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Gene: Wdr6 MGI:1930140

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Gene Summary

Name:
WD repeat domain 6
Synonyms:
N/A

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
increased fasting circulating glucose level Wdr6em1(IMPC)J HOM Early adult 1.57×10-09
limb grasping Wdr6em1(IMPC)J HOM Early adult 3.73×10-05
shortened RR interval Wdr6em1(IMPC)J HOM Early adult 3.39×10-05
improved glucose tolerance Wdr6em1(IMPC)J HOM Early adult 4.40×10-05
hyperactivity Wdr6em1(IMPC)J HOM Early adult 1.49×10-06
abnormal coat/hair pigmentation Wdr6em1(IMPC)J HOM Early adult 9.27×10-08

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Viewing: all phenotypes
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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.

Eye Morphology

Images Slit Lamp

2 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

7 Images

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Human diseases caused by Wdr6 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 Wdr6 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Schizophrenia 15
Hyperactivity OMIM:613950
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Woolly hair, Ventricular arrhythmia, Ventricular tachycardia, P... OMIM:611528
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of the yo... ORPHA:324575
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Dystonia, Dysphagia, Impulsivity OMIM:620448
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Maternal diabetes, Hypoketotic hypoglycemia, ... ORPHA:276580
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Agitation, Hyperinsulinemia, Fasting hypoglycemia, Hypoketotic hypoglycemia, Tremor, Tachycardia,... ORPHA:276608
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Impaired glucose tolerance, Type II diabetes mellitus, Glucose intolerance, Sudden ... OMIM:610947
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Obesity And Hypopigmentation
Hyperinsulinemia, Red hair, Polyphagia OMIM:620195
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Woolly h... OMIM:610193
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypoglycemic seizures, Agitation, Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemi... ORPHA:276575
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Wo... OMIM:607450
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Agitation, Hypoketotic hypoglycemia, Palpitations, Tachycardia, Polyphagia... ORPHA:276556
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hyperactivity, Tremor, Limb dystonia, Hypertrophic cardiomyopathy, Aggressive behavior OMIM:620270
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Griscelli Syndrome, Type 2
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:607624
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Oculocerebral Syndrome With Hypopigmentation
Athetosis, Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Abnormality of hair texture, Cardio... ORPHA:34217
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Polyphagia, Attention deficit hyperactivity disorder, Glucose into... ORPHA:369873
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Small nail, Hyperactivity, Tremor, Motor stereotypy, Aggressive behavior OMIM:619470
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Sick sinus syndrome, Attention deficit hyperactivity disorder, Bradycardia OMIM:617182
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Atrial Fibrillation, Familial, 15
Atrial fibrillation, Atrial flutter, Sudden cardiac death, Supraventricular tachycardia OMIM:615770
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Compulsive behaviors, Phonic tics, Dystonia, Aggressive behavior OMIM:301107
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Reduced left ventricular endsystolic diameter, Hypertrophic cardi... OMIM:612124
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Type 1 Diabetes Mellitus
Polydipsia, Diabetes mellitus, Hyperglycemia, Polyphagia OMIM:222100
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Self-injurious behavior, Aggressive behavior OMIM:619031
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Genera... ORPHA:33445
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Coffin-Siris Syndrome 8
Hyperactivity, Sparse scalp hair, Long eyelashes, Thick eyebrow, Self-injurious behavior, Hypertr... OMIM:618362
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular... OMIM:615441
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Hyperinsulinemia, Red hair, Hypopigmentation of the skin, Polyphagia ORPHA:71526
Wolff-Parkinson-White Syndrome
Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu... OMIM:194200
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613265
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Long Qt Syndrome 6
