Gene: Ggnbp2 MGI:2387356

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Gene Summary

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, incomplete penetrance Ggnbp2tm1b(KOMP)Wtsi HOM   Early adult 0.00
edema Ggnbp2tm1b(KOMP)Wtsi HET E15.5 0.00
decreased circulating total protein level Ggnbp2tm1b(KOMP)Wtsi HET Early adult 4.36×10-05
abnormal embryo size Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
anophthalmia Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00
shortened QRS complex duration Ggnbp2tm1b(KOMP)Wtsi HET Early adult 2.62×10-07
edema Ggnbp2tm1b(KOMP)Wtsi HOM E15.5 0.00

Download data as:  TSV  XLS

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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
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 0.0% (0 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 0.0% (0 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 66.67% (2 of 3)
N/A homozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A Ambiguous
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 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

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 Whole Body Lateral Orientation

12 Images

Gross Pathology and Tissue Collection

Images

12 Images

X-ray

XRay Images Whole Body Dorso Ventral

12 Images

Embryo LacZ

LacZ images wholemount

16 Images

X-ray

XRay Images Skull Lateral Orientation

12 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

Gross Morphology Embryo E14.5-E15.5

Images

6 Images

Eye Morphology

Images Slit Lamp

2 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

12 Images

Combined SHIRPA and Dysmorphology

Images

1 Images

Histopathology

Images

4 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
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Partial Chromosome Y Deletion
Cryptorchidism, Oligospermia, Non-obstructive azoospermia, Decreased testicular size, Male infert... ORPHA:1646
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Azoospermia, Spermatogenesis maturation arrest OMIM:619145
Lipedema
Edema OMIM:614103
Isochromosomy Yp
Ambiguous genitalia, Decreased testicular size, Male infertility, Azoospermia ORPHA:98797
Isochromosomy Yq
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:98798
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligospermia OMIM:619108
Spermatogenic Failure 25
Decreased testicular size, Azoospermia, Cryptozoospermia OMIM:617960
Hypogonadotropic Hypogonadism 24 Without Anosmia
Infertility, Azoospermia, Primary amenorrhea, Decreased testicular size, Hypogonadism OMIM:229070
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Azoospermia, Non-obstructive azoospermia, Obstructive a... ORPHA:399805
Spermatogenic Failure 12
Infertility, Azoospermia, Abnormal male germ cell morphology OMIM:615413
Angioedema, Hereditary, 6
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619363
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Spermatogenic Failure 32
Infertility, Azoospermia OMIM:618115
Spermatogenic Failure 23
Infertility, Azoospermia OMIM:617707
Spermatogenic Failure 22
Infertility, Azoospermia OMIM:617706
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 8
Azoospermia, Oligospermia, Cryptozoospermia OMIM:613957
Trypsinogen Deficiency
Hypoproteinemia OMIM:614044
Spermatogenic Failure 46
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Coiled sperm flagel... OMIM:619095
Young Syndrome
Decreased fertility, Obstructive azoospermia ORPHA:3471
Spermatogenic Failure, X-Linked, 3
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Coile... OMIM:301059
Spermatogenic Failure, X-Linked, 2
Testicular atrophy, Male infertility, Azoospermia OMIM:309120
Spermatogenic Failure 30
Azoospermia, Cryptozoospermia OMIM:618110
Spermatogenic Failure 2
Azoospermia, Oligospermia OMIM:108420
Spermatogenic Failure 43
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Absent sperm axoneme centra... OMIM:618751
Spermatogenic Failure 49
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619144
Spermatogenic Failure 45
Absent sperm flagella, Reduced sperm motility, Coiled sperm flagella, Short sperm flagella, Male ... OMIM:619094
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Globozoospermia, Increased circulating gonadotropin level, Non-obstructive azoospermia, Decreased... ORPHA:399808
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Abnormality of male internal genitalia OMIM:261550
Spermatogenic Failure 40
Absent sperm flagella, Oligospermia, Immotile sperm, Coiled sperm flagella, Short sperm flagella,... OMIM:618664
Deafness-Infertility Syndrome
Reduced sperm motility, Male infertility, Abnormal spermatogenesis OMIM:611102
Spermatogenic Failure 47
Absent sperm flagella, Oligospermia, Immotile sperm, Short sperm flagella, Male infertility OMIM:619102
