banner
Genes Phenotypes Help, News, Blog

Gene: Ggnbp2 MGI:2387356

Log in to follow

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
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 1.91×10-05
edema Ggnbp2tm1b(KOMP)Wtsi HET E15.5 0.00
preweaning lethality, incomplete penetrance Ggnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
edema Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
decreased circulating total protein level Ggnbp2tm1b(KOMP)Wtsi HET Early adult 3.88×10-05
anophthalmia Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
abnormal embryo size 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 1.56% (1 of 64)
brain 1.17% (6 of 511)
central nervous system ganglion 1.37% (1 of 73)
ear 0.2% (1 of 511)
embryo 0.39% (2 of 512)
eye 0.2% (1 of 511)
footplate 0.2% (1 of 511)
forebrain 0.2% (1 of 511)
forelimb 0.2% (1 of 511)
gut 1.69% (1 of 59)
handplate 0.2% (1 of 511)
head 0.98% (5 of 511)
heart 0.2% (1 of 511)
hindbrain 1.17% (6 of 511)
hindlimb 0.2% (1 of 511)
liver 0.2% (1 of 506)
lung 0.2% (1 of 506)
mandibular process 0.2% (1 of 511)
maxillary process 0.2% (1 of 511)
midbrain 0.2% (1 of 511)
nose 1.28% (1 of 78)
oral cavity 0.2% (1 of 506)
skeleton 1.28% (1 of 78)
skin 0.2% (1 of 511)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 511)
tail somite group 0.2% (1 of 511)
trachea 1.69% (1 of 59)
urinary system 1.69% (1 of 59)