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c... OMIM:613693
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Tremor, Multiple cafe-au-lait spots, Type II... ORPHA:100
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity OMIM:301008
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Phenylketonuria
Hyperactivity, Generalized hypopigmentation, Compulsive behaviors, Attention deficit hyperactivit... OMIM:261600
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hyperactivity, Hypopigmentation of the skin, Polyphagia, Iris hypopigme... ORPHA:411515
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hyperinsulinemia, Fasting hypoglycemia, Hyperglycemia, Diabetic ketoacidosis, Onychauxis, Hypogly... OMIM:262190
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Stiff-Person Syndrome
Hypertension, Exaggerated startle response, Opisthotonus, Vitiligo, Tachycardia, Diabetes mellitus OMIM:184850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Hyperglycemia, Transien... ORPHA:99886
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Hemochromatosis, Type 4
Glucose intolerance, Hyperpigmentation of the skin, Cardiomyopathy, Impaired glucose tolerance, A... OMIM:606069
Naxos Disease
Congestive heart failure, Nail dystrophy, Right ventricular cardiomyopathy, Paroxysmal ventricula... OMIM:601214
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, Hypopigmentation of hair, Heterochromia ir... ORPHA:895
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus, Pigmentary retinopathy OMIM:520000
Long Qt Syndrome 9
Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia... OMIM:611818
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Increased left ventricular end-diastolic volume, Ventricular fibrillati... OMIM:619747
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Elejalde Neuroectodermal Melanolysosomal Syndrome
Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accumulation of melanos... OMIM:256710
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Hyperactivity, Diabetes mellitus, Blue irides, Fair hair OMIM:614613
Maturity-Onset Diabetes Of The Young, Type 13
Diabetes mellitus, Hyperglycemia, Maturity-onset diabetes of the young, Maternal diabetes OMIM:616329
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Abnormal eyela... ORPHA:2885
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Athetosis, Dystonia, Self-injurious behavior, Aggressive behavior ORPHA:382
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Trimethylaminuria
Tachycardia, Hypertension OMIM:602079
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperpigmentation of the skin, Hyperactivity, Attention defi... OMIM:619827
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Diabetes Mellitus, Permanent Neonatal, 3
Glycosuria, Type I diabetes mellitus, Athetosis, Hyperglycemia OMIM:618857
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Waardenburg-Shah Syndrome
Premature graying of hair, Hypopigmentation of hair, Synophrys, White forelock, Abnormal eyebrow ... ORPHA:897
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Tremor, Motor stereotypy, Self-injurious behavior, Bruxism, Paroxysmal bursts of l... OMIM:618718
Diabetes Mellitus, Permanent Neonatal, 4
Diabetic ketoacidosis, Type I diabetes mellitus, Hyperglycemia OMIM:618858
Peripartum Cardiomyopathy
Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Left bundle branch ... ORPHA:563
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Attention deficit hyperactivity d... ORPHA:79254
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Ventricular ... OMIM:613507
Lipodystrophy, Familial Partial, Type 3
Hyperinsulinemia, Maternal diabetes, Hirsutism, Hypertension, Hyperglycemia, Type II diabetes mel... OMIM:604367
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Polyphagia, Hypopigmentation of hair ORPHA:177910
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hyperinsulinemia, Agitation, Hypoketotic hypoglycemia, Fasting hypoglycemi... ORPHA:263455
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Anorexia, Congestive heart failure, Abnormal fear-induced behavior, Hyperactivity, Resting tremor... ORPHA:3077
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hyperactivity, Hypertension, Tremor, Limb dystonia, Generalized hirsutism, Insu... ORPHA:363400
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:277580
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Myotonic Dystrophy 2
Frontal balding, Right bundle branch block, Insulin insensitivity, Premature ventricular contract... OMIM:602668
Diabetes Mellitus, Permanent Neonatal, 1
Type I diabetes mellitus, Diabetes mellitus, Hyperglycemia OMIM:606176
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Intellectual Developmental Disorder, Autosomal Dominant 45
