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Gene: S100a1 MGI:1338917

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Gene Summary

Name:
S100 calcium binding protein A1
Synonyms:
S100a,  S100

Order Alleles

IMPC Data Collections

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
anophthalmia S100a1em1(IMPC)Mbp HOM Early adult 0.00
enlarged testis S100a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal testis morphology S100a1em1(IMPC)Mbp HOM Early adult 0.00
abnormal eye morphology S100a1em1(IMPC)Mbp HOM Early adult 0.00
small testis S100a1em1(IMPC)Mbp HOM Early adult 0.00
cataract S100a1em1(IMPC)Mbp HOM Early adult 2.75×10-05
abnormal vitreous body morphology S100a1em1(IMPC)Mbp HOM Early adult 8.68×10-06
abnormal auditory brainstem response S100a1em1(IMPC)Mbp HOM   Early adult 5.64×10-05

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by S100a1 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 S100a1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Major Affective Disorder 1
Mania, Depression OMIM:125480
Major Depressive Disorder
Depression OMIM:608516
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder, Depression OMIM:613003
Severe Primary Trimethylaminuria
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... ORPHA:468726
Advanced Sleep Phase Syndrome, Familial, 3
Depression OMIM:616882
Familial Alzheimer-Like Prion Disease
Deficit in phonologic short-term memory, Depression, Cognitive impairment, Attention deficit hype... ORPHA:280397
Mitochondrial Complex Ii Deficiency, Nuclear Type 2
Irritability OMIM:619166
Advanced Sleep Phase Syndrome, Familial, 1
Depression OMIM:604348
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Obsessive-Compulsive Disorder
Collectionism, Compulsive behaviors, Skin-picking, Depression OMIM:164230
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Atrial Septal Defect, Coronary Sinus Type
Bundle branch block, Right ventricular dilatation, Unroofed coronary sinus, Anomalous pulmonary v... ORPHA:99104
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Firs... OMIM:615344
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a... OMIM:615343
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... OMIM:265450
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Dyspnea, Congestive heart failu... ORPHA:275766
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cryptorchidism, Cataract, Abnormal antihelix morphology, Hearing impairment OMIM:274205
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Cough, Decreased DLCO, ... OMIM:234810
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Epilepsy, Nocturnal Frontal Lobe, 2
Aggressive behavior, Depression OMIM:603204
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Cyanosis, Congestive heart failure, ... ORPHA:2414
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Epilepsy, Nocturnal Frontal Lobe, 5
Aggressive behavior, Depression OMIM:615005
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Syncope, Right ventricular hypertrophy, Pulmonary art... OMIM:265400
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Increased pulmonary vascular resistanc... ORPHA:70591
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Brunner Syndrome
Self-injurious behavior, Low frustration tolerance, Impulsivity, Aggressive behavior OMIM:300615
Polymyoclonus, Infantile
Irritability OMIM:263550
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Hepatomegaly, Respir... ORPHA:60025
Pandas
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... ORPHA:66624
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Edema, Familial Idiopathic, Prepubertal
Irritability OMIM:129840
Heparin-Induced Thrombocytopenia
Cerebral ischemia, Myocardial infarction, Pulmonary embolism ORPHA:3325
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... ORPHA:2041
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Partington Syndrome
Macroorchidism, EEG abnormality ORPHA:94083
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Microcoria, Anophthalmia, Iris coloboma OMIM:616428
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Infertility, Hearing impairment OMIM:300719
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Dyspnea, Splenomegaly, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitia... OMIM:612387
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Sup... ORPHA:97214
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia, Cardiomyopathy OMIM:619003
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Atelectasis, Hypoxemia, Abnormal... ORPHA:70588
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Recurrent... OMIM:106700
Intellectual Developmental Disorder, X-Linked, Syndromic 11
Macroorchidism, Macrotia, Bilateral sensorineural hearing impairment OMIM:300238
Spastic Paraparesis And Deafness
Cataract, Hypogonadism, Hearing impairment OMIM:312910
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Limited Cutaneous Systemic Sclerosis
Pulmonary arterial hypertension, Telangiectasia of the skin, Pulmonary fibrosis, Mucosal telangie... ORPHA:220402
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea, Heart murmur, Tel... ORPHA:2038
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph... ORPHA:217563
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Iris coloboma OMIM:611638
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Microphthalmia, Syndromic 12
Anophthalmia, Cryptorchidism, Bicornuate uterus, Microphthalmia OMIM:615524
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Microphthalmia, Syndromic 5
Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Cryptorchidism, Micr... OMIM:610125