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 Dorso Ventral Orientation

12 Images

View images
X-ray

XRay Images Whole Body Dorso Ventral

12 Images

View images
Gross Morphology Embryo E14.5-E15.5

Images

6 Images

View images
Histopathology

Images

8 Images

View images
X-ray

XRay Images Skull Lateral Orientation

12 Images

View images
Embryo LacZ

LacZ images wholemount

16 Images

View images
Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

View images
Eye Morphology

Images Ophthalmoscopy

9 Images

View images
X-ray

XRay Images Whole Body Lateral Orientation

12 Images

View images
Gross Pathology and Tissue Collection

Images

12 Images

View images
Eye Morphology

Images Slit Lamp

2 Images

View images
Combined SHIRPA and Dysmorphology

Images

1 Images

View images

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
Isochromosomy Yp
Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ... ORPHA:98797
Partial Chromosome Y Deletion
Abnormal spermatogenesis, Decreased testicular size, Oligospermia, Male infertility, Cryptorchidi... ORPHA:1646
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size OMIM:619145
Spermatogenic Failure 25
Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert... OMIM:617960
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi... OMIM:619528
Spermatogenic Failure 30
Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism OMIM:618110
Spermatogenic Failure 32
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia OMIM:619831
Isochromosomy Yq
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Primary gonadal insuffici... ORPHA:98798
Lipedema
Edema OMIM:614103
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s... ORPHA:399808
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia OMIM:619108
Spermatogenic Failure 62
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619878
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia OMIM:619937
Spermatogenic Failure 12
Abnormal male germ cell morphology, Infertility, Azoospermia OMIM:615413
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe... OMIM:618341
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Abnormal spermatogenesis, Obstructive azoospermia, Decreased testicular size, Azoospermia, Increa... ORPHA:399805
Spermatogenic Failure 63
Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 22
Cryptozoospermia, Male infertility, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 70
Oligospermia, Reduced sperm motility, Azoospermia, Male infertility OMIM:619828
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Spermatogenic Failure 65
Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m... OMIM:619712
Spermatogenic Failure 72
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular... OMIM:619867
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:618153
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Male Infertility Due To Acephalic Spermatozoa
Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia... ORPHA:529970
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 37
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618429
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:617576
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:618152
Spermatogenic Failure 46
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai... OMIM:619095
Spermatogenic Failure 27
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:617965
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 11
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility OMIM:614822
Spermatogenic Failure 78
Microcephalic sperm head, Male infertility, Tapered sperm head OMIM:620170
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 54
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,... OMIM:619379
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 43
Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 49
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:301059
Spermatogenic Failure 56
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:619515
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Spermatogenic Failure 8
Oligospermia, Cryptozoospermia, Azoospermia OMIM:613957
Spermatogenic Failure 6
Globozoospermia, Male infertility, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure 40
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell... OMIM:618664
Spermatogenic Failure 76
Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh... OMIM:620084
Angioedema, Hereditary, 6
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619363
Deafness-Infertility Syndrome
Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit... OMIM:611102
Spermatogenic Failure 39
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe... OMIM:618643
Spermatogenic Failure 47
Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:619102
Pentosuria
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level ORPHA:2843
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 58
Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog... OMIM:619585
Spermatogenic Failure 51
Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s... OMIM:619177
Spermatogenic Failure 42
Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf... OMIM:618745
Lymphatic Malformation 11
Pedal edema, Lymphedema OMIM:619401
Spermatogenic Failure 77
Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn... OMIM:620103
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm OMIM:618670
Ring Chromosome Y Syndrome
Urogenital sinus anomaly, Ambiguous genitalia, Gonadoblastoma, Abnormal spermatogenesis, Ambiguou... ORPHA:261529
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Spermatogenic Failure 64
Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology OMIM:619696
Spermatogenic Failure 5
Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head OMIM:243060
Spermatogenic Failure 1
Oligospermia, Cryptozoospermia, Male infertility OMIM:258150
Spinocerebellar Ataxia 32
Testicular atrophy, Infertility, Azoospermia OMIM:613909
Azoospermia, Obstructive, With Nephrolithiasis
Spermatocele, Male infertility, Obstructive azoospermia OMIM:301060
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 7
Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm OMIM:612997
Spermatogenic Failure 16
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617187
Spermatogenic Failure 44
Male infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:619044
Spermatogenic Failure 24
Tapered sperm head, Short sperm flagella, Reduced sperm motility, Microcephalic sperm head, Coile... OMIM:617959