Neonatal hypoglycemia, Hyperactivity, Recurrent hand flapping, Pulmonic stenosis, Motor stereotyp... OMIM:617600
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertrophic cardiomyopathy, A... OMIM:612158
Short Qt Syndrome 3
Tachycardia, Palpitations, Shortened QT interval OMIM:609622
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Abnormal hair mo... ORPHA:894
Brugada Syndrome 3
J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi... OMIM:611875
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Ventricular tachycardia, Left bundle branch block OMIM:615616
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Variegate Porphyria
Tachycardia OMIM:176200
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Tremor, Hyperglycemia OMIM:619737
Hermansky-Pudlak Syndrome 3
Spontaneous, recurrent epistaxis, Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Hypopigmentation of hair, Hypertrophic cardiomyopathy, Dysphagia, Gener... ORPHA:70472
Carnitine-Acylcarnitine Translocase Deficiency
Neonatal hypoglycemia, Bradycardia, Cardiomyopathy, Cardiac arrest, Premature ventricular contrac... OMIM:212138
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Frequent temper tantrums, Impulsivity, Pulmonic stenosis, Facial telangiectasia, M... OMIM:620141
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Leukonychia, Nail dystrophy, Woolly hair, Fragile nails, Syncope, Ventricular tachycardia, Dilate... OMIM:615821
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, ST segment elevation, Right bundle branch block, Cardiomyopathy, Ventricular fibril... ORPHA:263297
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Tongue thrusting, Hyperactivity, Tremor, Hypopigmentation of the skin, ... ORPHA:98794
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Alopecia ORPHA:1067
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular tach... OMIM:613873
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Tongue thrusting, Hypopigmentation of the skin, Recurrent hand flapping... ORPHA:411511
Coproporphyria, Hereditary
Tachycardia, Hypertension OMIM:121300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Ventricular tachycardia, Dilated cardiomyopathy, Hypoketotic hypoglycemia OMIM:600649
Pheochromocytoma--Islet Cell Tumor Syndrome
Congestive heart failure, Episodic hypertension, Cafe-au-lait spot, Cerebral hemorrhage, Positive... OMIM:171420
Timothy Syndrome
Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Vent... OMIM:601005
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Maturity-onset diabetes of the young, Hyperglycemia OMIM:609812
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hypoglycemic seizures, Red hair, Polyphagia OMIM:609734
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Hypertension, Cerebral ischemi... ORPHA:90065
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Agitation, Hypertension, Hyperconvex nail OMIM:613870
Coronary Arterial Fistula
Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Pulmona... ORPHA:2041
Tetanus
Bradycardia, Hypertension, Tremor, Opisthotonus, Dysphagia, Tachycardia ORPHA:3299
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Abnormal temper tantrums, Hyperactivity, Hypertension, Recurrent hand flapping, Motor stereotypy,... ORPHA:449291
16P12.1P12.3 Triplication Syndrome
Nail-biting, Tachycardia, Hyperactivity, Skin-picking, Thick eyebrow, Attention deficit hyperacti... ORPHA:485405
Mucopolysaccharidosis, Type Iiib
Hyperactivity, Hirsutism, Synophrys, Asymmetric septal hypertrophy, Coarse hair, Aggressive behavior OMIM:252920
Snakebite Envenomation
Hypotension, Neuromuscular dysphagia, Cerebral ischemia, Cardiogenic shock, Epistaxis, Intracrani... ORPHA:449285
Mercury Poisoning
Anorexia, Tremor, Hypertension, Hypotension, Dystonia, Tachycardia ORPHA:330021
Mody
Neonatal hypoglycemia, Hypoinsulinemia, Glycosuria, Hyperglycemia, Transient neonatal diabetes me... ORPHA:552
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Oculocutaneous Albinism Type 1
Iris transillumination defect, Generalized hypopigmentation, Iris hypopigmentation, White eyelash... ORPHA:352731
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Fine hair, Generalized hirsutism, Hypopigmentation of hair ORPHA:2221
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Ventricular bigeminy, Left v... OMIM:620519
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial fibrillation, Paroxysmal atrial tachycardia, Shortened PR interval, Permanent a... OMIM:108950
Cardiomyopathy, Dilated, 1Y
Congestive heart failure, Increased left ventricular end-diastolic volume, Atrial fibrillation, L... OMIM:611878
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Prolonged QT interval, Bradycardia, Atrial fibrillation, Hirsutism, Dysphagia, ... OMIM:613327
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy, Epistaxis, Hematochezia, ... OMIM:203300
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Oral-pharyngeal dysphagia, Prolonged QTc interval, Cardiac arrest, Hypertrophic cardiomyopathy, V... OMIM:616878
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Motor stereotypy, Dysphagia, Pigmentary retinopathy ORPHA:79264
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Congestive heart failure, Maternal diabetes, Abnormality of blood circulati... ORPHA:860
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Nail dystrophy, Woolly hair, Sparse eyelashes, Sparse eyebrow, Ventricu... OMIM:605676
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tachycardia, Tremor OMIM:613239
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, Su... ORPHA:137675
Hydroxykynureninuria
Tachycardia, Hypotension, Motor stereotypy ORPHA:79155
Scorpion Envenomation
Myocarditis, Congestive heart failure, Prominent U wave, Hypertension, Tremor, Premature ventricu... ORPHA:466677
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypoketotic hypoglycemia, Ventricular fibrillation, Atrioventricular block... ORPHA:26793
Hyperthyroidism, Familial Gestational
Tachycardia OMIM:603373
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Tongue thrusting, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, ... ORPHA:98795
Griscelli Syndrome Type 2
Premature graying of hair, Partial albinism, Iris hypopigmentation, Hypopigmentation of hair ORPHA:79477
Atrial Septal Defect, Ostium Secundum Type
Congestive heart failure, Atrial flutter, Abnormal left ventricular function, Increased pulmonary... ORPHA:99103
Carney Complex, Type 1
Congestive heart failure, Multiple lentigines, Red hair, Hirsutism, Profuse pigmented skin lesion... OMIM:160980
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cardiac arrest, Hypotension, Bradycardia ORPHA:70587
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Atrial arrhythmia, Hypertrophic cardiom... OMIM:300257
Acquired Methemoglobinemia
Syncope, Palpitations, Arrhythmia, Tachycardia ORPHA:464453
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Congestive heart failure, Third heart sound, Elevated jugular... ORPHA:1329
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Hypoglycemia OMIM:229700
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Alopecia, Hirsutism, Glyco... ORPHA:2298
Ermine Phenotype
Hypopigmented skin patches, Irregular hyperpigmentation, Hypopigmentation of hair, Iris hypopigme... ORPHA:999
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:3440
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Palpitations OMIM:188580
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Albinism, Frecklin... ORPHA:79431
Congenital Fibrinogen Deficiency
Tachycardia, Abnormality of the subungual region, Opisthotonus, Internal hemorrhage ORPHA:335
Serotonin Syndrome
Agitation, Hypertension, Tremor, Hypotension, Restlessness, Tachycardia ORPHA:43116
High Altitude Pulmonary Edema
Anorexia, Tachycardia ORPHA:330012
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia OMIM:221400
Hereditary Coproporphyria
Extension of hair growth on temples to lateral eyebrow, Facial hirsutism, Tachycardia ORPHA:79273
Carnitine-Acylcarnitine Translocase Deficiency
Fasting hypoglycemia, Hypoketotic hypoglycemia, Cardiomyopathy, Hypotension, Arrhythmia, Ventricu... ORPHA:159
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Tropical Endomyocardial Fibrosis
P pulmonale, Abnormal ST segment, Prolonged QRS complex, Pulmonary venous hypertension, Elevated ... ORPHA:75565
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:605373
Fructose-1,6-Bisphosphatase Deficiency
Tachycardia, Neonatal hypoglycemia, Hypoglycemia, Fasting hypoglycemia ORPHA:348
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:98793
Abdominal Obesity-Metabolic Syndrome 3
Hypertension, Hyperglycemia, Type II diabetes mellitus, Myocardial infarction OMIM:615812
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177904
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Tachycardia, Dysphagia, Hypertrophic cardiomyopathy ORPHA:368
Legius Syndrome
Inguinal freckling, Hyperactivity, Multiple cafe-au-lait spots, Pulmonic stenosis, Paroxysmal atr... ORPHA:137605
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Obsessive-compulsive trait, Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation ... ORPHA:177901
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmented skin patches, Hypopigmentation of hair, Hyperpigmentation of the skin, Multiple caf... ORPHA:3214
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Congestive heart failure ORPHA:90037
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Reduced left ventricular ejection fraction, Capillary leak, Hypotension, Arrhythmia,... ORPHA:542323
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iri... ORPHA:98754
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Cafe-au-lait spot, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:618541
Muenke Syndrome
Hypopigmented skin patches, Hypermelanotic macule, Hypopigmentation of hair ORPHA:53271
Cocaine Intoxication
Ischemic stroke, Agitation, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Tre... ORPHA:90068
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Reduced left ventricular ejection fraction, Pulmonary arterial hyperten... OMIM:613426
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Ski... ORPHA:398079
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Hypopigmentation of hair, Hypopigmentation of the skin, Compulsive beha... ORPHA:398069
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Ventricular tachycardia, Paroxysmal atrial tachycardia OMIM:613205
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Dystonia, Tachycardia, Dilated cardiomyopathy, Aggressive behavior OMIM:618321
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Spontaneous, recurrent epistaxis, Tremor, Hypopigment... OMIM:214500
Congenitally Corrected Transposition Of The Great Arteries
Bradycardia, Pulmonic stenosis, Arrhythmia, Heart murmur, Mobitz I atrioventricular block, Aortic... ORPHA:216694
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Hypotension OMIM:145600
Pheochromocytoma
Congestive heart failure, Episodic hypertension, Cafe-au-lait spot, Cerebral hemorrhage, Positive... OMIM:171300
Hermansky-Pudlak Syndrome
Anorexia, Gastrointestinal hemorrhage, Hypopigmentation of hair, Hypopigmentation of the skin, Ca... ORPHA:79430
Congenital Disorder Of Glycosylation, Type It
Hypoglycemia, Pulmonary arterial hypertension, Tachycardia, Aborted sudden cardiac death, Dilated... OMIM:614921
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Pheochromocytoma/Paraganglioma Syndrome 1
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:168000
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia, D... OMIM:300952
Porphyria Variegata
Hyperpigmentation of the skin, Hypertension, Hypopigmentation of the skin, Tachycardia, Hypertric... ORPHA:79473
Hyperthyroidism, Nonautoimmune
Hyperactivity, Tachycardia OMIM:609152
Hoyeraal-Hreidarsson Syndrome
Premature graying of hair, Nail dystrophy, Sparse scalp hair, Generalized hyperpigmentation, Gene... ORPHA:3322
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Heterochromia iridis, White forelock, Whit... OMIM:613266
Tularemia
Tachycardia ORPHA:3392
Neuroleptic Malignant Syndrome
Agitation, Oculogyric crisis, Bradycardia, Hypertension, Tremor, Hypertensive crisis, Hypotension... ORPHA:94093
Hypohidrotic Ectodermal Dysplasia
Irregular hyperpigmentation, Trichorrhexis nodosa, Breast aplasia, Abnormality of the nail, Abnor... ORPHA:238468
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia ORPHA:264675
Prader-Willi Syndrome
Hypopigmentation of hair, Hypertension, Hypopigmentation of the skin, Polyphagia, Attention defic... ORPHA:739
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia OMIM:601887
Prader-Willi Syndrome Due To Translocation
Abnormal temper tantrums, Hypopigmentation of hair, Hyperpigmentation of the skin, Head-banging, ... ORPHA:177907
Cholera
Tachycardia, Hypovolemic shock, Hypoglycemia, Hypotension ORPHA:173
Koolen-De Vries Syndrome
Abnormality of hair texture, Hypopigmentation of hair, Overfriendliness ORPHA:96169
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia ORPHA:90036
Ethylene Glycol Poisoning
Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ... ORPHA:31826
Relapsing Fever
Tachycardia, Epistaxis, Hypotension ORPHA:91547
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation, Hand tremor ORPHA:99819
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Hypopigmentation of hair, Heterochromia ir... ORPHA:163746
Carney Triad
Anorexia, Gastrointestinal hemorrhage, Hypertension, Arrhythmia, Tachycardia ORPHA:139411
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Congestive heart failure ORPHA:90033
Acute Intermittent Porphyria
Hypertension, Tremor, Restlessness, Tachycardia, Pseudobulbar paralysis ORPHA:79276
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Bradycardia, Tremor, Cardiac arrest, Hypotension, Pulmonary arterial hypertension, Tachycardia, P... OMIM:277400
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bradycardia, Hypertension, Retinal hemorrhage, Tachycardia, Blotching pigmentation of the skin OMIM:614653
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Hyperactivity, Tremor, Dystonia, Choreoathetosis, Aggressive behavior OMIM:612716
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Thick hair, Pulmonary arterial hypertension, Long eyelashes, Tricuspid ... ORPHA:505248