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
Ring Chromosome Y Syndrome
Cryptorchidism, Ambiguous genitalia, Male hypogonadism, Azoospermia, Ambiguous genitalia, male, U... ORPHA:261529
Spermatogenic Failure 54
Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm flagella, Abnormal sperm a... OMIM:619379
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Kaposi Sarcoma, Susceptibility To
Edema OMIM:148000
Spermatogenic Failure 1
Male infertility, Oligospermia, Cryptozoospermia OMIM:258150
Enterokinase Deficiency
Hypoproteinemia OMIM:226200
Lymphatic Malformation 2
Lymphedema OMIM:611944
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia OMIM:277180
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 29
Azoospermia OMIM:618091
Spermatogenic Failure, Y-Linked, 2
Azoospermia OMIM:415000
Spermatogenic Failure 13
Azoospermia OMIM:615841
Spermatogenic Failure 14
Azoospermia OMIM:615842
Spermatogenic Failure 39
Absent sperm flagella, Reduced sperm motility, Oligospermia, Tapered sperm head, Coiled sperm fla... OMIM:618643
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Muscular Dystrophy, Cardiac Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Cardiomyopathy OMIM:309930
Spermatogenic Failure 7
Male infertility, Immotile sperm, Reduced sperm motility, Oligospermia OMIM:612997
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia OMIM:137280
Spermatogenic Failure 5
Male infertility, Functional abnormality of male internal genitalia OMIM:243060
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 42
Absent sperm flagella, Reduced sperm motility, Tapered sperm head, Microcephalic sperm head, Coil... OMIM:618745
Muscular Dystrophy, Becker Type
Elevated circulating creatine kinase concentration, Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Male Infertility Due To Acephalic Spermatozoa
Reduced sperm motility, Oligospermia, Abnormal sperm mid-piece morphology, Acephalic spermatozoa,... ORPHA:529970
Spermatogenic Failure 41
Oligospermia, Immotile sperm, Tapered sperm head, Short sperm flagella, Male infertility OMIM:618670
Spinocerebellar Ataxia Type 32
Testicular atrophy, Male infertility, Azoospermia ORPHA:276183
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Azoospermia, Primary amenorrhea, Decreased testicular size, Micropenis OMIM:614897
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Angioedema, Hereditary, 5
Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619361
Long Qt Syndrome 11
Prolonged QT interval, Syncope OMIM:611820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v... OMIM:611528
Brugada Syndrome 9
Palpitations, Presyncope, ST segment elevation OMIM:616399
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Spermatogenic Failure 51
Absent sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Oligospermia, Micro... OMIM:619177
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Cryptorchidism, Azoospermia, Hypoplasia of the uterus, Primary amenorrhea, Hypogonadotropic hypog... OMIM:614837
Spermatogenic Failure 28
Decreased testicular size, Elevated circulating follicle stimulating hormone level, Elevated circ... OMIM:618086
Spermatogenic Failure 44
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Hyperplasia of the Leydig cells, Azoospermia, Bilateral breast hypoplasia, Oli... ORPHA:52901
Enteropathy, Familial, With Villous Edema And Immunoglobulin G2 Deficiency
Hypoproteinemia, Hypoalbuminemia, Shock OMIM:600351
Incessant Infant Ventricular Tachycardia
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... ORPHA:45453
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Obstructive azoospermia, Oligospermia ORPHA:48
Spermatogenic Failure 18
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617576
Spermatogenic Failure 20
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617593
Spermatogenic Failure 19
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:617592
Spermatogenic Failure 35
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618341
Spermatogenic Failure 33
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618152
Spermatogenic Failure 34
Infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella OMIM:618153
Immunodeficiency 43
Hypoproteinemia, Hypoalbuminemia OMIM:241600
Spermatogenic Failure 38
Absent sperm flagella, Reduced sperm motility, Abnormal sperm head morphology, Oligospermia, Abno... OMIM:618433
Brugada Syndrome 3
Ventricular arrhythmia, Shortened QT interval, J wave, Atrial fibrillation, Sudden cardiac death,... OMIM:611875
Angioedema, Hereditary, 8
Laryngeal edema, Angioedema, Edema of the dorsum of hands, Facial edema OMIM:619367
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Androgen Insensitivity, Partial
Cryptorchidism, Infertility, Azoospermia, Bifid scrotum, Absent vas deferens, Perineal hypospadia... OMIM:312300