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Spermatogenic Failure 21
Infertility, Reduced sperm motility, Acephalic spermatozoa OMIM:617644
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu... OMIM:229070
Spermatogenic Failure 2
Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te... OMIM:108420
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 75
Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,... OMIM:619949
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Elevated circulating creatine kinase concentration OMIM:309930
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul... OMIM:616950
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:606685
Muscular Dystrophy, Becker Type
Cardiomyopathy, Abnormal EKG, Arrhythmia, Elevated circulating creatine kinase concentration OMIM:300376
Spermatogenic Failure 28
Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated... OMIM:618086
Isolated Follicle Stimulating Hormone Deficiency
Female hypogonadism, Gonadotropin deficiency, Decreased serum estradiol, Decreased female libido,... ORPHA:52901
Lymphatic Malformation 2
Lymphedema OMIM:611944
Spermatogenic Failure 38
Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c... OMIM:618433
Hypogonadism, Male
Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis OMIM:241100
Premature Ovarian Failure 10
Hypothyroidism, Premature ovarian insufficiency, Decreased testicular size, Azoospermia, Hypoplas... OMIM:612885
Familial Male-Limited Precocious Puberty
Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility ORPHA:3000
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t... OMIM:614837
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Morbid Obesity And Spermatogenic Failure
Oligospermia, Infertility, Azoospermia, Type II diabetes mellitus OMIM:615703
Androgen Insensitivity, Partial
Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro... OMIM:312300
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal spermatogenesis, Polycystic ovaries, Oocyte arrest at metaphase I, Female infertility, A... ORPHA:488191
Angioedema, Hereditary, 5
Angioedema, Facial edema, Edema of the dorsum of hands OMIM:619361
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Increased heart rate variability, Syncope, Bradycardia OMIM:614896
Spermatogenic Failure 14
Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ... OMIM:615842
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Testicular microlithiasis, Abnormal spermatogenesis, Secondary amenorrhea, Decreased circulating ... OMIM:228300
Spermatogenic Failure 17
Male infertility OMIM:617214
Atrial Fibrillation, Familial, 11
Prolonged QRS complex, Atrial fibrillation, Reduced left ventricular ejection fraction, Prolonged... OMIM:614049
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s... OMIM:614897
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Ventricular ar... OMIM:610193
Leukoencephalopathy With Dystonia And Motor Neuropathy
Azoospermia, Hypergonadotropic hypogonadism OMIM:613724
Hydrocephalus-Obesity-Hypogonadism Syndrome
Abnormality of the hypothalamus-pituitary axis, Azoospermia, Hypergonadotropic hypogonadism ORPHA:2183
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
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise ORPHA:206599
Adrenal Hypoplasia, Congenital
Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir... OMIM:300200
Long Qt Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Notched... OMIM:613688
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus ORPHA:2578
Spermatogenic Failure, X-Linked, 4
Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone... OMIM:301077
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Ele... OMIM:604765
Cardiomyopathy, Dilated, 3B
Increased circulating creatine kinase MB isoform, Dilated cardiomyopathy, Increased left ventricu... OMIM:302045
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Long Qt Syndrome 10
Sudden cardiac death, T-wave alternans, Prolonged QT interval, Atrioventricular block, Atrial fib... OMIM:611819
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
Kennedy Disease
Decreased fertility, Testicular atrophy, Erectile dysfunction, Type II diabetes mellitus ORPHA:481
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac arrest, Wolff-Parkinson-White ... ORPHA:45453
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo... OMIM:308700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula... ORPHA:90797
Maternal Uniparental Disomy Of Chromosome X
Gonadal tissue inappropriate for external genitalia or chromosomal sex, Ambiguous genitalia, Azoo... ORPHA:261519
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia OMIM:611038
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia, Neural tube defect OMIM:600776
46,Xy Partial Gonadal Dysgenesis
Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Primary amenorrhea, Female hypogonadism, Impotence, Secondary amenorrhea, Decreased testicular si... ORPHA:432
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Azoospermia, Oligospermia, Hypospadias, Male ... ORPHA:8
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De... ORPHA:280679
Brugada Syndrome
Supraventricular tachycardia, Right bundle branch block, Trifascicular block, Cardiac arrest, Ven... ORPHA:130
Brugada Syndrome 9
Presyncope, Palpitations, Prolonged QT interval, ST segment elevation OMIM:616399
Long Qt Syndrome 9
Cardiac arrest, Ventricular arrhythmia, Syncope, Prolonged QT interval, Abnormal U wave, Sinus br... OMIM:611818
Long Qt Syndrome 14
T-wave alternans, Cardiac arrest, Prolonged QT interval, 2:1 atrioventricular block, Prolonged QT... OMIM:616247
48,Xyyy Syndrome
Male hypogonadism, Primary gonadal insufficiency, Azoospermia ORPHA:99329
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
49,Xyyyy Syndrome
Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre... ORPHA:99330
Sick Sinus Syndrome 4
Sinoatrial block, Syncope, Abnormal PR interval, Abnormal QRS complex, Chronotropic incompetence,... OMIM:619464
Long Qt Syndrome 13
Torsade de pointes, Pulmonary embolism, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval OMIM:220400
Long Qt Syndrome 6
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Prolonged QT interval, Prolong... OMIM:613693
Autosomal Recessive Spastic Paraplegia Type 46
Decreased testicular size, Infertility, Reduced sperm motility, Abnormal sperm head morphology, A... ORPHA:320391
Wolff-Parkinson-White Syndrome
Sudden cardiac death, Wolff-Parkinson-White syndrome, Syncope, Ventricular preexcitation with mul... OMIM:194200
