophthalmia Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
preweaning lethality, incomplete penetrance Ggnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
decreased circulating total protein level Ggnbp2tm1b(KOMP)Wtsi HET Early adult 3.46×10-05
edema Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Brain N/A heterozygote 66.67% (2 of 3)
Brain N/A homozygote Ambiguous
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Ear N/A heterozygote 66.67% (2 of 3)
Ear N/A homozygote Ambiguous
Embryo N/A heterozygote 100% (3 of 3)
Embryo N/A homozygote 100% (1 of 1)
Eye N/A heterozygote 66.67% (2 of 3)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 3)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 66.67% (2 of 3)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 66.67% (2 of 3)
Forelimb N/A homozygote Ambiguous
Gut N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 3)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 66.67% (2 of 3)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 66.67% (2 of 3)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 66.67% (2 of 3)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 66.67% (2 of 3)
Hindlimb N/A homozygote Ambiguous
Liver N/A heterozygote 66.67% (2 of 3)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 66.67% (2 of 3)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 66.67% (2 of 3)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 66.67% (2 of 3)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 66.67% (2 of 3)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Oral cavity N/A heterozygote 66.67% (2 of 3)
Oral cavity N/A homozygote Ambiguous
Skeleton N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Skin N/A heterozygote 66.67% (2 of 3)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 66.67% (2 of 3)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 66.67% (2 of 3)
Tail N/A homozygote Ambiguous
Trachea N/A heterozygote 100% (2 of 2)
N/A Ambiguous
Urinary system N/A heterozygote 100% (2 of 2)
N/A Ambiguous

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
axial skeleton Ambiguous
brain 0.0%
central nervous system ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
gut Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skeleton Ambiguous
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%
trachea Ambiguous
urinary system Ambiguous

Associated Images

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

Embryo LacZ

LacZ images wholemount

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Skull Lateral Orientation

12 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

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X-ray

XRay Images Whole Body Lateral Orientation

12 Images

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Eye Morphology

Images Ophthalmoscopy

9 Images

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Histopathology

Images

8 Images

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Gross Morphology Embryo E14.5-E15.5

Images

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

12 Images

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Gross Pathology and Tissue Collection

Images

12 Images

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Eye Morphology

Images Slit Lamp

2 Images

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Combined SHIRPA and Dysmorphology

Images

1 Images

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Human diseases caused by Ggnbp2 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 Ggnbp2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
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
Lipedema
Edema OMIM:614103
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Angioedema, Hereditary, 6
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619363
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 17
Male infertility OMIM:617214
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:309930
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration, Cardiomyopathy OMIM:300376
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Azoospermia, Male hypogonadism OMIM:241000
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
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
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Angioedema, Hereditary, 5
Facial edema, Angioedema, Edema of the dorsum of hands OMIM:619361
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Atrial Fibrillation, Familial, 11
Reduced left ventricular ejection fraction, Prolonged P wave, Atrial fibrillation, Prolonged QRS ... OMIM:614049
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Hypoproteinemia OMIM:260450
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Anophthalmia, Bilateral microphthalmos OMIM:611638
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated creatine kinase after exercise, Elevated circulating creatine kinase concentration ORPHA:206599
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Congestive heart f... OMIM:604765
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Increased circulating cr... OMIM:302045
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, T-wave alternans, Atrioventricu... OMIM:611819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Testicular Anomalies With Or Without Congenital Heart Disease
Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism, Testicular dysge... OMIM:615542
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Brugada Syndrome 9
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope OMIM:616399
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the testes ORPHA:3055
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Atrial Fibrillation, Familial, 9
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... OMIM:613980
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Tachycardia, Elevated circulating creatine kinase concentration, Increased... ORPHA:26793
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia, Elevated circulating creatine kinase concentration OMIM:310095
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Atrial Fibrillation, Familial, 3
Paroxysmal atrial fibrillation, Atrial fibrillation, Sudden cardiac death, Permanent atrial fibri... OMIM:607554
Immunodeficiency 43
Hypoproteinemia, Decreased circulating beta-2-microglobulin level, Hypoalbuminemia OMIM:241600
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Brugada Syndrome 7
Atrial flutter, Paroxysmal atrial fibrillation, ST segment elevation, Permanent atrial fibrillati... OMIM:613120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Congenital Analbuminemia
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Low pulse pressure, Hypercholesterolem... ORPHA:86816
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Pseudovaginal Perineoscrotal Hypospadias
Bifid scrotum, Abnormality of the endocrine system, Cryptorchidism, Perineal hypospadias, Ambiguo... OMIM:264600
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Abnormal left ventricular function, Reduced l... ORPHA:45452
Macular Dystrophy, Dominant Cystoid
Cystoid macular edema, Edema OMIM:153880
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Anencephaly 2
Anophthalmia, Anencephaly OMIM:619452
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Nathalie Syndrome
Abnormal EKG OMIM:255990
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Microphthalmia, Isolated 8
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia OMIM:615113
Lymphatic Malformation 8
Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Pleural effusion, Generalized edema OMIM:618773
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Elevated circulating creatine kinase concentration, Sudden cardiac death, First degree atrioventr... OMIM:310300
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Lymphatic Malformation 3
Lymphedema OMIM:613480
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia OMIM:613885
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia OMIM:618782
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
White Sponge Nevus 2
Edema OMIM:615785
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hypoalbuminemia, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Refractory Celiac Disease
Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia ORPHA:398063
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Peripheral Cone Dystrophy
Pallor OMIM:609021
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Partington Syndrome
Macroorchidism ORPHA:94083
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Citrullinemia Type Ii
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperlipidem... ORPHA:247585
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Oculocerebrocutaneous Syndrome
Microphthalmia, Orbital encephalocele, Anophthalmia OMIM:164180
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism OMIM:300238
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave inversion, Reduced left ve... OMIM:608751
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Congenital Left Ventricular Aneurysm
Congestive heart failure, Arrhythmia, Abnormal ST segment, Abnormal T-wave ORPHA:1055
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Right ventricular cardiomyopathy, Prolonged QRS complex, Cardiac arrest, Sudden cardiac death, Ve... OMIM:609040
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated circulating creatine kinase concentration, Congestive heart failure, Dilated cardiomyopa... OMIM:615895
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asymmetric septal hypert... OMIM:608758
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Abnormal EKG, Pulmonic stenosis OMIM:178650
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia... OMIM:603553
Breath-Holding Spells
Pallor OMIM:607578
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Primary Intestinal Lymphangiectasia
Hypoproteinemia, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia ORPHA:90362
Lymphatic Malformation 10
Lymphedema OMIM:619369
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Hyperpepsinogenemia I, Cardiomyopathy, B... OMIM:615745
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Dermatitis, Atopic
Dry skin, Pallor, Facial erythema OMIM:603165
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Glycogen Storage Disease Xv
ST segment elevation, Right bundle branch block, Paroxysmal ventricular tachycardia, T-wave inver... OMIM:613507
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Lymphatic Malformation 7
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... OMIM:617300
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Hydrolethalus
Microphthalmia, Anophthalmia, Anencephaly, Polyhydramnios ORPHA:2189
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypoproteinemia, Hypocalcemia OMIM:235255
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Trisomy 13
Anophthalmia, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Brugada Syndrome 4
Shortened QT interval, Syncope, Atrial fibrillation OMIM:611876
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
ST segment elevation, Ventricular tachycardia, Right bundle branch block, Cardiomyopathy, Abnorma... ORPHA:263297
Omenn Syndrome
Hypoproteinemia OMIM:603554
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida ORPHA:1104
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Sudden cardiac death, Congestive heart failure, Permanent atrial fibrillatio... OMIM:617047
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypoproteinemia, Hypocalcemia ORPHA:1655
Hemoglobin D Disease
Pallor ORPHA:90039
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Elevated circulating creatine kinase conc... OMIM:255160
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo... ORPHA:75565
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Trisomy 1Q
Increased nuchal translucency, Anophthalmia, Hydrops fetalis, Polyhydramnios ORPHA:261344
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Chédiak-Higashi Syndrome
Hyponatremia, Hypertriglyceridemia, Epistaxis, Increased circulating ferritin concentration, Hypo... ORPHA:167
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Myocardial infarction, Hypovolemia, Elevated diastolic blo... ORPHA:90041
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:2470
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Tachycardia, Angina pect... ORPHA:2041
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Increased circulating NT-proBNP concentr... ORPHA:57777
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Intracranial hemorrhage, Hypertension, Hypokalemia, Palpitations, Abnormal T-wave, Dec... ORPHA:231625
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilat... OMIM:310200
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Decreased serum testosterone concentration, Small scrotu... OMIM:278850
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Retinitis Pigmentosa 51
Pallor OMIM:613464
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Peripartum Cardiomyopathy
Tachycardia, Right ventricular failure, Cardiogenic shock, Congestive heart failure, Dilated card... ORPHA:563
Danon Disease
Wolff-Parkinson-White syndrome, Elevated circulating creatine kinase concentration, Congestive he... OMIM:300257
Lymphangiectasia, Pulmonary, Congenital
Palpebral edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Chylous ascites,... OMIM:265300
Myelofibrosis
Pallor, Purpura OMIM:254450
Evans Syndrome
Pallor, Petechiae ORPHA:1959
Pierson Syndrome
Hypertension, Hypoproteinemia, Retinal hemorrhage OMIM:609049
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Vacterl With Hydrocephalus
Anophthalmia, Spina bifida, Polyhydramnios, Microphthalmia, Intrauterine growth retardation ORPHA:3412
Irida Syndrome
Pallor ORPHA:209981
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Complete Atrioventricular Septal Defect
Abnormal EKG, Tachycardia, Left-to-right shunt, Right ventricular failure, Third heart sound, Con... ORPHA:1329
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Abnormally loud pulmonic component of the second heart s... ORPHA:99106
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Loeffler Endocarditis
Aortic regurgitation, Pericarditis, Left ventricular diastolic dysfunction, Congestive heart fail... ORPHA:75566
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Naxos Disease
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:601214
Dravet Syndrome
Pallor ORPHA:33069
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Congenital Heart Block
Pallor ORPHA:60041
Primary Myelofibrosis
Ecchymosis, Pallor, Petechiae, Purpura ORPHA:824
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atrial fibrill... ORPHA:99103
Renal Cysts And Diabetes Syndrome
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Exocrine pancreatic insuffi... OMIM:137920
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... OMIM:193300
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Increased QRS voltage, Heart murmur, Abnormal left ventric... ORPHA:3093
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Hemophagocytic Syndrome Associated With An Infection
Increased circulating ferritin concentration, Hyperproteinemia, Hypertriglyceridemia ORPHA:158048
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Retinitis Pigmentosa 75
Pallor OMIM:617023
Multiple Myeloma
Hyperproteinemia, Elevated circulating creatinine concentration, Hypercalcemia ORPHA:29073
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Increased circulating NT-proBNP concentration, Jaw cla... ORPHA:85443
Cold Agglutinin Disease
Pallor ORPHA:56425
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion ORPHA:2526
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch... ORPHA:90065
Elliptocytosis 1
Pallor OMIM:611804
Leptospirosis
Pericarditis, First degree atrioventricular block, Retinal hemorrhage, Subconjunctival hemorrhage... ORPHA:509
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Right bundle branch block, Abnormal EKG, Reduced left ventricular ejection fraction, Elevated cir... ORPHA:268
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Anophthalmia, Bilateral microphthalmos OMIM:601186
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Anemia, Hypochromic Microcytic, With Iron Overload 2
Pallor OMIM:615234
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated circulating creatine kinase concentration, Elevated... ORPHA:480864
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Lymphatic Malformation 6
Genital edema, Nonimmune hydrops fetalis, Polyhydramnios, Edema, Facial edema, Periorbital edema,... OMIM:616843
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cone-Rod Dystrophy 8
Pallor OMIM:605549
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Tay-Sachs Disease
Pallor OMIM:272800
Rheumatic Fever
Erythema, Pallor ORPHA:3099
Meckel Syndrome
Encephalocele, Anophthalmia, Anencephaly, Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohy... ORPHA:564
Fibular Hemimelia
Anophthalmia, Spina bifida ORPHA:93323
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated circulating creatinine concentration, Syncope, Or... ORPHA:230
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... ORPHA:892
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Holoprosencephaly
Encephalocele, Anophthalmia, Spinal dysraphism, Branchial anomaly, Microphthalmia ORPHA:2162
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Elevated circulating C-reactive protein concentration, Pulmonary embolism, Right v... ORPHA:70591
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
American Trypanosomiasis
Pallor ORPHA:3386
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Senior-Loken Syndrome 8
Pallor OMIM:616307
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Childhood Absence Epilepsy
Pallor ORPHA:64280
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Letterer-Siwe Disease
Pallor OMIM:246400
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Floating-Harbor Syndrome
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele OMIM:136140
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Joubert Syndrome 21
Encephalocele, Occipital encephalocele, Anophthalmia OMIM:615636
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Congenitally Uncorrected Transposition Of The Great Arteries
Tachycardia, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract obstruction,... ORPHA:860
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Abnormality of the male genitalia... ORPHA:228123
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sepsis In Premature Infants
Pallor, Petechiae, Purpura ORPHA:90051
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Scorpion Envenomation
Bundle branch block, Tachycardia, Increased circulating NT-proBNP concentration, Cardiac conducti... ORPHA:466677
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Waldenström Macroglobulinemia
Pallor, Purpura ORPHA:33226
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Pallor ORPHA:300298
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Epididymal cyst, Varicocele ORPHA:2044
Charge Syndrome
Microphthalmia, Anophthalmia, Polyhydramnios, Intrauterine growth retardation ORPHA:138
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperpho... ORPHA:466650
Aregenerative Anemia
Pallor ORPHA:101096
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Adenohypophysitis
Pallor ORPHA:95512
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Panhypophysitis
Pallor ORPHA:95513
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Fraser Syndrome 1
Encephalocele, Myelomeningocele, Anophthalmia, Bilateral microphthalmos OMIM:219000
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Pituitary Apoplexy
Pallor ORPHA:95613
Cocaine Intoxication
Prolonged QT interval, Tachycardia, Prolonged QRS complex, Elevated circulating creatine kinase c... ORPHA:90068
Beta-Thalassemia Major
Pallor, Skin ulcer ORPHA:231214
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Prolactinoma
Pallor ORPHA:2965
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Angina pectoris, Tricuspid stenosis, Congestive heart failure, Ven... ORPHA:1686
Focal Dermal Hypoplasia
Anophthalmia, Myelomeningocele, Umbilical hernia, Aniridia, Microphthalmia, Spina bifida occulta OMIM:305600
Fumarase Deficiency
Pallor OMIM:606812
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Congenital Sialidosis Type 2
Abnormal EKG, Telangiectasia ORPHA:93400
Fraser Syndrome
Encephalocele, Anophthalmia, Myelomeningocele, Umbilical hernia, Microphthalmia ORPHA:2052
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Umbilical hernia OMIM:300166
Gitelman Syndrome
Prolonged QT interval, Raynaud phenomenon, Hypomagnesemia, Hypermagnesemia, Low-to-normal blood p... ORPHA:358
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Dextrocardia
Abnormal EKG, T-wave inversion ORPHA:1666
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Noonan Syndrome 1
Male infertility, Cryptorchidism, Hypogonadism, Hypospadias OMIM:163950
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Charge Syndrome
Anophthalmia, Polyhydramnios, Unilateral microphthalmos, Umbilical hernia, Microphthalmia OMIM:214800
Absence Of The Pulmonary Artery
Abnormal EKG, Atrial flutter, Atrial fibrillation, Tachycardia, Congestive heart failure, Reduced... ORPHA:980
Microphthalmia With Limb Anomalies
Microphthalmia, True anophthalmia ORPHA:1106
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Diamond-Blackfan Anemia 1
Spina bifida occulta, Pallor OMIM:105650
Esophageal Atresia
Pallor ORPHA:1199
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Branchiooculofacial Syndrome
Microphthalmia, Branchial anomaly, Anophthalmia, Intrauterine growth retardation OMIM:113620
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Male ... OMIM:219800
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Degcags Syndrome
Pallor OMIM:619488
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Cystic Fibrosis
Male infertility, Pancreatitis, Exocrine pancreatic insufficiency OMIM:219700
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Diamond-Blackfan Anemia
Pallor ORPHA:124
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Craniofacial Microsomia 1
Microphthalmia, Occipital encephalocele, Anophthalmia, Branchial anomaly OMIM:164210
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
African Trypanosomiasis
Abnormal EKG, Pericarditis, Myocarditis, Congestive heart failure, Second degree atrioventricular... ORPHA:3385
Friedreich Ataxia 2
Abnormal EKG, Concentric hypertrophic cardiomyopathy, Congestive heart failure OMIM:601992
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia ORPHA:3464
Goodpasture Syndrome
Pallor OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly
Pallor ORPHA:99125

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 dysplasia Ggnbp2tm1b(KOMP)Wtsi HOM Early adult
Epididymis - MPATH pathological process term aspermia Ggnbp2tm1b(KOMP)Wtsi HOM Early adult
Testis - MPATH pathological process term spermatogenesis defect Ggnbp2tm1b(KOMP)Wtsi 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 Ggnbp2.

No publications found that use IMPC mice or data for Ggnbp2.

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
Ggnbp2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Ggnbp2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Ggnbp2tm1b(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Mice, Tissue

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