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Retinitis Pigmentosa 42
Pallor OMIM:612943
Jervell And Lange-Nielsen Syndrome 1
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:220400
Familial Male-Limited Precocious Puberty
Long penis, Oligospermia, Macroorchidism, Male infertility, Precocious puberty ORPHA:3000
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Long Qt Syndrome 3
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:603830
Long Qt Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613688
Long Qt Syndrome 6
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613693
Long Qt Syndrome 5
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:613695
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Pancreatic insufficiency, combined exocrine
Hypoproteinemia, Congestive heart failure OMIM:260450
Fryns Microphthalmia Syndrome
Neural tube defect, Microphthalmia, Anophthalmia OMIM:600776
Long Qt Syndrome 15
Ventricular fibrillation, Prolonged QT interval, Cardiac arrest, Bradycardia, Prolonged QTc interval OMIM:616249
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Azoospermia, Pri... OMIM:612885
Retinitis Pigmentosa 81
Pallor OMIM:617871
Young Syndrome
Azoospermia OMIM:279000
Spermatogenic Failure 4
Azoospermia, Recurrent spontaneous abortion OMIM:270960
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c... OMIM:604400
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Idiopathic Steroid-Sensitive Nephrotic Syndrome
Lymphedema ORPHA:69061
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Syncope, Prolonged QT interval, Ventricular tachycardia OMIM:614021
Long Qt Syndrome 1
Sudden cardiac death, Ventricular fibrillation, Prolonged QT interval, Torsade de pointes, Syncope OMIM:192500
Brugada Syndrome 6
Ventricular fibrillation, Cardiac arrest, ST segment elevation OMIM:613119
Lymphedema-Cerebral Arteriovenous Anomaly Syndrome
Lymphedema ORPHA:86914
Brugada Syndrome 7
Atrial flutter, ST segment elevation OMIM:613120
Romano-Ward Syndrome
Ventricular arrhythmia, Torsade de pointes, Abnormal cardiac exercise stress test, Sudden cardiac... ORPHA:101016
Spermatogenic Failure 11
Infertility, Abnormal sperm morphology OMIM:615081
Spermatogenic Failure 10
Infertility, Abnormal sperm morphology OMIM:614822
Ciliary Dyskinesia, Primary, 40
Infertility, Azoospermia OMIM:618300
Morbid Obesity And Spermatogenic Failure
Infertility, Azoospermia, Oligospermia OMIM:615703
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Short Qt Syndrome 1
Palpitations, Paroxysmal atrial fibrillation, Shortened QT interval, Sudden cardiac death, Cardia... OMIM:609620
Nathalie Syndrome
Abnormal EKG OMIM:255990
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Hypogonadotropic Hypogonadism 23 Without Anosmia
Ovarian cyst, Abnormality of the Leydig cells, Oligomenorrhea, Micropenis, Secondary amenorrhea, ... OMIM:228300
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Edema, Familial Idiopathic, Prepubertal
Edema OMIM:129840
Long Qt Syndrome 16
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans OMIM:618782
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Cardiac Arrhythmia, Ankyrin-B-Related
Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Prolonged QT interval, Syncope OMIM:600919
Long Qt Syndrome 12
Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope OMIM:612955
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Retinitis Pigmentosa 60
Pallor OMIM:613983
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Polyhydramnios, Chronic Idiopathic
Polyhydramnios OMIM:263610
Chilblain Lupus 2
Edema OMIM:614415
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Hypoproteinemia OMIM:207731
Jervell And Lange-Nielsen Syndrome 2
Sudden cardiac death, Prolonged QT interval, Torsade de pointes, Syncope OMIM:612347
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension OMIM:615378
Leydig Cell Hypoplasia
Cryptorchidism, Hyoplasia of the Leydig cells, Male hypogonadism, Increased circulating gonadotro... ORPHA:755
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Palpitations, Prolonged PR interval, Prolonged QTc interval OMIM:612240
Long Qt Syndrome 9
Ventricular arrhythmia, Prolonged QT interval, Sinus bradycardia, Cardiac arrest OMIM:611818
Cerebrooculofacioskeletal Syndrome 3
Intrauterine growth retardation, Edema, Microphthalmia OMIM:616570
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypocalcemia, Hypoproteinemia, Arrhythmia, Elevated circulating creatine kinase concentration, Ve... ORPHA:26793
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia OMIM:152800
Macular Dystrophy, Dominant Cystoid
Edema, Cystoid macular edema OMIM:153880
Congenital Left Ventricular Aneurysm
Abnormal T-wave, Arrhythmia, Congestive heart failure, Abnormal ST segment ORPHA:1055