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Atrial Fibrillation, Familial, 9
Permanent atrial fibrillation, Syncope, Palpitations, Prolonged QTc interval, Paroxysmal atrial f... OMIM:613980
Diethylstilbestrol Syndrome
Decreased fertility in females, Abnormal testis morphology, Premature ovarian insufficiency, Vagi... ORPHA:1916
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Elevated circulating creatine kinase concentration ORPHA:88635
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Increased circulating free fatty acid level, Dilated cardiomyopathy, Elevated circulating creatin... ORPHA:26793
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased testicular size, Azoospermia, Hypergonadotropic hypogonadism, Decreased response to gro... OMIM:300845
Muscular Dystrophy, Progressive Pectorodorsal
Arrhythmia, Elevated circulating creatine kinase concentration OMIM:310095
Long Qt Syndrome 1
Sudden cardiac death, Torsade de pointes, Syncope, Prolonged QT interval, Prolonged QTc interval,... OMIM:192500
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Hemochromatosis, Type 1
Impotence, Azoospermia, Testicular atrophy, Diabetes mellitus, Hypogonadotropic hypogonadism, Ame... OMIM:235200
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,... ORPHA:90791
Anencephaly 2
Anencephaly, Anophthalmia OMIM:619452
Brugada Syndrome 3
Sudden cardiac death, Ventricular arrhythmia, Syncope, J wave, Shortened QT interval, Atrial fibr... OMIM:611875
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
Long Qt Syndrome 11
Syncope, Prolonged QTc interval OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre... OMIM:604400
Atrial Fibrillation, Familial, 3
Sudden cardiac death, Permanent atrial fibrillation, Syncope, Prolonged QTc interval, Atrial fibr... OMIM:607554
Ring Chromosome 21 Syndrome
Diabetes insipidus, Infertility, Azoospermia, Amenorrhea ORPHA:1445
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Immunodeficiency 43
Decreased circulating beta-2-microglobulin level, Hypoproteinemia, Hypoalbuminemia OMIM:241600
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
Ciliary Dyskinesia, Primary, 40
Infertility, Absent outer dynein arms, Azoospermia OMIM:618300
Sick Sinus Syndrome 1
Ventricular escape rhythm, Prolonged QT interval, Atrioventricular block, Absent P wave, Sick sin... OMIM:608567
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Brugada Syndrome 7
Prolonged P wave, Permanent atrial fibrillation, ST segment elevation, Atrial flutter, Paroxysmal... OMIM:613120
Anemia, Hypochromic Microcytic, With Iron Overload 2
Azoospermia, Hypogonadism OMIM:615234
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ... OMIM:611528
Congenital Analbuminemia
Low pulse pressure, Increased alpha-globulin, Hypoproteinemia, Hyperlipidemia, Hypercholesterolem... ORPHA:86816
Testicular Regression Syndrome
Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit... ORPHA:983
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Reduced left ventricular ejection fraction, Abnormal EKG, Paroxysma... ORPHA:45452
Romano-Ward Syndrome
Sudden cardiac death, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, S... ORPHA:101016
Dengue Fever
Hypotension, Cerebral hemorrhage, Epistaxis, Hypoproteinemia, Gastrointestinal hemorrhage ORPHA:99828
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Elevated circulating cre... OMIM:615184
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
48,Xxyy Syndrome
Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of penis, Azoosperm... ORPHA:10
46,Xx Sex Reversal 1
Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula... OMIM:400045
Androgen Insensitivity Syndrome
Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male infertility, Male pse... ORPHA:754
Progressive Familial Heart Block, Type Ib
Right bundle branch block, Syncope, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia OMIM:256300
46,Xx Sex Reversal 2
Sex reversal, Hypoplasia of the vagina, Bifid scrotum, True hermaphroditism, Azoospermia, Decreas... OMIM:278850
Cardiomyopathy, Dilated, 1D
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Dilat... OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Paroxysmal ventricular tachycardia,... OMIM:614021
Nathalie Syndrome
Abnormal EKG OMIM:255990
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Lymphatic Malformation 8
Polyhydramnios, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, Generalized edema OMIM:618773
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Cardiomyopathy, Dilated, 1Nn
Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc... OMIM:615916
Ménétrier Disease
Hypoproteinemia, Gastrointestinal hemorrhage, Hypoalbuminemia ORPHA:2494
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric septal hypertrophy,... OMIM:600858
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased total bilirubin, Increased VLDL cholesterol concentration, Increased LDL cholesterol co... OMIM:267700
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Right bundle branch block, Elevated circulating creatine kinase concentration OMIM:613158
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Sudden cardiac death, Elevated circulating creatine kinase concentration, Palpitations, Atriovent... OMIM:310300
Meckel Syndrome, Type 8
Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, Occipital encephalocele OMIM:613885
Lymphatic Malformation 3
Lymphedema OMIM:613480
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Bradycardia, Prolonged QTc interval OMIM:618782
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Cardiac arrest, Syncope, Shock, Premature ventricular contra... OMIM:615441
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Torsade de pointes, Syncope, Premature ventricular contraction, Prolonged Q... OMIM:612347
46,Xy Disorder Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Perineal hypospadias, Bifid s... ORPHA:753
Brugada Syndrome 6
Cardiac arrest, Ventricular fibrillation, ST segment elevation OMIM:613119
Short Qt Syndrome 1
Sudden cardiac death, Cardiac arrest, Syncope, Palpitations, Shortened QT interval, Paroxysmal at... OMIM:609620
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia OMIM:226300
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Testicular ad... ORPHA:361
Cardiac Arrhythmia, Ankyrin-B-Related
Sudden cardiac death, Syncope, Prolonged QT interval, Atrial fibrillation, Sinus bradycardia OMIM:600919