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Cryptorchidism, Sensorineural hearing impairment, Microcorn... ORPHA:139471
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Macrotia OMIM:300886
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Stuve-Wiedemann Syndrome 2
Respiratory distress, Pulmonary arterial hypertension, Congestive heart failure OMIM:619751
Pick Disease Of Brain
Abnormal repetitive mannerisms, Frontotemporal dementia, Irritability, Disinhibition, Inappropria... OMIM:172700
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Primary amenorrhe... OMIM:614840
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstitial pneumonitis, T... OMIM:265120
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Bronchitis, Cardiomegaly, Patent duc... OMIM:601005
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Abnormal emotion, Progressive language deteriora... ORPHA:168782
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure, Pulmonary edema OMIM:178400
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Intellectual Developmental Disorder, Autosomal Recessive 54
Emotional lability, Attention deficit hyperactivity disorder OMIM:617028
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Auditory Neuropathy, Autosomal Dominant 1
Sensorineural hearing impairment, Abnormal auditory evoked potentials OMIM:609129
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior ORPHA:208441
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Microphthalmia, Isolated 4
Microphthalmia, Absent testis OMIM:613094
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, External genital hypoplasia, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphtha... ORPHA:363741
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Frontotemporal Dementia
Frontotemporal dementia, Frontal lobe dementia, Irritability, Dementia, Disinhibition, Inappropri... OMIM:600274
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemot... ORPHA:199241
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy, Hearing impairment OMIM:165300
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Atkin-Flaitz Syndrome
Macroorchidism, Macrotia ORPHA:1193
Spastic Paraparesis-Deafness Syndrome
Sensorineural hearing impairment, Cataract, Hypogonadism ORPHA:2815
X-Linked Intellectual Disability, Shashi Type
Macroorchidism, Macrotia ORPHA:85286
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Pulmonary arterial hypertension, Cardiomegaly OMIM:619064
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Pulmonary arterial hypertension,... OMIM:212350
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Pate... ORPHA:980
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia OMIM:601794
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Atrial septal defect, Left-to-right shunt, Cyanosis, Ventricula... ORPHA:99050
Megalencephaly
Macroorchidism, Long penis ORPHA:2477
Oculocerebrocutaneous Syndrome
Microphthalmia, Cryptorchidism, Anophthalmia OMIM:164180
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Cryptorchidism, Abnormal antihelix morphology, Hypoplasia of the antihelix, Hearing imp... ORPHA:2489
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Cough, ... ORPHA:185
Fragile X Syndrome
Macroorchidism, postpubertal, Macrotia, Congenital macroorchidism OMIM:300624
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Nathalie Syndrome
Sensorineural hearing impairment, Cataract ORPHA:2663
Intellectual Developmental Disorder, X-Linked 21
Macroorchidism, Uplifted earlobe OMIM:300143
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hypoplasia of penis, Anophthalmia, Hypospadias, Sclerocornea, Cryptorchidism, Microphthalmia, Iri... ORPHA:77298
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury... ORPHA:228116
17Q11.2 Microduplication Syndrome
Macroorchidism ORPHA:139474
Congenital Tracheomalacia
Apnea, Cardiomegaly, Decreased peak expiratory flow, Cough, Atrial septal defect, Emphysema, Sing... ORPHA:95430
Antisynthetase Syndrome
Aortic regurgitation, Recurrent respiratory infections, Telangiectasia of the skin, Myocarditis, ... ORPHA:81
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True ... OMIM:615113
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular hypertrophy OMIM:300887
Familial Isolated Restrictive Cardiomyopathy
Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Hepato... ORPHA:75249
Cirrhotic Cardiomyopathy
Prolonged QT interval, Hepatomegaly, Elevated jugular venous pressure, Left atrial enlargement, C... ORPHA:57777
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Focal EEG discharges with secondary generalization ORPHA:3077
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Macroorchidism, Male hypogonadism, Juvenile cataract, Macrotia, EEG with generalized slow activity OMIM:300055
Yellow Nail Syndrome
Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini... ORPHA:662
Gaucher Disease, Type I
Hepatomegaly, Epistaxis, Dyspnea, Splenomegaly, Abnormal pulmonary interstitial morphology, Hyper... OMIM:230800
Lipoyltransferase 1 Deficiency
Pulmonary arterial hypertension, Bradycardia OMIM:616299
Trisomy 13
Cataract, Anophthalmia, Cryptorchidism, Sensorineural hearing impairment, Optic atrophy, Aplasia/... ORPHA:3378
Keutel Syndrome
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... ORPHA:85202
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Walker-Warburg Syndrome
Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Anophthalmia, Posteriorly rot... ORPHA:899
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials OMIM:601382
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Atelectasis, Bronchie... OMIM:620233