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Anophthalmia OMIM:221950
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Absent vas deferens, Azoospermia OMIM:300985
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Infertility, Azoospermia, Amenorrhea OMIM:602390
Partial Androgen Insensitivity Syndrome
Ambiguous genitalia, Elevated circulating luteinizing hormone level, Blind vagina, Aplasia of the... ORPHA:90797
Short Qt Syndrome 2
Shortened QT interval, Atrial fibrillation, Sudden cardiac death, Ventricular fibrillation, Brady... OMIM:609621
Short Qt Syndrome 3
Shortened QT interval, Palpitations, Tachycardia OMIM:609622
Dengue Fever
Hypoproteinemia, Gastrointestinal hemorrhage, Hypotension, Epistaxis, Cerebral hemorrhage ORPHA:99828
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... OMIM:613243
Congenital Analbuminemia
Hypercholesterolemia, Hypoproteinemia, Hypoalbuminemia, Low pulse pressure, Increased alpha-globu... ORPHA:86816
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Hypoproteinemia ORPHA:1116
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Lymphatic Malformation 8
Polyhydramnios, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Generalized edema OMIM:618773
Lymphatic Malformation 3
Lymphedema OMIM:613480
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia OMIM:615524
Optic Atrophy 9
Pallor OMIM:616289
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Brugada Syndrome 4
Shortened QT interval, Atrial fibrillation, Syncope OMIM:611876
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Ambiguous genitalia, Absent testis, Abnormality... ORPHA:983
Atrial Standstill
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... ORPHA:1344
Nephrotic Syndrome, Type 1
Hypoproteinemia, Hypoalbuminemia, Hyperlipidemia OMIM:256300
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Pallor ORPHA:46532
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
47,Xyy Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Azoospermia, Oligospermia, Macroorchidi... ORPHA:8
Tako-Tsubo Cardiomyopathy
Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog... ORPHA:66529
46,Xy Partial Gonadal Dysgenesis
Cryptorchidism, Abnormal internal genitalia, Female external genitalia in individual with 46,XY k... ORPHA:251510
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Abnormal EKG OMIM:178650
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:754
Glaucoma 3, Primary Congenital, E
Edema OMIM:617272
Nephrotic Syndrome, Type 22
Hypoproteinemia OMIM:619155
White Sponge Nevus 2
Edema OMIM:615785
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Pallor ORPHA:79283
Normosmic Congenital Hypogonadotropic Hypogonadism
Cryptorchidism, Male hypogonadism, Azoospermia, Breast hypoplasia, Non-obstructive azoospermia, H... ORPHA:432
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Peripheral Cone Dystrophy
Pallor OMIM:609021
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Azoospermia ORPHA:2183
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Ménétrier Disease
Hypoproteinemia, Hypoalbuminemia, Gastrointestinal hemorrhage ORPHA:2494
Cone-Rod Dystrophy 11
Pallor OMIM:610381
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Azoospermia, Gonadal tissue inappropriate for external genitalia or chromoso... ORPHA:261519
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Retinohepatoendocrinologic Syndrome
Pallor OMIM:268040
Hemorrhagic Fever-Renal Syndrome
Hypoproteinemia, Arrhythmia, Gastrointestinal hemorrhage, Intracranial hemorrhage, Subconjunctiva... ORPHA:340
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... ORPHA:280679
Hemophagocytic Lymphohistiocytosis, Familial, 1
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Increas... OMIM:267700
Adrenal Hypoplasia, Congenital
Cryptorchidism, Azoospermia, Oligospermia, Hypogonadotropic hypogonadism, Precocious puberty OMIM:300200
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Pulmonary embolism, Hypoproteinemia, Budd-Chiari syndrome, Hypoalbuminemia OMIM:226300
46,Xx Sex Reversal 2
Ovotestis, Azoospermia, Bifid scrotum, Sex reversal, Scrotal hypoplasia, Hypoplasia of the uterus... OMIM:278850
Refractory Celiac Disease
Hypophosphatemia, Hypocalcemia, Hypoproteinemia, Hypoalbuminemia, Hypomagnesemia ORPHA:398063
Cardiomyopathy, Familial Hypertrophic, 10
Palpitations, Asymmetric septal hypertrophy, T-wave inversion, Ventricular tachycardia, Sudden ca... OMIM:608758
Spermatogenic Failure 15
Non-obstructive azoospermia OMIM:616950
49,Xyyyy Syndrome
Male hypogonadism, Increased circulating gonadotropin level, Azoospermia, Abnormality of the test... ORPHA:99330
Citrullinemia Type Ii
Hypercholesterolemia, Hypoproteinemia, Acute hyperammonemia, Hypertriglyceridemia, Hypoalbuminemi... ORPHA:247585
Retinitis Pigmentosa 70
Pallor OMIM:615922
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Cryptorchidism, Azoospermia, Testicular atrophy, Hypogonadotropic hypogonadism, Decreased testicu... OMIM:308700
Auditory Neuropathy And Optic Atrophy
Pallor OMIM:617717
46,Xx Sex Reversal 1
Ovotestis, Elevated circulating luteinizing hormone level, Azoospermia, Sex reversal, Bicornuate ... OMIM:400045
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased testicular size, Azoospermia, Decreased response to gro... OMIM:300845
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Cryptorchidism, Ambiguous genitalia, Infertility, Abnormality of the urethra, Male pseudohermaphr... ORPHA:752
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Lymphatic Malformation 9
Predominantly lower limb lymphedema OMIM:619319
Breath-Holding Spells
Pallor OMIM:607578
Ring Chromosome 21 Syndrome
Infertility, Azoospermia, Amenorrhea ORPHA:1445
Secondary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia ORPHA:90363
Atrial Standstill 2
Palpitations, Atrial standstill, Atrial cardiomyopathy, Atrial arrhythmia, Hyperpepsinogenemia I,... OMIM:615745
48,Xxyy Syndrome
Cryptorchidism, Infertility, Azoospermia, Hypergonadotropic hypogonadism, Hypoplasia of penis, De... ORPHA:10
48,Xyyy Syndrome
Male hypogonadism, Azoospermia ORPHA:99329
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Autoimmune Hemolytic Anemia, Cold Type
Pallor ORPHA:228312
Lymphedema And Cerebral Arteriovenous Anomaly
Lymphedema OMIM:152900
Dermatitis, Atopic
Pallor, Facial erythema, Dry skin OMIM:603165
Hemochromatosis, Type 1
Azoospermia, Amenorrhea, Impotence, Testicular atrophy, Hypogonadotropic hypogonadism OMIM:235200
Benign Paroxysmal Torticollis Of Infancy
Pallor ORPHA:71518
Congenital Disorder Of Glycosylation, Type Ij
Hypoproteinemia OMIM:608093
Omenn Syndrome
Hypoproteinemia OMIM:603554
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Cryptorchidism, Azoospermia, Ambiguous genitalia, male, Clitoral hypertrophy, Congenital adrenal ... ORPHA:90791
Lymphatic Malformation 10
Lymphedema OMIM:619369
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Optic Atrophy 1
Pallor OMIM:165500
Acute Peripheral Arterial Occlusion
Pallor ORPHA:90064
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Bicornuate uterus, Hypoplasia of the uterus, Azoospermia OMIM:601076
Retinitis Pigmentosa 73
Pallor OMIM:616544
Lymphatic Malformation 7
Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fetalis, Pulmonary edema OMIM:617300
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Testicular dysgenesis, Male pseudohermaphroditism, Polycystic ovaries ORPHA:242
Retinitis Pigmentosa 27
Pallor OMIM:613750
Cardiogenic Shock
Low pulse pressure, Right ventricular failure, Hypotension, Elevated circulating creatinine conce... ORPHA:97292
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Pallor ORPHA:2786
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Hemophagocytic Lymphohistiocytosis, Familial, 2
Increased circulating ferritin concentration, Increased total bilirubin, Hypoproteinemia, Hyponat... OMIM:603553
Trisomy 13
Hydrops fetalis, Aplasia/Hypoplasia of the iris, Microphthalmia, Anophthalmia, Intrauterine growt... ORPHA:3378
Muscular Dystrophy, Duchenne Type
Arrhythmia, Cardiomyopathy, Elevated circulating creatine kinase concentration, Congestive heart ... OMIM:310200
46,Xx Ovotesticular Disorder Of Sex Development
Abnormal morphology of female internal genitalia, Cryptorchidism, Abnormality of the uterus, Ambi... ORPHA:2138
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hypocalcemia, Hypoproteinemia OMIM:235255
Leber Congenital Amaurosis 14
Pallor OMIM:613341
Primary Intestinal Lymphangiectasia
Hypocalcemia, Hypoproteinemia, Hypoalbuminemia ORPHA:90362
Cardiomyopathy, Familial Hypertrophic 27
Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation OMIM:618052
Primary Lateral Sclerosis, Juvenile
Pallor OMIM:606353
Anophthalmia Plus Syndrome
Spina bifida, Anophthalmia ORPHA:1104
Acute Myelomonocytic Leukemia
Pallor ORPHA:517
Complete Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Elevated circulating luteinizing hormone level,... ORPHA:99429
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiogen... ORPHA:75565
45,X/46,Xy Mixed Gonadal Dysgenesis
Cryptorchidism, Chordee, Abnormal internal genitalia, Epispadias, Male infertility, Micropenis, A... ORPHA:1772
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
48,Xxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Hypoplasia of penis, Decreased test... ORPHA:96263
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
X-Linked Sideroblastic Anemia
Pallor ORPHA:75563
Hydrolethalus
Polyhydramnios, Microphthalmia, Anophthalmia ORPHA:2189
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Pseudohypoparathyroidism Type 2