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Primary amenorrhea, Primary gonadal insufficiency, Impotence, Aplasia of the ovary, Decreased ser... ORPHA:2232
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Long Qt Syndrome 12
Torsade de pointes, Syncope, Prolonged QTc interval, Ventricular fibrillation OMIM:612955
White Sponge Nevus 2
Edema OMIM:615785
Refractory Celiac Disease
Hypophosphatemia, Hypoproteinemia, Hypocalcemia, Hypomagnesemia, Hypoalbuminemia ORPHA:398063
Familial Short Qt Syndrome
Sudden cardiac death, Ventricular arrhythmia, Syncope, Ventricular fibrillation, Palpitations, At... ORPHA:51083
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Atrial Standstill
Right bundle branch block, Mobitz I atrioventricular block, Ischemic stroke, Reduced left ventric... ORPHA:1344
Peripheral Cone Dystrophy
Pallor OMIM:609021
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Long Qt Syndrome 5
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular fibrillation, Prolonged QTc interv... OMIM:613695
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea... OMIM:308750
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypothyroidism, Hypogonadism, Adrenal insufficiency, Azoospermia, Abnormality of the hypothalamus... ORPHA:300298
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he... OMIM:616117
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Oligospermia, Cryptorchidism OMIM:314300
Citrullinemia Type Ii
Acute hyperammonemia, Hypoproteinemia, Decreased HDL cholesterol concentration, Hyperlipidemia, H... ORPHA:247585
Brugada Syndrome 5
Bundle branch block, Ventricular fibrillation, ST segment elevation OMIM:612838
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryp... ORPHA:1772
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia, Orbital encephalocele OMIM:164180
Attrv122I Amyloidosis
Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Angina pect... ORPHA:85451
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypothyroidism, Ambiguous genitalia, Infertility, Male pseudohermaphroditism, Cryptorchidism, Hyp... ORPHA:752
48,Xxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... ORPHA:96263
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Abnormal ST segment, Congestive heart failure, Arrhythmia ORPHA:1055
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w... OMIM:608751
Functioning Gonadotropic Adenoma
Impotence, Decreased female libido, Anterior hypopituitarism, Oligospermia, Increased circulating... ORPHA:91348
Complete Androgen Insensitivity Syndrome
Increased serum estradiol, Increased serum testosterone level, Abnormal circulating follicle-stim... ORPHA:99429
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Hypoplasia of penis, Cryptorchidism, Hypogonadotropic hypogonadism, Ab... ORPHA:251066
Short Qt Syndrome 7
Sudden cardiac death, Cardiac arrest, Syncope, Shortened QT interval, Ventricular fibrillation OMIM:620231
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Sudden cardiac death, Right ventricular cardiomyopathy, Cardiac arrest, Syncope, Epsilon wave, Pr... OMIM:609040
49,Xxxxy Syndrome
Hypogonadism, Decreased testicular size, Type II diabetes mellitus, Infertility, Hypoplasia of pe... ORPHA:96264
Atrial Fibrillation, Familial, 7
Permanent atrial fibrillation, Premature atrial contractions, Palpitations, Prolonged PR interval... OMIM:612240
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation OMIM:615378
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kinase concentrat... OMIM:615895
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin... ORPHA:90793
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased total bilirubin, Increased circulating ferritin concentration, Hypoproteinemia, Hyponat... OMIM:603553
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,... OMIM:608758
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Breath-Holding Spells
Pallor OMIM:607578
Short Qt Syndrome 2
Sudden cardiac death, Syncope, Ventricular fibrillation, Shortened QT interval, Bradycardia, Atri... OMIM:609621
Atrial Standstill 2
Hyperpepsinogenemia I, Atrial standstill, Atrial cardiomyopathy, Palpitations, Atrial arrhythmia,... OMIM:615745
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypoalbuminemia ORPHA:90362
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Cardiomyopathy, Familial Hypertrophic, 13
Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca... OMIM:613243
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Elevated pulmonary artery pressure, Reduced l... ORPHA:217607
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Leydig Cell Hypoplasia
Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea... ORPHA:755
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Glycogen Storage Disease Xv
Right bundle branch block, T-wave inversion, Paroxysmal ventricular tachycardia, ST segment eleva... OMIM:613507
Long Qt Syndrome 8
Sudden cardiac death, Syncope, Ventricular fibrillation, Aborted sudden cardiac death, Prolonged ... OMIM:618447
Dermatitis, Atopic
Facial erythema, Dry skin, Pallor OMIM:603165
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular ectopy, Cardiac arrest, Syncope, Ventricular fib... OMIM:616249
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Lymphatic Malformation 10
Lymphedema OMIM:619369
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Choanal Atresia And Lymphedema
Pericardial effusion, Lymphedema OMIM:613611
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Optic Atrophy 1
Pallor OMIM:165500
Retinitis Pigmentosa 27
Pallor OMIM:613750
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Tako-Tsubo Cardiomyopathy
Hypotension, Ventricular arrhythmia, Cardiogenic shock, Angina pectoris, Palpitations, Prolonged ... ORPHA:66529
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Erythrocyte Lactate Transporter Defect
Elevated circulating creatine kinase concentration OMIM:245340
Long Qt Syndrome 3
Sudden cardiac death, Torsade de pointes, Syncope, Ventricular flutter, Ventricular tachycardia, ... OMIM:603830
Myotonic Dystrophy 1
Testicular atrophy, Cholelithiasis, Hypogonadism OMIM:160900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Bone Marrow Failure Syndrome 5
Testicular atrophy, Hypogonadism OMIM:618165
Hydrolethalus
Polyhydramnios, Anophthalmia, Arrhinencephaly, Anencephaly, Microphthalmia ORPHA:2189
Lymphatic Malformation 7
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... OMIM:617300
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Cardiogenic Shock
Hypotension, Impaired myocardial contractility, Increased pulmonary capillary wedge pressure, Abn... ORPHA:97292