Gitelman Syndrome
Polydipsia, Prolonged QT interval, Hypotension, Ventricular tachycardia, Palpitations, Salt craving OMIM:263800
Syndromic Diarrhea
Trichorrhexis nodosa, Aortic regurgitation, Hypopigmentation of hair, Brittle hair, Generalized h... ORPHA:84064
Brittle Cornea Syndrome
Pulmonic stenosis, Abnormality of hair pigmentation ORPHA:90354
Vici Syndrome
Congestive heart failure, Hypopigmentation of hair, Hypopigmentation of the skin, Cardiomyopathy,... OMIM:242840
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Woolly hair, Sparse hair, Intracranial hem... ORPHA:565
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Athetosis, Hypopigmentation of hair, Ocular albinism ORPHA:2719
Double Outlet Right Ventricle
Pulmonic stenosis, Tachycardia, Heart murmur ORPHA:3426
Chédiak-Higashi Syndrome
Hypopigmentation of hair, Tremor, Hypopigmentation of the skin, Large clumps of pigment irregular... ORPHA:167
Crimean-Congo Hemorrhagic Fever
Hematemesis, Bradycardia, Hypertension, Epistaxis, Diffuse alveolar hemorrhage, Anorexia, Myocard... ORPHA:99827
Hemorrhagic Fever-Renal Syndrome
Hematemesis, Agitation, Melena, Capillary leak, Hypertension, Hypotension, Internal hemorrhage, E... ORPHA:340
Malignant Hyperthermia Of Anesthesia
Ventricular tachycardia, Supraventricular tachycardia, Premature ventricular contraction, High-ou... ORPHA:423
Ogden Syndrome
Maternal diabetes, Torticollis, Supraventricular tachycardia, Pulmonary arterial hypertension, Lo... OMIM:300855
Marburg Hemorrhagic Fever
Anorexia, Shock, Bradycardia, Capillary leak, Hypotension, Hypovolemia, Internal hemorrhage, Peri... ORPHA:99826
Cardiac Diverticulum
Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,... ORPHA:1686
Degcags Syndrome
Premature graying of hair, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Abnormal eyelash ... OMIM:619488
Porphyria, Acute Intermittent
Tachycardia, Hypertension OMIM:176000
Familial Dysautonomia
Tachycardia, Orthostatic hypotension, Hypertension, Heterochromia iridis ORPHA:1764
Pheochromocytoma/Paraganglioma Syndrome 4
Tachycardia, Palpitations, Hypertension associated with pheochromocytoma OMIM:115310
Bacterial Toxic-Shock Syndrome
Myocarditis, Capillary leak, Hypotension, Tachycardia, Shock ORPHA:36234
Sepsis In Premature Infants
Tachycardia, Hypotension, Bradycardia ORPHA:90051
Eisenmenger Syndrome
Right-to-left shunt, Atrial fibrillation, Elevated jugular venous pressure, Supraventricular arrh... ORPHA:97214
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Tachycardia, Hypertension, Orthostatic hypotension OMIM:223900
Absence Of The Pulmonary Artery
Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Atrial fibr... ORPHA:980
Cystinosis, Nephropathic
Polydipsia, Hypopigmentation of hair, Hypopigmentation of the skin, Glycosuria, Dysphagia, Diabet... OMIM:219800
Mirizzi Syndrome
Anorexia, Tachycardia ORPHA:521219
Autosomal Recessive Faciodigitogenital Syndrome
Coarse hair, Hypopigmentation of hair, Dry hair, Widow's peak ORPHA:1974
Graft Versus Host Disease
Tachycardia ORPHA:39812
Systemic Mastocytosis With Associated Hematologic Neoplasm
Syncope, Hypotension, Tachycardia ORPHA:98849
Imerslund-Gräsbeck Syndrome
Tachycardia ORPHA:35858
Renal Nutcracker Syndrome
Syncope, Orthostatic hypotension, Tachycardia ORPHA:71273
Histidinemia
Hyperactivity ORPHA:2157
Smith-Lemli-Opitz Syndrome
Attention deficit hyperactivity disorder, Self-injurious behavior, Abnormal eyelash morphology, H... ORPHA:818
Rh Deficiency Syndrome
Tachycardia ORPHA:71275
45,X/46,Xy Mixed Gonadal Dysgenesis
Nail dysplasia, Prolonged QT interval, Low posterior hairline, Tachycardia ORPHA:1772
Plague
Anorexia, Hematemesis, Hypotension, Arrhythmia, Tachycardia ORPHA:707
Truncus Arteriosus
Pulmonic stenosis, Abnormal heart valve physiology, Aortic regurgitation, Tachycardia ORPHA:3384
Cardiac-Urogenital Syndrome
Tachycardia OMIM:618280
Congenital Total Pulmonary Venous Return Anomaly
Low-output congestive heart failure, Pulmonary arterial hypertension, Tricuspid regurgitation, Ri... ORPHA:99125

Histopathology

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

There is no histopathology data for Wdr6

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 Wdr6.

There are 1 publication which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
WDR62 is required for centriole duplication in spermatogenesis and manchette removal in spermiogenesis. Communications biology (May 2021) Wdr62tm3a(EUCOMM)Hmgu PMC8167107

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MGI Allele Allele Type Produced
Wdr6em1(IMPC)J Intra-exon deletion Mice
Wdr6tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Wdr6tm462704(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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