Hypocalcemia, Hypocalcemic tetany, Prolonged QT interval, Hyperphosphatemia, Hypocalcemic seizures ORPHA:94090
Johanson-Blizzard Syndrome
Hypoproteinemia ORPHA:2315
Trisomy 1Q
Polyhydramnios, Increased nuchal translucency, Hydrops fetalis, Anophthalmia ORPHA:261344
49,Xxxxy Syndrome
Cryptorchidism, Infertility, Azoospermia, Scrotal hypoplasia, Hypoplasia of penis, Decreased test... ORPHA:96264
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Increased circulating troponin I concentratio... OMIM:619040
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Cryptorchidism, Infertility, Increased circulating gonadotropin level, Aplasia of the ovary, Brea... ORPHA:2232
Optic Atrophy 7 With Or Without Auditory Neuropathy
Pallor OMIM:612989
Corneal Dystrophy, Fuchs Endothelial, 2
Edema OMIM:610158
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hypocalcemia, Hypoproteinemia ORPHA:1655
Yellow Nail Syndrome
Lymphedema, Predominantly lower limb lymphedema OMIM:153300
Functioning Gonadotropic Adenoma
Panhypopituitarism, Ovarian cyst, Increased circulating gonadotropin level, Abnormality of the me... ORPHA:91348
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Azoospermia OMIM:210900
Matthew-Wood Syndrome
Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:2470
8P11.2 Deletion Syndrome
Cryptorchidism, Azoospermia, Patent ductus arteriosus, Hypoplasia of penis, Hypogonadotropic hypo... ORPHA:251066
Familial Glucocorticoid Deficiency
Cryptorchidism, Azoospermia, Leydig cell neoplasia, Testicular adrenal rest tumor, Precocious pub... ORPHA:361
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, Arrhythmia, T-wave inversion, Ventricular tachycardia, Ventricular fibrillation, ST... ORPHA:263297
Pierson Syndrome
Hypoproteinemia OMIM:609049
Chédiak-Higashi Syndrome
Increased circulating ferritin concentration, Hypoproteinemia, Hyponatremia, Epistaxis, Hypertrig... ORPHA:167
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Pallor ORPHA:276608
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Familial Focal Epilepsy With Variable Foci
Pallor ORPHA:98820
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Pallor OMIM:608423
Jervell And Lange-Nielsen Syndrome
Arrhythmia, Ventricular fibrillation, Prolonged QTc interval, Torsade de pointes, Syncope ORPHA:90647
Peripartum Cardiomyopathy
Cardiogenic shock, Palpitations, Reduced ejection fraction, Right ventricular failure, Dilated ca... ORPHA:563
Spontaneous Periodic Hypothermia
Pallor ORPHA:29822
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Ovarian cyst, Male hypogonadism, Elevated circulating luteinizing hormone level, Ambiguous genita... ORPHA:90793
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Palpitations, Intracranial hemorrhage, Epistaxis, Hypertension, Abnormal T-wave, Hypokalemia, Dec... ORPHA:231625
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligospermia OMIM:314300
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Cockayne Syndrome Type 2
Intrauterine growth retardation, Anophthalmia ORPHA:90322
Classic Galactosemia
Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Primary amenorrhea, Secondary ame... ORPHA:79239
Complete Atrioventricular Septal Defect
Right ventricular failure, Elevated pulmonary artery pressure, Third heart sound, Abnormal atriov... ORPHA:1329
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Atrial Septal Defect, Ostium Primum Type
Palpitations, Right bundle branch block, Atrial flutter, Third heart sound, Atrial fibrillation, ... ORPHA:99106
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pallor OMIM:613839
Wild Type Attr Amyloidosis
Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Myocardial infarction, Congesti... ORPHA:330001
Cyclic Vomiting Syndrome
Pallor OMIM:500007
Thiamine-Responsive Megaloblastic Anemia Syndrome
Pallor ORPHA:49827
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Microphthalmia, Anophthalmia ORPHA:77298
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:168558
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Myelofibrosis
Pallor, Purpura OMIM:254450
Congenital Aortic Valve Stenosis
Reduced ejection fraction, Abnormal pulse pressure, Angina pectoris, Abnormal left ventricular fu... ORPHA:3093
Atrial Septal Defect, Ostium Secundum Type
Palpitations, Arrhythmia, Bundle branch block, Right ventricular failure, Supraventricular arrhyt... ORPHA:99103
Hyperinsulinism Due To Ucp2 Deficiency
Pallor ORPHA:276556
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Cryptorchidism, Elevated circulating luteinizing hormone level, Midshaft hypospadias, Ambiguous g... ORPHA:289548
Evans Syndrome
Petechiae, Pallor ORPHA:1959
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Hypogonadism, Azoospermia ORPHA:300298
Aromatase Deficiency
Cryptorchidism, Hypergonadotropic hypogonadism, Primary amenorrhea, Female infertility, Macroorch... ORPHA:91
Vacterl With Hydrocephalus
Polyhydramnios, Spina bifida, Microphthalmia, Anophthalmia, Intrauterine growth retardation ORPHA:3412
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Pallor ORPHA:276575
Anemia, Congenital Dyserythropoietic, Type Ib
Pallor OMIM:615631
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG ORPHA:1177
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Pallor ORPHA:276580
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Hyperinsulinism Due To Hnf1A Deficiency
Pallor ORPHA:324575
H Syndrome
Azoospermia, Amenorrhea, Decreased testicular size, Hypogonadism, Micropenis ORPHA:168569
Retinitis Pigmentosa 51
Pallor OMIM:613464
Beta-Thalassemia
Pallor, Skin ulcer ORPHA:848
Irida Syndrome
Pallor ORPHA:209981
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:206900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pallor OMIM:600462
Retinitis Pigmentosa 75
Pallor OMIM:617023
Al Amyloidosis
Arrhythmia, Gastrointestinal hemorrhage, Postural hypotension with compensatory tachycardia, Incr... ORPHA:85443
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Leishmaniasis
Pallor, Skin ulcer ORPHA:507
Myopathic Ehlers-Danlos Syndrome
Pallor ORPHA:536516
Deafness-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormal spermatogenesis ORPHA:90646
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Immotile sperm OMIM:614874
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Myoclonus, Intractable, Neonatal
Pallor OMIM:617235
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Ischemic stroke, ST segment depression, Hypertension, Myocardial infarction... ORPHA:90065
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failure, Prolonged QT interv... OMIM:610198
Hb Bart'S Hydrops Fetalis
Pallor ORPHA:163596
Primary Myelofibrosis
Petechiae, Pallor, Ecchymosis, Purpura ORPHA:824
Drug-Induced Autoimmune Hemolytic Anemia
Pallor ORPHA:90037
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Pallor OMIM:611590
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Kcnq2-Related Epileptic Encephalopathy
Pallor, Facial erythema ORPHA:439218
Non-Functioning Paraganglioma
Pallor ORPHA:94080
Senior-Loken Syndrome 8
Pallor OMIM:616307
Elliptocytosis 1
Pallor OMIM:611804
Cold Agglutinin Disease
Pallor ORPHA:56425
Microphthalmia, Syndromic 9
Intrauterine growth retardation, Bilateral microphthalmos, Anophthalmia OMIM:601186
Juvenile Polyposis Syndrome
Hypoproteinemia, Gastrointestinal hemorrhage, Hematochezia, Spontaneous, recurrent epistaxis, Epi... ORPHA:2929
Ciliary Dyskinesia, Primary, 14
Reduced sperm motility, Absent inner dynein arms, Immotile sperm, Abnormal axonemal organization ... OMIM:613807
Dravet Syndrome
Pallor ORPHA:33069
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Elevated circulating creatine kinase concentration, Reduced ejection fraction, Right bundle branc... ORPHA:268
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Lymphedema, Pleural effusion, Chylothorax, Edema, Microphthalmia, Anophthalmia ORPHA:2526
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Arrhythmia, Prolonged QT interval ORPHA:2151
Autoimmune Hemolytic Anemia
Pallor ORPHA:98375
Mixed-Type Autoimmune Hemolytic Anemia
Pallor ORPHA:90036
Lymphatic Malformation 6
Polyhydramnios, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites, Nonimmune hydrops fet... OMIM:616843
Deafness-Lymphedema-Leukemia Syndrome
Pallor ORPHA:3226
Friedreich Ataxia
Abnormal EKG, Abnormal echocardiogram, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:229300
Pituitary Dermoid And Epidermoid Cysts
Panhypopituitarism, Oligospermia, Amenorrhea, Enlarged pituitary gland, Oligomenorrhea, Neoplasm ... ORPHA:91351
Acquired Idiopathic Sideroblastic Anemia
Pallor ORPHA:75564
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Arrhythmia, Elevated circulating acylcarnitine concentration, Prolonged QT interval, Elevated cir... ORPHA:480864
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Umbilical hernia, Anophthalmia ORPHA:1101
Fibular Hemimelia
Spina bifida, Anophthalmia ORPHA:93323
Dopamine Beta-Hydroxylase Deficiency
Increased blood urea nitrogen, Orthostatic hypotension, Elevated circulating creatinine concentra... ORPHA:230
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Pallor OMIM:246450
Fanconi Anemia
Cryptorchidism, Abnormality of the uterus, Azoospermia, Absent testis, Abnormal testis morphology... ORPHA:84
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Hyperpro... ORPHA:509
Histiocytosis-Lymphadenopathy Plus Syndrome
Azoospermia, Hypergonadotropic hypogonadism, Patent ductus arteriosus, Pancreatic hypoplasia, Mic... OMIM:602782
Rheumatic Fever
Pallor, Erythema ORPHA:3099
Cockayne Syndrome Type 1
Anophthalmia ORPHA:90321
Cone-Rod Dystrophy 8
Pallor OMIM:605549