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
H Syndrome
Hypogonadism, Decreased testicular size, Azoospermia, Diabetes mellitus, Delayed puberty, Micrope... ORPHA:168569
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
46,Xx Ovotesticular Disorder Of Sex Development
Decreased fertility, Urogenital sinus anomaly, Ambiguous genitalia, Bifid scrotum, Abnormal male ... ORPHA:2138
Trisomy 13
Hydrops fetalis, Anophthalmia, Aplasia/Hypoplasia of the iris, Microphthalmia, Intrauterine growt... ORPHA:3378
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Abnormal circulating creatine kinase concentration, Right bundle branch block, T-wave inversion, ... ORPHA:263297
Omenn Syndrome
Hypoproteinemia OMIM:603554
Sick Sinus Syndrome 2
Sudden cardiac death, Torsade de pointes, Cardiac arrest, Syncope, Aortic regurgitation, Atrial f... OMIM:163800
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Anterior h... ORPHA:91351
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Classic Galactosemia
Decreased fertility in females, Primary amenorrhea, Secondary amenorrhea, Premature ovarian insuf... ORPHA:79239
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Bloom Syndrome
Decreased fertility in females, Type II diabetes mellitus, Azoospermia, Cryptorchidism OMIM:210900
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cardiomyopathy, Familial Hypertrophic, 26
Sudden cardiac death, Permanent atrial fibrillation, Congestive heart failure, Hypertrophic cardi... OMIM:617047
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Hemoglobin D Disease
Pallor ORPHA:90039
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Atrial Tachyarrhythmia With Short Pr Interval
Shortened PR interval, Permanent atrial fibrillation, Paroxysmal atrial tachycardia, Paroxysmal a... OMIM:108950
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Aromatase Deficiency
Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes mellitus, Female pseud... ORPHA:91
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Tropical Endomyocardial Fibrosis
Systolic heart murmur, Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Cardio... ORPHA:75565
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Right bundle branch block, Sinus tachycardia, Elevated jugular venous press... OMIM:255160
Lead Poisoning
Decreased female libido, Infertility, Decreased circulating osteocalcin level, Abnormality of the... ORPHA:330015
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Symptomatic Form Of Hemochromatosis Type 1
Hypothyroidism, Infertility, Erectile dysfunction, Testicular atrophy, Diabetes mellitus, Decreas... ORPHA:465508
Trisomy 1Q
Polyhydramnios, Hydrops fetalis, Anophthalmia, Increased nuchal translucency ORPHA:261344
Chédiak-Higashi Syndrome
Epistaxis, Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Hypertrig... ORPHA:167
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Pallor OMIM:613561
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm OMIM:614874
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu... ORPHA:786
Wolfram Syndrome 1
Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus OMIM:222300
Coronary Arterial Fistula
Pulmonary arterial hypertension, Systolic heart murmur, Abnormal EKG, Elevated jugular venous pre... ORPHA:2041
Matthew-Wood Syndrome
Microphthalmia, Intrauterine growth retardation, Anophthalmia ORPHA:2470
Gaisböck Syndrome
Hyperuricemia, Elevated diastolic blood pressure, Hypovolemia, Increased circulating renin level,... ORPHA:90041
Cirrhotic Cardiomyopathy
Elevated pulmonary artery pressure, Abnormal circulating A-type atrial natriuretic peptide concen... ORPHA:57777
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Yellow Nail Syndrome
Predominantly lower limb lymphedema, Lymphedema OMIM:153300
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Abnormal T-wave, Decreased circulating renin level, Hypokalemia, Intracranial hemorrhage, Hyperte... ORPHA:231625
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Ciliary Dyskinesia, Primary, 14
Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe... OMIM:613807
Histiocytosis-Lymphadenopathy Plus Syndrome
Pancreatic hypoplasia, Decreased response to growth hormone stimulation test, Azoospermia, Type I... OMIM:602782
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Aarskog-Scott Syndrome
Shawl scrotum, Bilateral cryptorchidism, Decreased serum testosterone concentration, Testicular a... OMIM:305400
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Elevated circulating creatine kin... OMIM:310200
Hereditary Amyloidosis With Primary Renal Involvement
Primary testicular failure, Hypogonadism, Abnormal testis morphology, Oligospermia, Male infertility ORPHA:85450
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Myotonic Dystrophy 2
Oligospermia, Elevated circulating follicle stimulating hormone level, Hypogonadism, Type II diab... OMIM:602668
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Microphthalmia, Syndromic 5
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610125
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Retinitis Pigmentosa 51
Pallor OMIM:613464
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Severely reduced left ventricular ej... OMIM:300257
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Pierson Syndrome
Retinal hemorrhage, Hypoproteinemia, Hypertension OMIM:609049
Myelofibrosis
Purpura, Pallor OMIM:254450
Peripartum Cardiomyopathy
Pulmonary arterial hypertension, Abnormal T-wave, Reduced left ventricular ejection fraction, Hea... ORPHA:563
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Pedal edema, Nonimmune hydrops fetalis, Pleural effusion, Edema, Chylous ascites,... OMIM:265300
Renal Cysts And Diabetes Syndrome
Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Epididyma... OMIM:137920
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis ORPHA:2239
Vacterl With Hydrocephalus
Polyhydramnios, Anophthalmia, Spina bifida, Arrhinencephaly, Microphthalmia, Intrauterine growth ... ORPHA:3412
Bloom Syndrome
Premature ovarian insufficiency, Azoospermia, Oligospermia, Diabetes mellitus, Male infertility ORPHA:125
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo... OMIM:157640
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Systolic heart murmur, Right bundle branch block, Third heart... ORPHA:1329
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Atrial Septal Defect, Ostium Primum Type
Pulmonary arterial hypertension, Systolic heart murmur, Right bundle branch block, Third heart so... ORPHA:99106