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Cataract, Hypogonadism, Decreased testicular size ORPHA:1875
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract, Hypogonadism OMIM:254000
Fragile X Syndrome
Macroorchidism, Protruding ear ORPHA:908
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Patent ductus arteriosus, Aortic v... ORPHA:1457
Leukoencephalopathy With Vanishing White Matter 2
Premature ovarian insufficiency, Optic atrophy, Secondary amenorrhea, Cataract OMIM:620312
Cataract 11, Multiple Types
Microphthalmia, Cataract, Developmental cataract OMIM:610623
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Lujan-Fryns Syndrome
Macroorchidism, Low-set ears, Protruding ear ORPHA:776
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Sensorineural hearing impairment, Cataract, Developmental cataract OMIM:613076
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Aplasia/Hypoplasia of the lens, Cryptorchidism ORPHA:1381
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Fryns Microphthalmia Syndrome
Microphthalmia, Macrotia, Anophthalmia OMIM:600776
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pulmonary arterial hypertension OMIM:619059
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome
Low-set, posteriorly rotated ears, Cryptorchidism, Hypoplasia of penis, Aplasia/Hypoplasia of the... ORPHA:3055
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract, Hypogonadism ORPHA:2528
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Respiratory insufficiency,... OMIM:617021
Xp22.13P22.2 Duplication Syndrome
Macroorchidism, Hearing impairment, Polycystic ovaries ORPHA:284180
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Dyspnea, Congestive heart failure, Pulmonary fibrosis, Pulmonary arte... ORPHA:220393
Braddock Syndrome
Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary fibrosis ORPHA:52047
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Clark-Baraitser syndrome
Macroorchidism OMIM:300602
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Pulmonary arterial hypertension, Recurrent upper respiratory tract infections, Abnormal heart mor... ORPHA:391372
Meckel Syndrome, Type 8
Ambiguous genitalia, Microphthalmia, Anophthalmia, Low-set ears OMIM:613885
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Cockayne Syndrome Type 2
Anophthalmia, Cryptorchidism, Developmental cataract, Conjunctivitis, Male hypogonadism, Macrotia... ORPHA:90322
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Microphthalmia, Iris ... ORPHA:231736
Adams-Oliver Syndrome 5
Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hypertension, Paten... OMIM:616028
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Macroorchidism, Unilateral microphthalmos, Hypospadias, Iris coloboma OMIM:618874
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, M... ORPHA:1473
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Matthew-Wood Syndrome
Anophthalmia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Low-... ORPHA:2470
Hypogonadism-Cataract Syndrome
Cataract, Hypogonadism, Elevated circulating follicle stimulating hormone level, Infertility, Mal... OMIM:240950
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Microphthalmia, Cryptorchidism, Cataract, Optic disc pallor OMIM:613730
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Prominent ear helix, Multifocal epileptiform discharges, Hypsarrhythmia, Large earlobe ORPHA:411986
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:600376
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Tachypnea, Hypertension, Cardiomegaly OMIM:613320
Erythrocytosis, Familial, 2
Hypotension, Pulmonary arterial hypertension, Cerebral hemorrhage OMIM:263400
Multisystemic Smooth Muscle Dysfunction Syndrome
Hypoperistalsis, Patent ductus arteriosus, Tachypnea, Hypertension, Atrial septal defect, Pulmona... OMIM:613834
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... OMIM:309300
Craniofaciofrontodigital Syndrome
Respiratory distress, Gastrointestinal hemorrhage, Persistent fetal circulation, Bicuspid aortic ... ORPHA:363705
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Hepatomegaly, Splenomegaly, Mitral regurg... OMIM:607015
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Cryptorchidism, Low-set ears, Abnormal fallopian... ORPHA:2189
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Hypoplasia of penis, Cataract, Sensorineural he... ORPHA:791
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Pulmonary hypopl... OMIM:608149
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea OMIM:614857
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart... ORPHA:3309
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Hearing impairment OMIM:120433
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... ORPHA:210122
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypo... OMIM:206900
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Anophthalmia, Cataract, Cryptorchidism, Optic atrophy, Pigme... ORPHA:90321
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Ectopia pupil... OMIM:615877
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract, Hypergonadotropic hypogonadism, Cryptorchidism, Se... ORPHA:3085
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Familial Thrombocytosis
Transient ischemic attack, Splenomegaly, Syncope, Cerebral ischemia, Pulmonary arterial hypertension ORPHA:71493
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cataract, Anophthalmia, External genital hypoplasia, Cryptorchidism, Hypogon... ORPHA:2250
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, ... ORPHA:2519