Autosomal Dominant Cerebellar Ataxia
Azoospermia ORPHA:99
Familial Hyperaldosteronism Type Iii
Intracranial hemorrhage, Epistaxis, Hypertension, Hypokalemia, Prolonged QT interval ORPHA:251274
Autoimmune Hypoparathyroidism
Ventricular arrhythmia, Hypocalcemia, Abnormal left ventricular function, Hypocalcemic tetany, Pr... ORPHA:36913
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Pallor ORPHA:13
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Increased HDL cholesterol concentration, Cardiac shunt, ... ORPHA:70591
American Trypanosomiasis
Pallor ORPHA:3386
Bloom Syndrome
Male infertility, Azoospermia, Premature ovarian insufficiency, Oligospermia ORPHA:125
Multiple Myeloma
Elevated circulating creatinine concentration, Hypercalcemia, Hyperproteinemia ORPHA:29073
Fanconi Anemia, Complementation Group I
Pallor OMIM:609053
Holoprosencephaly
Spinal dysraphism, Microphthalmia, Branchial anomaly, Anophthalmia ORPHA:2162
Recessive Mitochondrial Ataxia Syndrome
Increased serum pyruvate, ST segment elevation ORPHA:94125
Tay-Sachs Disease
Pallor OMIM:272800
Hyperinsulinism Due To Hnf4A Deficiency
Pallor ORPHA:263455
Autoimmune Hemolytic Anemia, Warm Type
Pallor ORPHA:90033
Hemifacial Microsomia
Microphthalmia, Branchial anomaly, Anophthalmia OMIM:164210
Meckel Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Oligohydramnios, Anophthalmia ORPHA:564
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Microphthalmia, Anophthalmia ORPHA:2250
Diphallia
Cryptorchidism, Bifid scrotum, Penoscrotal transposition, Ectopic scrotum, Hypospadias, Bifid pen... ORPHA:227
Andersen Cardiodysrhythmic Periodic Paralysis
Palpitations, Prominent U wave, Bidirectional ventricular ectopy, Hypokalemia, Prolonged QT inter... OMIM:170390
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, Increased cir... ORPHA:466677
Cerebrooculonasal Syndrome
Anophthalmia OMIM:605627
Microgastria-Limb Reduction Defects Association
Anophthalmia OMIM:156810
Letterer-Siwe Disease
Pallor OMIM:246400
Mccune-Albright Syndrome
Ovarian cyst, Hyperplasia of the Leydig cells, Elevated circulating growth hormone concentration,... ORPHA:562
Joubert Syndrome 21
Anophthalmia OMIM:615636
Plummer-Vinson Syndrome
Pallor ORPHA:54028
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased plasma carnitine, Abnormal circulating acetylcarnitine concentration, Mildly elevated c... ORPHA:71212
Fumarase Deficiency
Pallor OMIM:606812
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia ORPHA:264200
Fanconi Anemia, Complementation Group A
Hypergonadotropic hypogonadism, Cryptorchidism, Male infertility OMIM:227650
Congenital Dyserythropoietic Anemia Type Iii
Pallor ORPHA:98870
Hereditary Spherocytosis
Pallor, Skin ulcer ORPHA:822
Myopathy, Mitochondrial, And Ataxia
Pallor OMIM:617675
Generalized Glucocorticoid Resistance Syndrome
Ambiguous genitalia, Infertility, Oligospermia, Oligomenorrhea, Adrenal hyperplasia, Precocious p... ORPHA:786
Childhood Absence Epilepsy
Pallor ORPHA:64280
Beta-Thalassemia Intermedia
Pallor, Skin ulcer ORPHA:231222
Sporadic Pheochromocytoma/Secreting Paraganglioma
Pallor ORPHA:276621
Sepsis In Premature Infants
Petechiae, Pallor, Purpura ORPHA:90051
Hereditary Folate Malabsorption
Pallor ORPHA:90045
Fructose-1,6-Bisphosphatase Deficiency
Pallor ORPHA:348
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Testicular atrophy, Abnormality of the Leydig cells, Hypospadias ORPHA:3063
Charge Syndrome
Polyhydramnios, Intrauterine growth retardation, Microphthalmia, Anophthalmia ORPHA:138
Rare Circulatory System Disease
Pallor ORPHA:98028
Holoprosencephaly 9
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610829
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Pallor OMIM:300908
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Pallor OMIM:194380
Dominant Beta-Thalassemia
Pallor, Skin ulcer ORPHA:231226
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Pallor ORPHA:331206
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia ORPHA:2538
Woodhouse-Sakati Syndrome
Micropenis, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Streak ovary, Decreased t... ORPHA:3464
Beta-Ketothiolase Deficiency
Pallor ORPHA:134
Rett Syndrome
Abnormal T-wave, Prolonged QTc interval OMIM:312750
Exercise-Induced Malignant Hyperthermia
Hypocalcemia, Abnormal pulse pressure, Hypotension, Sinus tachycardia, ST segment depression, Abn... ORPHA:466650
Retinitis Pigmentosa And Erythrocytic Microcytosis
Pallor OMIM:616959
Aregenerative Anemia
Pallor ORPHA:101096
Congenital Sialidosis Type 2
Telangiectasia, Abnormal EKG ORPHA:93400
Cocaine Intoxication
Ventricular arrhythmia, Ischemic stroke, Prolonged QRS complex, Supraventricular arrhythmia, Hypo... ORPHA:90068
Dextrocardia
T-wave inversion, Abnormal EKG ORPHA:1666
Non-Functioning Pituitary Adenoma
Pallor ORPHA:91349