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Right bundle branch block, T-... ORPHA:75566
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
Irida Syndrome
Pallor ORPHA:209981
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Cardiomyopathy, Abnormal EKG ORPHA:1177
Fanconi Anemia
Abnormal preputium morphology, Abnormal testis morphology, Hypogonadism, Bicornuate uterus, Decre... ORPHA:84
Wild Type Attr Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Abnormal EKG, Congestive heart failure, Hyp... ORPHA:330001
Liver Disease, Severe Congenital
Systolic heart murmur, Hyperalaninemia, Elevated hepatic iron concentration, Hyperbilirubinemia, ... OMIM:619991
Beta-Thalassemia
Skin ulcer, Pallor ORPHA:848
Von Hippel-Lindau Syndrome
Pancreatic cysts, Neoplasm of the pancreas, Pheochromocytoma, Epididymal cyst, Paraganglioma, Pap... OMIM:193300
Leishmaniasis
Skin ulcer, Pallor ORPHA:507
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Naxos Disease
Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, T-wave inversi... OMIM:601214
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Atrial Septal Defect, Ostium Secundum Type
Pulmonary arterial hypertension, Systolic heart murmur, Supraventricular tachycardia, Transient i... ORPHA:99103
Primary Myelofibrosis
Ecchymosis, Purpura, Petechiae, Pallor ORPHA:824
Kcnq2-Related Epileptic Encephalopathy
Facial erythema, Pallor ORPHA:439218
Dravet Syndrome
Pallor ORPHA:33069
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Anemia, Sideroblastic, 1
Anemic pallor OMIM:300751
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Abnormal T-wave, Ventricular arrhythmia,... ORPHA:37553
Juvenile Polyposis Syndrome
Pulmonary arterial hypertension, Mucosal telangiectasiae, Transient ischemic attack, Spontaneous,... ORPHA:2929
Congenital Aortic Valve Stenosis
Sudden cardiac death, Abnormal T-wave, Increased QRS voltage, Reduced left ventricular ejection f... ORPHA:3093
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Fanconi Anemia, Complementation Group A
Male infertility, Hypergonadotropic hypogonadism, Cryptorchidism OMIM:227650
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Al Amyloidosis
Reduced left ventricular ejection fraction, Abnormal EKG, Postural hypotension with compensatory ... ORPHA:85443
Retinitis Pigmentosa 75
Pallor OMIM:617023
Hemophagocytic Syndrome Associated With An Infection
Hypertriglyceridemia, Hyperproteinemia, Increased circulating ferritin concentration ORPHA:158048
Cold Agglutinin Disease
Pallor ORPHA:56425
Acquired Aneurysmal Subarachnoid Hemorrhage
Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Syncope, ST segment depression, Congesti... ORPHA:90065
Multiple Myeloma
Elevated circulating creatinine concentration, Hyperproteinemia, Hypercalcemia ORPHA:29073
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Anophthalmia, Lymphedema, Pleural effusion, Edema, Chylothorax, Microphthalmia ORPHA:2526
Microphthalmia, Syndromic 9
Bilateral microphthalmos, Intrauterine growth retardation, Anophthalmia OMIM:601186
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Leptospirosis
Hypotension, Retinal hemorrhage, Pulmonary hemorrhage, Pericarditis, Arrhythmia, Hyperproteinemia... ORPHA:509
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Right bundle branch block, Reduced left ventricular ejection fraction, Elevated cir... ORPHA:268
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Elliptocytosis 1
Pallor OMIM:611804
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Von Hippel-Lindau Disease
Pancreatic cysts, Hyperhidrosis, Pancreatic endocrine tumor, Elevated circulating catecholamine l... ORPHA:892
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating acylcarnitine concentration, Abnormal EKG, Elevated circulating creatine kin... ORPHA:480864
Glycogen Storage Disease Ii
Subarachnoid hemorrhage, Right axis deviation, Sinus tachycardia, Wolff-Parkinson-White syndrome,... OMIM:232300
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Anophthalmia, Umbilical hernia ORPHA:1101
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Joubert Syndrome 21
Occipital encephalocele, Anophthalmia OMIM:615636
Rheumatic Fever
Erythema, Pallor ORPHA:3099
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Meckel Syndrome
Encephalocele, Anophthalmia, Aplasia/Hypoplasia of the iris, Anencephaly, Oligohydramnios, Microp... ORPHA:564
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Syncope, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulati... ORPHA:230
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Idiopathic Pulmonary Hemosiderosis
Pallor ORPHA:99931
Tay-Sachs Disease
Pallor OMIM:272800
Carney Complex
Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian... ORPHA:1359
Microphthalmia, Syndromic 3
Microphthalmia, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia OMIM:206900
American Trypanosomiasis
Pallor ORPHA:3386
Chronic Thromboembolic Pulmonary Hypertension
Pulmonary arterial hypertension, Pulmonary embolism, Abnormal T-wave, Right bundle branch block, ... ORPHA:70591
Holoprosencephaly
Spinal dysraphism, Encephalocele, Branchial anomaly, Anophthalmia, Microphthalmia ORPHA:2162
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Azoospermia, Cholelithiasis ORPHA:2072
Oculocerebrorenal Syndrome Of Lowe
Diabetes insipidus, Hyperaldosteronism, Azoospermia, Hyperparathyroidism, Delayed puberty, Crypto... ORPHA:534
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Glycogen Storage Disease Of Heart, Lethal Congenital
Hypotension, T-wave inversion, ST segment depression, Congestive heart failure, Left axis deviati... OMIM:261740
Cerebrooculonasal Syndrome
Encephalocele, Anophthalmia, Optic nerve hypoplasia OMIM:605627
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the endocrine system... ORPHA:228123
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Senior-Loken Syndrome 8
Pallor OMIM:616307
Letterer-Siwe Disease
Pallor OMIM:246400
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Pyruvate Kinase Deficiency Of Red Cells
Pallor OMIM:266200
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Childhood Absence Epilepsy
Pallor ORPHA:64280
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Beta-Thalassemia Intermedia
Skin ulcer, Pallor ORPHA:231222
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Hypospadias, Abnormality of the Leydig cells, Cryptorchidism ORPHA:3063
Congenitally Uncorrected Transposition Of The Great Arteries
Left ventricular outflow tract obstruction, Abnormality of blood circulation, Cardiac shunt, Hear... ORPHA:860