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Overlap Myositis
Raynaud phenomenon, Abnormal pulmonary interstitial morphology, Abnormal heart morphology, Hypert... ORPHA:206572
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Dyspnea, Myocarditis, Splenomegaly, Abno... ORPHA:809
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Bradycardia OMIM:619272
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Lymphoid Interstitial Pneumonia
Multiple pulmonary cysts, Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Respirat... ORPHA:79128
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Coats Disease
Aplasia/Hypoplasia of the iris, Retinal detachment, Cataract, Abnormal anterior chamber morphology ORPHA:190
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Congestive heart failure, Patent d... ORPHA:90308
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Overfolded helix, Macrotia ORPHA:324410
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Abnormal tragus morphology,... ORPHA:66625
Laurence-Moon Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Cataract, Cryptorchidism, Sensorineural h... ORPHA:2377
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dyspnea... OMIM:614921
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Anophthalmia, Iris coloboma ORPHA:1104
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Hypoxemia, Restricti... ORPHA:90060
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Stickler Syndrome Type 2
Retinal detachment, Sensorineural hearing impairment, Cataract, Corneal opacity ORPHA:90654
Systemic Sclerosis
Pericarditis, Nail bed telangiectasia, Right ventricular failure, Raynaud phenomenon, Dyspnea, My... ORPHA:90291
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... ORPHA:209905
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials OMIM:125250
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract ORPHA:1069
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... ORPHA:320401
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction... ORPHA:221
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Cardiomegaly, Tachypnea, Dextrotransposition of the great arteries, Abnormality of... ORPHA:860
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, Male pseudoherm... ORPHA:90790
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Anencephaly 2
Anophthalmia OMIM:619452
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality OMIM:617519
Microphthalmia With Limb Anomalies
Anophthalmia, Posteriorly rotated ears, Unilateral cryptorchidism, Low-set ears, Microphthalmia OMIM:206920
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Pericardial effusion, Restrictive ventilatory d... ORPHA:2905
Cirrhosis, Familial
Pulmonary arterial hypertension, Hypertension OMIM:215600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Macular atrophy, Abnormal auditory evoked potentia... OMIM:619260
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Trisomy 1Q
Small scrotum, Anophthalmia, Cryptorchidism, Low-set ears, Ambiguous genitalia ORPHA:261344
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Tachycardia, Tricuspid regurgitation, Con... ORPHA:505248
Gaucher Disease Type 1
Hepatomegaly, Pericardial effusion, Abnormal myocardium morphology, Splenomegaly, Abnormal pulmon... ORPHA:77259
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Pulmonary ... ORPHA:974
Trisomy 20P
Low-set, posteriorly rotated ears, Hypospadias, Cryptorchidism, Protruding ear, Abnormal antiheli... ORPHA:261318
Ravine Syndrome
Abnormal auditory evoked potentials ORPHA:99852
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Hypergonadotropic Hypogonadism-Cataract Syndrome
Cataract, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of se... ORPHA:2410
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Dyspnea, Patent ductus arteriosus, Pulmonary arterial hypertension ORPHA:261279
Spastic Paraplegia Type 2
Recurrent respiratory infections, Pulmonary embolism ORPHA:99015
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc pallor, Microphthalmia OMIM:251270
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Sensorineural hearing impairment, Optic atrophy, L... OMIM:310600
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... OMIM:616449
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Respiratory failure, Pulmonary art... OMIM:616482
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Meckel Syndrome
Low-set, posteriorly rotated ears, True hermaphroditism, Pancreatic fibrosis, Cataract, Sclerocor... ORPHA:564
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Vacterl With Hydrocephalus
Anophthalmia, Microtia, third degree, Cryptorchidism, Microcornea, Anotia, Abnormal fallopian tub... ORPHA:3412
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Abnormal lung lobation, Atrial septal defect, Atri... OMIM:265380
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Optic disc colobom... OMIM:120200
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Abnormally folded helix, Low-set ears OMIM:309520
Myotonic Dystrophy 1
Cataract, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Congestive heart failure, Hypertension, Ischemic stroke, Cerebral isch... ORPHA:1830
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Patent ductus arteriosus, He... OMIM:602782
Gaucher Disease Type 3
Recurrent respiratory infections, Hepatomegaly, Mitral valve calcification, Abnormal heart valve ... ORPHA:77261
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pericardial effusion, Dyspnea, Splenomegaly, Bronchiectasis, Abnormal pulmonary int... OMIM:181000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Leukocoria, Microcornea, Buph... OMIM:221900
Schimke Immunoosseous Dysplasia
Transient ischemic attack, Dyspnea, Hypertension, Cerebral ischemia, Pulmonary arterial hypertension OMIM:242900
Wolfram Syndrome 1
Cataract, Diabetes mellitus, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy,... OMIM:222300
Beta-Thalassemia Intermedia
Hepatomegaly, Splenomegaly, High-output congestive heart failure, Hepatosplenomegaly, Pulmonary a... ORPHA:231222
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Cryptorchidism, Aniridia, Megalocornea ORPHA:1101
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Recurrent respiratory infections, Hepatomegaly, Cor triatriatum, Secundum atrial septal defect, S... OMIM:612541
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Infantile Spasms-Broad Thumbs Syndrome
EEG abnormality, Optic disc pallor, Vaginal hernia, Cataract ORPHA:3173
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Small scrotum, Anophthalmia, Anterior pituitary hypoplasia, Adrenal hypoplas... ORPHA:264200
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, External genital hypoplasia, Abnormality of the testis size, L... ORPHA:99330
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Splenomegaly, Recurrent upper respiratory tract... OMIM:253200
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Lens subluxation, Lattice retinal degeneration OMIM:614292
Lymphatic Malformation 13
Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hyperten... OMIM:620244
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Sensorineural hearing impairment, Abnormal auditory evoked potentials, Abnormally... OMIM:109120
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
49,Xxxyy Syndrome
Low-set, posteriorly rotated ears, Decreased serum testosterone concentration, External genital h... ORPHA:261534
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Hepatomegaly, Tricuspid regurgitation, Cyanos... ORPHA:555874
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Microphthalmia, Micropenis, Hearing impairment OMIM:610756
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Micropenis, Hypoplasia of the ... OMIM:614841
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Warburg Micro Syndrome 2
Small scrotum, Cataract, Asymmetry of the ears, Cryptorchidism, Optic atrophy, Developmental cata... OMIM:614225
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Subvalvular aortic stenosis ORPHA:65286
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Solitary Median Maxillary Central Incisor
Microphthalmia, Anterior hypopituitarism, Anophthalmia, Decreased response to growth hormone stim... OMIM:147250
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... OMIM:610256
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Dyspnea, Right bundle branch block, Hypertension, Mitral regurgitation, ... OMIM:614008
Gm2 Gangliosidosis, Ab Variant
Abnormal fear-induced behavior, Inappropriate behavior, Cognitive impairment ORPHA:309246
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Cryptorchidism, Primary amen... OMIM:616030
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension, Patent ductus arteriosus, Recurrent respiratory infec... ORPHA:2282
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Macular atrophy, Corneal scarring, Buphthalmos, Microphthalmia, Iri... OMIM:212550
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Central Precocious Puberty In Male
Abnormal response to gonadotropin-releasing hormone stimulation test, Pituitary microadenoma, Abn... ORPHA:649929
Porphyria Due To Ala Dehydratase Deficiency
Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium ORPHA:100924
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Diabetes mellitus, Sensorineural hearing impairment, Optic a... ORPHA:1215
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Posterior embryotoxon, Anophthalm... ORPHA:2556
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Warburg Micro Syndrome 3
Small scrotum, Cataract, Hypoplastic labia minora, Optic atrophy, Developmental cataract, Microco... OMIM:614222
Retinitis Pigmentosa 84
Macular atrophy, Bone spicule pigmentation of the retina, Cataract, Macular coloboma OMIM:618220
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Neonatal respiratory distress, Ventricular septal defect, Aortopulmonary window, Pu... OMIM:620025
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hypertension, Hypopl... OMIM:100300
Fg Syndrome Type 1
Atrial septal defect, Pulmonary arterial hypertension, Mitral valve prolapse ORPHA:93932
Glycogen Storage Disease Ic
Hepatomegaly, Spider hemangioma, Recurrent upper respiratory tract infections, Hypertension, Pulm... OMIM:232240
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Decreased circulating luteinizing hormone level, Decreased ci... OMIM:614897
Stickler Syndrome, Type V
Retinal detachment, Sensorineural hearing impairment, Cataract OMIM:614284
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
X-Linked Intellectual Disability, Nascimento Type
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Double out... ORPHA:163956
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... OMIM:601596
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Microphthalmia, Syndromic 9
Anophthalmia, Cryptorchidism, Bilateral microphthalmos, Hypoplasia of the uterus, Bicornuate uter... OMIM:601186
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Stridor, Pulmonary arterial hypertension, Prolonged QT interval OMIM:620029
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia, Vaginal atresia OMIM:248450
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Internal hemorrhage, Hepatomegaly, Peric... ORPHA:99827
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Concentri... ORPHA:550
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Hereditary Bullous Dystrophy, Macular Type
Cataract, Corneal opacity, External genital hypoplasia, Cryptorchidism, Decreased testicular size ORPHA:1867
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalac... OMIM:234100
Microphthalmia, Syndromic 2
Retinal detachment, Anophthalmia, Hypospadias, Remnants of the hyaloid vascular system, Septate v... OMIM:300166
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Recurrent pneumonia, Ventricular septal de... ORPHA:464738
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Micro Syndrome
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Hypoplasia of penis, Cata... ORPHA:2510
Ogden Syndrome
Apnea, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Ventricular tachycardi... OMIM:300855
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Patent ductus arteriosus, Bidirectional shunt... OMIM:619351
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Acute respiratory distress syndrome, Portal hypertension, Wheezing, Patent ductus arteriosus, Res... OMIM:620005
Chromosome Xp11.3 Deletion Syndrome
Cataract, Cryptorchidism, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy OMIM:300578
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... OMIM:601455
Cerebrooculonasal Syndrome
Anophthalmia, Posteriorly rotated ears, Optic nerve hypoplasia, Low-set ears, Hypoplastic male ex... OMIM:605627
Carey-Fineman-Ziter Syndrome 1
Pulmonary arterial hypertension, Abnormal cardiac septum morphology, Respiratory insufficiency OMIM:254940
Incontinentia Pigmenti
Telangiectasia of the skin, Congestive heart failure, Retinal hemorrhage, Cerebral ischemia, Pulm... ORPHA:464
Nance-Horan Syndrome
Retinal detachment, Cataract, Protruding ear, Microcornea, Microphthalmia ORPHA:627
Marshall-Smith Syndrome
Apnea, Ventricular septal defect, Dysplastic aortic valve, Patent ductus arteriosus, Recurrent up... OMIM:602535
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Cataract, Corneal guttata OMIM:193230
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Anophthalmia, External ear malformation, Cryptorchidism, ... ORPHA:2162
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal h... ORPHA:79282
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Sensorineural hearing impairment, Prelingual sensorineural h... ORPHA:52368
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ovarian serous cystadenoma... ORPHA:1359
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Patent foramen ovale, Patent ductus arteriosus, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:280633
Stuve-Wiedemann Syndrome 1
Apnea, Pulmonary arterial medial hypertrophy, Respiratory insufficiency, Pulmonary hypoplasia, Pu... OMIM:601559
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Cryptorchidism, Optic atrophy, Microcornea, Microtia, Vaginal at... ORPHA:3301
Abcd Syndrome
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... OMIM:600501
Autosomal Recessive Malignant Osteopetrosis
Recurrent respiratory infections, Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splen... ORPHA:667
Charge Syndrome
Bifid scrotum, Anophthalmia, Hypoplasia of the semicircular canal, Micropenis, Iris coloboma, Low... ORPHA:138
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Pulmonary arterial hypertension, Laryngotrac... OMIM:618454
15Q Overgrowth Syndrome
Pulmonary arterial hypertension, Mitral regurgitation, Tricuspid regurgitation ORPHA:314585
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Congestive heart failure, Recurrent upper respiratory tract infections, Bronchiectasis, Renovascu... ORPHA:391487
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cataract, Cochlear degeneration ORPHA:3233
Xeroderma Pigmentosum, Complementation Group B
Cataract, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, P... OMIM:610651
Kapur-Toriello Syndrome
Cataract, Cryptorchidism, Hypoplastic labia majora, Retinal coloboma, Low-set ears, Conductive he... OMIM:244300
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Dilated cardiomyopathy, Biventricular hypertrophy, Hypertension, Third degree atrio... OMIM:619573
Fraser Syndrome 1
Anophthalmia, Hypospadias, Corneal opacity, Abnormal pinna morphology, Cryptorchidism, Bilateral ... OMIM:219000
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re... ORPHA:1677
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Thickened heli... ORPHA:2714
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Aortic valve... ORPHA:740
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Congestive heart failure, Asthma, Patent ductus arteriosus, Abnormal h... ORPHA:444077
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Norrie Disease
Sclerocornea, Abnormal pupil morphology, Protruding ear, Hypoplasia of the iris, Uterine rupture,... ORPHA:649
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium m... ORPHA:355
Proteus Syndrome
Abnormality of retinal pigmentation, Thymus hyperplasia, Cataract, Central heterochromia, Testicu... ORPHA:744
Proboscis Lateralis
Cataract, Corneal opacity, External genital hypoplasia, Anophthalmia, Optic nerve hypoplasia, Opt... ORPHA:141099
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Recurrent lower respiratory tract infections, Budd-Chiari syndrome, Pulmonary embolism OMIM:226300
Arthrogryposis, Distal, Type 2A
Cryptorchidism, Abnormal auditory evoked potentials, Hearing impairment OMIM:193700
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Anophthalmia, Cataract, Optic atrophy, P... ORPHA:2526
Cockayne Syndrome B
Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased nerve conduction veloci... OMIM:133540
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:165550
Otodental Syndrome
High-frequency sensorineural hearing impairment, Cataract, Lens coloboma, Microcornea, Retinal co... ORPHA:2791
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Anophthalmia, Adrenal hypoplasia, Sclerocornea, Uplifted earl... OMIM:607932
Cataract 47
Microcornea, Cataract OMIM:612018
Mend Syndrome
Cataract, Abnormal auditory evoked potentials, Cryptorchidism, Low-set ears, Microphthalmia ORPHA:401973
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, External genital hypoplasia,... OMIM:214800
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Thickened helices, Precocious puberty, Low-set ears, Macroorchidism, Hearing impairment OMIM:619950
Cockayne Syndrome A
Cataract, Retinal atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decrea... OMIM:216400
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Splenomegaly, Aortic valve calcific... ORPHA:2072
Overhydrated Hereditary Stomatocytosis
Splenomegaly, Hepatomegaly, Pulmonary embolism OMIM:185000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Mi... OMIM:614643
Microphthalmia, Lenz Type
Low-set, posteriorly rotated ears, Cataract, Hypospadias, External ear malformation, Cryptorchidi... ORPHA:568
8Q21.11 Microdeletion Syndrome
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Hearing impairment, Cryptorchidism,... ORPHA:284160
Melnick-Needles Syndrome
Pulmonary arterial hypertension, Recurrent respiratory infections, Tricuspid valve prolapse, Mitr... OMIM:309350
Oculoauricular Syndrome
Retinal detachment, Cataract, Sclerocornea, Absent earlobe, Developmental cataract, Microcornea, ... OMIM:612109
Lysosomal Acid Lipase Deficiency
Pulmonary arterial hypertension, Hypovolemia, Hypotension, Hepatosplenomegaly ORPHA:275761
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Branchiooculofacial Syndrome
Cataract, Hypospadias, Anophthalmia, Supernumerary nipple, Facial palsy, Posteriorly rotated ears... OMIM:113620
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... OMIM:609136
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya... OMIM:609049
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Fraser Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Small scrotum, Hypospadias, Anophthalmia,... ORPHA:2052
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cataract, Facial palsy, Sensorin... OMIM:157640
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, P... OMIM:612289
Familial Exudative Vitreoretinopathy
Cataract, Rhegmatogenous retinal detachment, Abnormal optic disc morphology, Retinal neovasculari... ORPHA:891
Schwartz-Jampel Syndrome
Pulmonary arterial hypertension, Arrhythmia, Apnea, Respiratory insufficiency ORPHA:800
Idiopathic Steroid-Resistant Nephrotic Syndrome
Respiratory tract infection, Pulmonary embolism ORPHA:567548
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Protruding ear, Microcornea, Keratoconjunctivitis sicc... ORPHA:1806
Degcags Syndrome
Atrial septal defect, Tachycardia, Hepatomegaly, Ventricular septal defect, Pneumonia, Patent duc... OMIM:619488
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Amoebic Keratitis
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... ORPHA:67043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Cataract, Corneal opacity, Optic nerve hypoplasia, Retinal atrophy, Peters an... OMIM:236670
Wagro Syndrome
Cataract, Corneal opacity, Low-set ears, Aniridia, Hypoplastic female external genitalia, Decreas... OMIM:612469
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Atrial septal defect, Pulmonary arterial hypertension, Patent f... OMIM:620186
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... OMIM:305400
Ctcf-Related Neurodevelopmental Disorder
Patent ductus arteriosus, Mitral regurgitation, Atrial septal defect, Pulmonary arterial hyperten... ORPHA:363611
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Focal Dermal Hypoplasia
Mixed hearing impairment, Anophthalmia, Supernumerary nipple, Ectopia lentis, Cryptorchidism, Opt... OMIM:305600
Fibular Hemimelia
Anophthalmia, Abnormal anterior chamber morphology ORPHA:93323
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricular septal defect, Atri... OMIM:619534
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529799
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Senso... ORPHA:529808
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Patent ductus arteriosus, Bicuspi... OMIM:613355
Aniridia 3
Aniridia, Cataract OMIM:617142
Blau Syndrome
Pericarditis, Dyspnea, Splenomegaly, Large vessel vasculitis, Hypertension, Pulmonary arterial hy... ORPHA:90340
Generalized Arterial Calcification Of Infancy
Respiratory distress, Ventricular hypertrophy, Cyanosis, Transient ischemic attack, Cardiomegaly,... ORPHA:51608
Late-Infantile/Juvenile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... ORPHA:206443
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Spontaneous pneumothorax, Pulmonary arteriovenous malformation, Hyperten... OMIM:606721
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Adult-Onset Autosomal Dominant Leukodystrophy
Orthostatic hypotension, Abnormal auditory evoked potentials, Abnormality of somatosensory evoked... ORPHA:99027
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Pulmonary artery stenosis, Hepatosplenomegaly, Restricti... ORPHA:96334
Joubert Syndrome 21
Sensorineural hearing impairment, Anophthalmia, Optic atrophy, Megalopapilla OMIM:615636
Microphthalmia With Limb Anomalies
Low-set, posteriorly rotated ears, Cryptorchidism, Optic atrophy, Large earlobe, Microphthalmia, ... ORPHA:1106
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, EEG abnormality, Erectile dysfunction ORPHA:206448
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Respiratory tract infection, Dyspnea, Hypertension, Pleural effusion ORPHA:567546
Tetrasomy 9P
Pericarditis, Dextrocardia, Raynaud phenomenon, Abnormal cardiac septum morphology, Pulmonary hyp... ORPHA:3310
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Leukodystrophy, Hypomyelinating, 13
Prolonged brainstem auditory evoked potentials, Optic atrophy OMIM:616881
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Sensorineural hearing impai... OMIM:268315
Bosma Arhinia Microphthalmia Syndrome
Cataract, Hypogonadotropic hypogonadism, Hypospadias, Absent tragus, Abnormal pinna morphology, C... OMIM:603457
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Abnormal lung morphology, Renovascular hypertension, Abnormal heart m... ORPHA:97685
Osteopetrosis With Renal Tubular Acidosis
Pulmonary arterial hypertension, Hepatomegaly ORPHA:2785
Charcot-Marie-Tooth Disease Type 1F
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... ORPHA:101085
Exudative Vitreoretinopathy 6
Retinal detachment, Cataract, Patchy atrophy of the retinal pigment epithelium, Nuclear cataract,... OMIM:616468
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Hypospadias, Sclerocornea, Ovotestis, Hypoplasia of the uterus, Pigmentary retinopathy,... OMIM:309801
Aspartylglucosaminuria
Macroorchidism, Cataract OMIM:208400
Microgastria-Limb Reduction Defect Syndrome
Microphthalmia, Anophthalmia, Rectovaginal fistula, Perineal fistula ORPHA:2538
Cog1-Cdg
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly ORPHA:263508
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal auditory evoked potentials, Decreased nerve conduct... ORPHA:909
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism,... ORPHA:3260
Infantile Krabbe Disease
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Optic atroph... ORPHA:206436
48,Xxxy Syndrome
Recurrent respiratory infections, Asthma, Pulmonary embolism ORPHA:96263
Viss Syndrome
Atrial septal defect, Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement,... OMIM:619472
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Atelis Syndrome 2
Remnants of the hyaloid vascular system, Elevated circulating thyroid-stimulating hormone concent... OMIM:620185
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Anis... ORPHA:263479
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
49,Xxxxy Syndrome
Recurrent respiratory infections, Asthma, Pulmonary embolism ORPHA:96264
Microphthalmia, Syndromic 1
Anophthalmia, Hypospadias, Abnormal pinna morphology, Aganglionic megacolon, Cryptorchidism, Opti... OMIM:309800
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Pulmonary... ORPHA:117
Trisomy 10P
Absent gallbladder, Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst... ORPHA:171929
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Intracranial hemorrhage, Hypertens... ORPHA:394
Aspartylglucosaminuria
Macroorchidism, Microtia ORPHA:93
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Dehydrated Hereditary Stomatocytosis
Splenomegaly, Pulmonary venous hypertension ORPHA:3202
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Neuroleptic Malignant Syndrome
Tachycardia, Pulmonary embolism, Hypertension, Bradycardia, Hypotension, Aspiration pneumonia, Ar... ORPHA:94093
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
X-Linked Intellectual Disability, Snyder Type
Hypospadias, Asymmetry of the ears, Cryptorchidism, Cupped ear, EEG abnormality, Abnormality of t... ORPHA:3063
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Uni... OMIM:619539
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Posterior... ORPHA:637
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Pulmonary embolism ORPHA:444490
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmonary arterial... OMIM:216340
Sympathetic Ophthalmia
Papilledema, Retinal detachment, Cataract, Retinal hemorrhage, Anterior chamber cells, Posterior ... ORPHA:79098
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Alström Syndrome
Respiratory distress, Hepatomegaly, Portal hypertension, Chronic bronchitis, Congestive heart fai... ORPHA:64
Cystic Echinococcosis
Ovarian cyst, Abnormality of the testis size ORPHA:400
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Epistaxis, Hypertension, Pulmonary venous hypertension, Enlarged kidney ORPHA:79259
Craniofacial Microsomia 1
Anophthalmia, Conductive hearing impairment, Sensorineural hearing impairment, Anotia, Microtia, ... OMIM:164210
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Dyspnea, Hypertension, Budd-Chiari syndrome ORPHA:447
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353281
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Adrenal hypoplasia, Microphthalmia, Diabetes insipidus, ... OMIM:157170
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Social and occup... ORPHA:353277

Histopathology

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

There is no histopathology data for S100a1

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 S100a1.

No publications found that use IMPC mice or data for S100a1.

Order Mouse and ES Cells

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

MGI Allele Allele Type Produced
S100a1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
S100a1em1(IMPC)Mbp Inter-exon deletion Mice, Tissue
S100a1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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