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Arrhinencephaly, Anophthalmia ORPHA:2538
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Sepsis In Premature Infants
Purpura, Petechiae, Pallor ORPHA:90051
Primary Ciliary Dyskinesia
Female infertility, Male infertility, Abnormal sperm motility ORPHA:244
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fumarase Deficiency
Pallor OMIM:606812
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Hereditary Spherocytosis
Skin ulcer, Pallor ORPHA:822
Rare Circulatory System Disease
Pallor ORPHA:98028
Scorpion Envenomation
Myocarditis, T-wave inversion, Cardiogenic shock, Hypokalemia, Prominent U wave, Bundle branch bl... ORPHA:466677
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Steinert Myotonic Dystrophy
Decreased fertility, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Imp... ORPHA:273
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Charge Syndrome
Microphthalmia, Polyhydramnios, Intrauterine growth retardation, Anophthalmia ORPHA:138
Diphallia
Abnormal spermatogenesis, Bifid scrotum, Penoscrotal transposition, Rectoperineal fistula, Ectopi... ORPHA:227
Dominant Beta-Thalassemia
Skin ulcer, Pallor ORPHA:231226
Waldenström Macroglobulinemia
Purpura, Pallor ORPHA:33226
Holoprosencephaly 9
Microphthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:610829
Floating-Harbor Syndrome
Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele, Cryptorchidism, Gl... OMIM:136140
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal T-wave, Hyperphosphatemia, Sinus tachycardia, Abnormal pulse pressure, ST s... ORPHA:466650
Friedreich Ataxia
Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal EKG OMIM:229300
Imerslund-Gräsbeck Syndrome
Pallor ORPHA:35858
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Aregenerative Anemia
Pallor ORPHA:101096
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349
Adenohypophysitis
Pallor ORPHA:95512
Cocaine Intoxication
Hypotension, Ischemic stroke, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia, Supravent... ORPHA:90068
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Woodhouse-Sakati Syndrome
Hypothyroidism, Abnormal spermatogenesis, Decreased response to growth hormone stimulation test, ... ORPHA:3464
3-Hydroxy-3-Methylglutaric Aciduria
Pallor ORPHA:20
Panhypophysitis
Pallor ORPHA:95513
Pituitary Apoplexy
Pallor ORPHA:95613
Sheehan Syndrome
Dry skin, Pallor ORPHA:91355
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Anophthalmia ORPHA:2556
Beta-Thalassemia Major
Skin ulcer, Pallor ORPHA:231214
Systemic Mastocytosis With Associated Hematologic Neoplasm
Pallor ORPHA:98849
Fraser Syndrome 1
Bilateral microphthalmos, Myelomeningocele, Encephalocele, Anophthalmia OMIM:219000
Floating-Harbor Syndrome
Precocious puberty, Congenital posterior urethral valve, Epididymal cyst, Hypospadias, Varicocele... ORPHA:2044
Prolactinoma
Pallor ORPHA:2965
Refractory Anemia With Excess Blasts
Anemic pallor ORPHA:86839
Hereditary Pheochromocytoma-Paraganglioma
Pallor ORPHA:29072
Focal Dermal Hypoplasia
Myelomeningocele, Anophthalmia, Spina bifida occulta, Microphthalmia, Umbilical hernia, Aniridia OMIM:305600
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Proboscis Lateralis
Microphthalmia, Anophthalmia, Optic nerve hypoplasia ORPHA:141099
Cardiac Diverticulum
Abnormal EKG, Mitral stenosis, Syncope, Angina pectoris, Congestive heart failure, Arrhythmia, Pr... ORPHA:1686
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Fraser Syndrome
Myelomeningocele, Encephalocele, Anophthalmia, Microphthalmia, Umbilical hernia ORPHA:2052
Incontinentia Pigmenti
Erythema, Pallor OMIM:308300
Microphthalmia, Syndromic 2
Microphthalmia, Anophthalmia, Umbilical hernia OMIM:300166
Gitelman Syndrome
Abnormal T-wave, Hypokalemia, Prominent U wave, Low-to-normal blood pressure, Raynaud phenomenon,... ORPHA:358
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Microphthalmia With Limb Anomalies
Arrhinencephaly, Microphthalmia, True anophthalmia ORPHA:1106
Alternating Hemiplegia Of Childhood
Pallor ORPHA:2131
Charge Syndrome
Polyhydramnios, Anophthalmia, Arrhinencephaly, Unilateral microphthalmos, Microphthalmia, Umbilic... OMIM:214800
Pearson Marrow-Pancreas Syndrome
Erythema, Pallor OMIM:557000
Noonan Syndrome 1
Hypospadias, Male infertility, Hypogonadism, Cryptorchidism OMIM:163950
Generalized Juvenile Polyposis/Juvenile Polyposis Coli
Anemic pallor ORPHA:329971
Absence Of The Pulmonary Artery
Pulmonary arterial hypertension, Systolic heart murmur, Reduced left ventricular ejection fractio... ORPHA:980
Cystinosis, Nephropathic
Hypohidrosis, Male hypogonadism, Diabetes mellitus, Delayed puberty, Male infertility, Exocrine p... OMIM:219800
Histiocytoid Cardiomyopathy
Pallor ORPHA:137675
Idiopathic Hypereosinophilic Syndrome
Pallor ORPHA:3260
Branchiooculofacial Syndrome
Microphthalmia, Anophthalmia, Branchial anomaly, Intrauterine growth retardation OMIM:113620
Esophageal Atresia
Pallor ORPHA:1199
Fanconi Anemia, Complementation Group E
Anemic pallor OMIM:600901
Diamond-Blackfan Anemia 1
Pallor OMIM:105650
Tsh-Secreting Pituitary Adenoma
Pallor ORPHA:91347
Degcags Syndrome
Pallor OMIM:619488
Multiple Endocrine Neoplasia Type 2
Pallor ORPHA:653
Microphthalmia, Syndromic 6
Microphthalmia, Anophthalmia OMIM:607932
Fanconi Anemia, Complementation Group C
Anemic pallor OMIM:227645
Infection-Related Hemolytic Uremic Syndrome
Pallor ORPHA:544482
Autosomal Recessive Malignant Osteopetrosis
Pallor ORPHA:667
Blackfan-Diamond Anemia
Pallor ORPHA:124
Fanconi Anemia, Complementation Group D2
Anemic pallor OMIM:227646
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Pallor OMIM:253280
Craniofacial Microsomia
Microphthalmia, Occipital encephalocele, Branchial anomaly, Anophthalmia OMIM:164210
Woodhouse-Sakati Syndrome
Abnormal T-wave, Hyperlipidemia OMIM:241080
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave ORPHA:444072
African Trypanosomiasis
Third degree atrioventricular block, Abnormal EKG, Congestive heart failure, Pericarditis, Arrhyt... ORPHA:3385
Microphthalmia, Syndromic 1
Microphthalmia, Anophthalmia OMIM:309800
Friedreich Ataxia 2
Congestive heart failure, Concentric hypertrophic cardiomyopathy, Abnormal EKG OMIM:601992
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
Epididymis - MPATH pathological process term aspermia Ggnbp2tm1b(KOMP)Wtsi HOM Early adult
Testis - MPATH pathological process term dysplasia 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter