Gene Summary

Name:
gap junction protein, gamma 1
Synonyms:
connexin 45,  Cx45,  Gja-7,  C130009G16Rik,  Gja7

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal pericardium morphology Gjc1tm1.1(KOMP)Vlcg HOM E9.5 0.00
abnormal embryo size Gjc1tm1.1(KOMP)Vlcg HOM E9.5 0.00
embryonic lethality prior to tooth bud stage Gjc1tm1.1(KOMP)Vlcg HOM   E12.5 0.00
preweaning lethality, complete penetrance Gjc1tm1.1(KOMP)Vlcg HOM   Early adult 0.00
edema Gjc1tm1.1(KOMP)Vlcg HOM E9.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

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

Anatomy Images Zygosity Mutant Expr
Adrenal gland  Section images heterozygote 50% (2 of 4)
Aorta  Section images heterozygote 75% (3 of 4)
Bone marrow  Section images heterozygote 50% (1 of 2)
Bone  Section images heterozygote 100% (2 of 2)
Brain  Section images heterozygote 50% (2 of 4)
Brown adipose tissue  Section images heterozygote 100% (4 of 4)
Cecum  Section images heterozygote 50% (1 of 2)
Cerebellum  Section images heterozygote 50% (2 of 4)
Colon  Section images heterozygote 100% (2 of 2)
Diaphragm  Section images heterozygote 100% (2 of 2)
Epididymis  Section images heterozygote 50% (1 of 2)
Esophagus  Section images heterozygote 25% (1 of 4)
Eye  Section images heterozygote 50% (2 of 4)
Gonadal fat pad  Section images heterozygote 50% (1 of 2)
Harderian gland  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 50% (2 of 4)
Kidney  Section images heterozygote 100% (4 of 4)
Liver  Section images heterozygote 25% (1 of 4)
Lung  Section images heterozygote 100% (4 of 4)
Mammary gland  Section images heterozygote 25% (1 of 4)
Mesenteric adipose tissue  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 25% (1 of 4)
Ovary  Section images heterozygote 50% (2 of 4)
Oviduct  Section images heterozygote 50% (2 of 4)
Pancreas  Section images heterozygote 50% (2 of 4)
Parotid gland  Section images heterozygote 100% (2 of 2)
Penis  Section images heterozygote 50% (1 of 2)
Prostate gland  Section images heterozygote 50% (2 of 4)
Quadriceps  Section images heterozygote 100% (2 of 2)
Sciatic nerve  Section images heterozygote 50% (1 of 2)
Skin  Section images heterozygote 100% (4 of 4)
Spinal cord  Section images heterozygote 50% (2 of 4)
Spleen  Section images heterozygote 50% (2 of 4)
Stomach  Section images heterozygote 100% (4 of 4)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (2 of 4)
Tongue  Section images heterozygote 100% (3 of 3)
Trachea  Section images heterozygote 75% (3 of 4)
Trigeminal V nerve  Section images heterozygote 100% (2 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Uterus  Section images heterozygote 50% (2 of 4)
Vagina  Section images heterozygote 50% (1 of 2)
Vas deferens  Section images heterozygote 50% (1 of 2)
Vesicular gland  Section images heterozygote 50% (1 of 2)
Blood N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 4)
Cartilage tissue N/A heterozygote 0.0% (0 of 4)
Cerebral cortex N/A heterozygote 0.0% (0 of 4)
Chest bone N/A heterozygote Not available
Duodenum N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote Not available
Hindlimb N/A heterozygote Not available
Hippocampus N/A heterozygote 0.0% (0 of 4)
Hypothalamus N/A heterozygote 0.0% (0 of 4)
Ileum N/A heterozygote 0.0% (0 of 2)
Jejunum N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 50% (2 of 4)
Lower urinary tract N/A heterozygote 50% (2 of 4)
Lymph node N/A heterozygote 0.0% (0 of 4)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 0.0% (0 of 4)
Peyer's patch N/A heterozygote 0.0% (0 of 4)
Pituitary gland N/A heterozygote 0.0% (0 of 4)
Skeletal muscle N/A heterozygote 25% (1 of 4)
Small intestine N/A heterozygote 50% (2 of 4)
Stomach pyloric region N/A heterozygote Not available
Striatum N/A heterozygote 0.0% (0 of 4)
Sublingual gland N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 4)
Thyroid gland N/A heterozygote 50% (2 of 4)
Vascular system N/A heterozygote 50% (2 of 4)
White adipose tissue N/A heterozygote 0.0% (0 of 4)

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

Anatomy Images Zygosity Mutant Expr
Axial skeleton N/A heterozygote 100% (2 of 2)
Brain N/A heterozygote 33.33% (2 of 6)
Central nervous system ganglion N/A heterozygote 100% (2 of 2)
Ear N/A heterozygote 33.33% (2 of 6)
Embryo N/A heterozygote 33.33% (2 of 6)
Eye N/A heterozygote 33.33% (2 of 6)
Footplate N/A heterozygote 33.33% (2 of 6)
Forebrain N/A heterozygote 33.33% (2 of 6)
Forelimb N/A heterozygote 33.33% (2 of 6)
Gut N/A heterozygote 100% (2 of 2)
Handplate N/A heterozygote 33.33% (2 of 6)
Head N/A heterozygote 33.33% (2 of 6)
Heart N/A heterozygote 33.33% (2 of 6)
Hindbrain N/A heterozygote 33.33% (2 of 6)
Hindlimb N/A heterozygote 33.33% (2 of 6)
Liver N/A heterozygote 33.33% (2 of 6)
Lung N/A heterozygote 33.33% (2 of 6)
Mandibular process N/A heterozygote 33.33% (2 of 6)
Maxillary process N/A heterozygote 33.33% (2 of 6)
Midbrain N/A heterozygote 33.33% (2 of 6)
Nose N/A heterozygote 100% (2 of 2)
Oral cavity N/A heterozygote 33.33% (2 of 6)
Chorioallantoic placenta N/A heterozygote 100% (6 of 6)
Skeleton N/A heterozygote 100% (2 of 2)
Skin N/A heterozygote 33.33% (2 of 6)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 33.33% (2 of 6)
Tail N/A heterozygote 33.33% (2 of 6)
Trachea N/A heterozygote 100% (2 of 2)
Urinary system N/A heterozygote 100% (2 of 2)

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

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
blood 0.0%
bone 0.0%
bone marrow 0.0%
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cecum 2.97% (11 of 370)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
chest bone Unavailable
colon 8.73% (11 of 126)
diaphragm 0.0%
duodenum 0.79% (1 of 126)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
gall bladder 0.0%
gonadal fat pad 0.0%
harderian gland 0.0%
heart 0.34% (2 of 584)
hindlimb 0.0%
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
ileum 10.32% (13 of 126)
jejunum 3.97% (5 of 126)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
mesenteric adipose tissue 0.0%
mesenteric lymph node 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
parathyroid gland 0.18% (1 of 562)
parotid gland 0.0%
penis 0.0%
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
quadriceps 0.0%
sciatic nerve 0.0%
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
stomach pyloric region 0.0%
striatum 0.51% (3 of 584)
sublingual gland 0.0%
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
tongue 3.97% (5 of 126)
trachea 0.51% (3 of 584)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vagina 0.0%
vas deferens 3.67% (14 of 381)
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

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

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

Anatomy Background staining in controls(WT)
axial skeleton 1.59% (1 of 63)
brain 1.18% (6 of 507)
central nervous system ganglion 1.39% (1 of 72)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
gut 1.72% (1 of 58)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
placenta 16.67% (7 of 42)
skeleton 1.3% (1 of 77)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)
trachea 1.72% (1 of 58)
urinary system 1.72% (1 of 58)

Associated Images

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

Adult LacZ

LacZ Images Section

126 Images

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

Embryo LacZ

LacZ images wholemount

24 Images

Gross Morphology Embryo E9.5

Images

4 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Human diseases caused by Gjc1 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 Gjc1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Wrist drop, Intrinsic hand muscle atrophy, Leg muscle stiffness, Abnormal left ventricular functi... ORPHA:98912
Corneal Dystrophy, Fuchs Endothelial, 3
Edema OMIM:613267
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc... OMIM:612158
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ... ORPHA:45453
Lipedema
Edema OMIM:614103
Placental Insufficiency
Maternal hypertension, Abnormal heart morphology, Preeclampsia, Eclampsia, Intrauterine growth re... ORPHA:439167
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef... OMIM:601493
Ethanolaminosis
Cardiomegaly OMIM:227150
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn... ORPHA:300751
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block ORPHA:1479
Atrial Standstill 1
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... OMIM:108770
Left Ventricular Noncompaction 1
Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Patent ductus arteriosus,... OMIM:604169
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac... OMIM:614954
Heart-Hand Syndrome, Slovenian Type
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... ORPHA:168796
Left Ventricular Noncompaction 8
Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle... OMIM:615373
Cardiomyopathy, Dilated, 1R
Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy... OMIM:613424
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1E
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... OMIM:601154
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Right bundle branch block, Pericardial effusion, Left bundle branch bloc... OMIM:115197
Cardiomyopathy, Familial Hypertrophic, 13
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Biventricular hypertroph... OMIM:613243
Familial Progressive Cardiac Conduction Defect
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope ORPHA:871
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle... ORPHA:263297
Congenitally Corrected Transposition Of The Great Arteries
Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular... ORPHA:216694
Lymphatic Malformation 8
Polyhydramnios, Stillbirth, Pleural effusion, Pericardial effusion, Nonimmune hydrops fetalis, Ge... OMIM:618773
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Perimembranous ventricular septal... OMIM:618782
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... OMIM:113900
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 6
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... OMIM:600858
Cardiomyopathy, Dilated, 1D
Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat... OMIM:601494
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... OMIM:604145
Atrial Septal Defect, Sinus Venosus Type
Premature atrial contractions, Palpitations, Anomalous pulmonary venous return, Cardiac conductio... ORPHA:99105
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... OMIM:616117
Familial Dilated Cardiomyopathy
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... ORPHA:217607
Cardiomyopathy, Familial Hypertrophic, 16
Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b... OMIM:613838
Cardiomyopathy, Familial Hypertrophic 27
Hydrops fetalis, Tricuspid regurgitation, Prolonged QT interval, Cardiomegaly, Mitral regurgitation OMIM:618052
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Proximal amyotrophy, Left ventricular systolic dysfunction, Limb-girdle muscula... ORPHA:206559
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Internally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Abnormal Z disc mo... OMIM:618654
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Restrictive cardiomyopathy, Facial palsy, Third degree atrioventric... OMIM:601419
Brugada Syndrome
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... ORPHA:130
Muscular Dystrophy, Becker Type
Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Abnormal EKG OMIM:300376
Ebstein Malformation Of The Tricuspid Valve
Arrhythmia, Atrial septal defect, Abnormal endocardium morphology, Imperforate tricuspid valve, A... ORPHA:1880
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomegaly, Cardiomyopathy ORPHA:85447
Neonatal Lupus Erythematosus
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Abnormal heart morphology, Hepa... ORPHA:398124
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... OMIM:618920
Danon Disease
EMG: myopathic abnormalities, Arrhythmia, Myocardial fibrosis, Myocardial necrosis, Wolff-Parkins... OMIM:300257
Idiopathic Neonatal Atrial Flutter
Reduced ejection fraction, Arrhythmia, Hydrops fetalis, Maternal diabetes, Paroxysmal supraventri... ORPHA:45452
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Ventricular extrasystoles, Bacterial endocarditis, Heart block ORPHA:1964
Naxos Disease
Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras... OMIM:601214
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Polyhydramnios, Diastasis recti, Ventricular septal defect, Abnormal heart morphology, Large plac... ORPHA:254534
Sick Sinus Syndrome 2
Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b... OMIM:163800
Peripartum Cardiomyopathy
Toxemia of pregnancy, Abnormal T-wave, Myocarditis, Pulmonary arterial hypertension, Abnormal car... ORPHA:563
Long Qt Syndrome 13
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... OMIM:613485
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Sudden cardiac death, Atriov... ORPHA:98909
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv... OMIM:616201
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly OMIM:300886
Cardiomyopathy, Familial Hypertrophic, 8
Palpitations, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac death, Ventricular fib... OMIM:608751
Lymphatic Malformation 11
Lymphedema, Pedal edema OMIM:619401
Combined Oxidative Phosphorylation Deficiency 33
Oligohydramnios, Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Myopathy, Cardiomyopathy OMIM:617713
Rigid Spine Syndrome
Hamstring contractures, Cardiac conduction abnormality, Skeletal muscle atrophy, Hip contracture,... ORPHA:97244
Complete Atrioventricular Septal Defect
Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly, Abnormal... ORPHA:1329
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Hypertrophic cardiomyopathy OMIM:617228
Lymphatic Malformation 7
Atrial septal defect, Lymphedema, Pericardial effusion, Facial edema, Edema, Nonimmune hydrops fe... OMIM:617300
Long Qt Syndrome 10
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... OMIM:611819
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Muscular dystrophy, Cardiomyopathy OMIM:309930
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Type 1 muscle fiber atrophy, Achilles tendon contracture, Sudden cardiac death, Atrial arrhythmia... OMIM:310300
Timothy Syndrome
Ventricular septal defect, Patent ductus arteriosus, Cardiomegaly, Prolonged QT interval, Patent ... OMIM:601005
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Tropical Endomyocardial Fibrosis
Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Cardiomegaly, Cardiogenic ... ORPHA:75565
Atrial Septal Defect, Ostium Secundum Type
Atrial flutter, Abnormal left ventricular function, Tricuspid regurgitation, Right atrial enlarge... ORPHA:99103
Choanal Atresia And Lymphedema
Lymphedema, Pericardial effusion OMIM:613611
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor... ORPHA:437572
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Intrauterine growth retardation, Small placenta, Severe intrauterine growth retardation ORPHA:73272
Atrial Septal Defect, Ostium Primum Type
Atrial flutter, Tricuspid regurgitation, Right atrial enlargement, Pulmonary arterial hypertensio... ORPHA:99106
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98855
Refsum Disease
Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy, Heart block ORPHA:773
Progressive Familial Heart Block, Type Ib
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... OMIM:604559
Silver-Russell Syndrome Due To A Point Mutation
Intrauterine growth retardation, Small placenta, Oligohydramnios ORPHA:397590
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98853
Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:261
Familial Atrial Myxoma
Cardiac myxoma, Tricuspid regurgitation, Heart murmur, Congestive heart failure, Pulmonic valve m... ORPHA:615
Ebstein Anomaly
Atrial septal defect, Atrial standstill, Ventricular preexcitation, Atrial fibrillation, Sudden c... OMIM:224700
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Reduced ejection fraction, Aortic regurgitation, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:616501
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous pulmonary venous return, Tricuspid atresia, Truncus ... ORPHA:185
Infantile Sialic Acid Storage Disease
Hydrops fetalis, Hepatomegaly, Congestive heart failure, Premature birth, Cardiomegaly, Splenomegaly OMIM:269920
Brugada Syndrome 2
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... OMIM:611777
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617182
Carnitine Deficiency, Systemic Primary
Reduced muscle carnitine level, Endocardial fibroelastosis, Hepatomegaly, Congestive heart failur... OMIM:212140
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte... OMIM:261740
X-Linked Emery-Dreifuss Muscular Dystrophy
EMG: myopathic abnormalities, Type 1 muscle fiber atrophy, Scapular winging, Supraventricular arr... ORPHA:98863
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Patent foramen ov... ORPHA:555874
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Increased intramyocellular lipid droplets, Flexion contracture, Abnormal mitochondria in muscle t... OMIM:252011
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Ventricular extrasystoles, Rhabdomyolysis, Ventricular tach... OMIM:212138
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly, Ventricular tachycardia OMIM:600649
Mulibrey Nanism
Myocardial fibrosis, Hydrops fetalis, Hepatomegaly, Congestive heart failure, Cardiomegaly, Intra... OMIM:253250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Right bundle branch block OMIM:613158
Long Qt Syndrome 14
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... OMIM:616247
Ventricular Tachycardia, Familial
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia OMIM:192605
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... OMIM:140400
Atrial Septal Defect, Coronary Sinus Type
Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul... ORPHA:99104
Cardiomyopathy, Dilated, 1S
Ventricular arrhythmia, Tricuspid regurgitation, Congestive heart failure, Bicuspid aortic valve,... OMIM:613426
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Arrhythmia, Renal tubular epithelial necrosis, Hepatomegaly, Cardiomegaly, Heart block, Abnormal ... ORPHA:228308
Holt-Oram Syndrome
Anomalous pulmonary venous return, Atrial septal defect, Ventricular septal defect, Paroxysmal at... ORPHA:392
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Reduced ejection fraction, Scapular winging, Muscular edema, Lower limb muscle weakness, Proximal... ORPHA:268
Aapoaiv Amyloidosis
Cardiac amyloidosis, Cardiac conduction abnormality, Abnormal cardiac ventricular function, Atria... ORPHA:439232
Refsum Disease, Classic
Arrhythmia, Congestive heart failure, Cardiomegaly, Limb muscle weakness, Cardiomyopathy OMIM:266500
Familial Short Qt Syndrome
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... ORPHA:51083
Congenital Toxoplasmosis
Intrauterine growth retardation, Premature birth, Cardiomegaly, Hepatomegaly ORPHA:858
Plectin-Related Limb-Girdle Muscular Dystrophy R17
EMG: myopathic abnormalities, Pelvic girdle muscle weakness, Achilles tendon contracture, Distal ... ORPHA:254361
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Skeletal muscle atrophy, Limb muscle weakness, Weakness of ... ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Pulmonary arterial hypertension, Tricuspid regurgitation, Cardiomegaly, ... OMIM:619051
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:618652
Sick Sinus Syndrome 1
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... OMIM:608567
Neu-Laxova Syndrome 1
Polyhydramnios, Spina bifida, Short umbilical cord, Patent foramen ovale, Stillbirth, Ventricular... OMIM:256520
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Prenatal maternal abnormality, Arrhythmia, Cardiomegaly OMIM:255120
Combined Oxidative Phosphorylation Deficiency 41
Intrauterine growth retardation, Nonimmune hydrops fetalis, Premature birth, Cardiomegaly OMIM:618838
Restrictive Dermopathy
Polyhydramnios, Camptodactyly of finger, Atrial septal defect, Short umbilical cord, Arthrogrypos... ORPHA:1662
Hemochromatosis, Type 1
Arrhythmia, Hepatomegaly, Congestive heart failure, Cardiomegaly, Splenomegaly, Telangiectasia, C... OMIM:235200
Wolff-Parkinson-White Syndrome
Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi... OMIM:194200
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Patent ductus arteriosu... ORPHA:1457
Pulmonary Edema Of Mountaineers, Susceptibility To
Edema, Pulmonary edema OMIM:178400
Noonan Syndrome With Multiple Lentigines
Arrhythmia, Bundle branch block, Scapular winging, Abnormal mitral valve morphology, Abnormal end... ORPHA:500
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal... ORPHA:3208
Neuraminidase Deficiency
Hydrops fetalis, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Splenomegaly, Cardiomyopathy OMIM:256550
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri... ORPHA:324410
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Reduced ejection fraction, Hepatocellular necrosis, Exercise-induced rhabdomyolysis, Sudden cardi... OMIM:201475
Congenital Left Ventricular Aneurysm
Arrhythmia, Abnormal T-wave, Congestive heart failure, Abnormal ST segment, Abnormal left ventric... ORPHA:1055
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Palpitations, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Atrioventricular bl... OMIM:616812
Mosaic Trisomy 16
Atrial septal defect, Maternal diabetes, Ventricular septal defect, Abnormal heart morphology, Pr... ORPHA:1708
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Cardiomegaly, Hepatomegaly OMIM:619064
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Arrhythmia, Sick sinus syndrome, Ventricular escape rhythm, Prolonged PR interval, Patent foramen... ORPHA:542306
Cantu Syndrome
Pericardial effusion, Patent ductus arteriosus, Umbilical hernia, Congenital hypertrophy of left ... OMIM:239850
Heart Block, Congenital
Myocardial fibrosis, Absent atrioventricular node, Myocardial calcification, Atrial arrhythmia, A... OMIM:234700
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Patent foramen ovale, Left ventricular systolic dysfunction, Tricuspid regurgitation, Hepatomegal... OMIM:619167
Polymyositis
Abnormal muscle fiber morphology, Arrhythmia, Pericarditis, Gastrointestinal hemorrhage, Abnormal... ORPHA:732
Car T Cell Therapy-Associated Cytokine Release Syndrome
Reduced ejection fraction, Arrhythmia, Hypotension, Tachycardia, Heart block, Capillary leak ORPHA:542323
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Bundle branch block, Ventricular tachycardia OMIM:615616
Heart-Hand Syndrome, Spanish Type
Sick sinus syndrome OMIM:140450
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,... OMIM:600309
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Limb hypertonia, Cardiomegaly OMIM:619170
Brugada Syndrome 5
Ventricular fibrillation, Bundle branch block, ST segment elevation OMIM:612838
Fetal Akinesia Deformation Sequence 1
Polyhydramnios, Camptodactyly of finger, Arthrogryposis multiplex congenita, Short umbilical cord... OMIM:208150
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Pericardial ef... ORPHA:26793
Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type
Peroneal muscle atrophy, Congenital foot contraction deformities, Flexion contracture, Peroneal m... OMIM:118230
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter... OMIM:108900
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Arrhythmia, Hepatomegaly, Distal arthrogryposis, Cardiomegaly, Skeletal muscle atrophy, Myopathy ORPHA:42
Lethal Acantholytic Erosive Disorder
Oligohydramnios, Camptodactyly of toe, Impaired myocardial contractility, Cardiomegaly, Hypovolem... ORPHA:158687
Familial Aortic Dissection
Cardiomegaly, Abnormal left ventricular function, Patent ductus arteriosus, Aortic regurgitation ORPHA:229
Congenital Aortic Valve Stenosis
Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Angina pe... ORPHA:3093
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Third degree atrioventricular block, Skeletal muscle atrophy ORPHA:480
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Polyhydramnios, Hydrops fetalis, Ventricular septal defect, Flexion contracture, Single umbilical... OMIM:616897
Lethal Congenital Contracture Syndrome 10
Hydrops fetalis, Oligohydramnios, Ventricular septal defect, Fetal akinesia sequence, Torticollis... OMIM:617022
Acitretin/Etretinate Embryopathy
Maternal teratogenic exposure, Third degree atrioventricular block, Premature birth, Atrioventric... ORPHA:40366
Atrial Septal Defect 1
Atrial septal defect, Atrial septal dilatation, Ventricular septal defect, Secundum atrial septal... OMIM:108800
Trichohepatoenteric Syndrome 1
Polyhydramnios, Aortic regurgitation, Ventricular septal defect, Large placenta, Abnormalities of... OMIM:222470
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Premature birth, Cardiomegaly, Hypertension OMIM:618886
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Caesarian section, E... ORPHA:369929
Glycogen Storage Disease Ii
Macroglossia, Wolff-Parkinson-White syndrome, Firm muscles, Hepatomegaly, Shortened PR interval, ... OMIM:232300
Histiocytoid Cardiomyopathy
Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Atrial fibrillation, V... ORPHA:137675
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Facial hypotonia, Left ventricular outflow tract obstruction, Hepatomegaly, Heart m... ORPHA:308552
X-Linked Centronuclear Myopathy
Atrioventricular block, Skeletal muscle atrophy ORPHA:596
Cartilage-Hair Hypoplasia
Spinal dysraphism, Hepatomegaly, Heart block, Aplasia/Hypoplasia of the abdominal wall musculatur... ORPHA:175
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Polyhydramnios, Macroglossia, Diastasis recti, Flexion contracture of finger, Camptodactyly, Larg... ORPHA:254528
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Cardiomyopathy OMIM:105210
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Right bundle branch block, Skeletal muscle atrophy OMIM:616479
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities
Pulmonic stenosis, Secundum atrial septal defect, Abnormal EKG OMIM:178650
Primary Hyperoxaluria
Intermittent claudication, Cardiomyopathy, Arterial occlusion, Heart block, Raynaud phenomenon ORPHA:416
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Polyhydramnios, Lymphedema, Edema, Facial edema OMIM:618154
Juvenile Dermatomyositis
Arrhythmia, Bundle branch block, Pericarditis, Gastrointestinal hemorrhage, Angina pectoris, Tela... ORPHA:93672
Hypertrichotic Osteochondrodysplasia, Cantu Type
Abnormal heart valve morphology, Patent ductus arteriosus, Umbilical hernia, Cardiomegaly, Hypert... ORPHA:1517
Fabry Disease
Conjunctival telangiectasia, Arrhythmia, Bundle branch block, Abnormal myocardium morphology, Ang... ORPHA:324
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Symptomatic Form Of Hemochromatosis Type 1
Arrhythmia, Decreased muscle mass, Elevated jugular venous pressure, Hepatomegaly, Congestive hea... ORPHA:465508
Myotonic Dystrophy 1
Polyhydramnios, Atrial flutter, Atrial fibrillation, Decreased fetal movement, First degree atrio... OMIM:160900
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Peroneal muscle atrophy, Orthostatic hypotension, Peroneal muscle weakness, Atrioventricular bloc... OMIM:118301
Marbach-Rustad Progeroid Syndrome
Premature rupture of membranes, Pulmonary insufficiency, Ventricular septal hypertrophy, Intraute... OMIM:619322
Lymphangiectasia, Pulmonary, Congenital
Polyhydramnios, Palpebral edema, Pleural effusion, Pedal edema, Facial edema, Edema, Ascites, Non... OMIM:265300
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Pulmonary arterial hypertension, Cardiomegaly, Hypertension OMIM:613320
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Antenatal intracerebral hemorrhage, Arrhythmia, Oligohydramnios, Increased muscle lipid content, ... OMIM:608836
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Flexion contracture, Hypertension, Pulmonary arterial hypertension, Right bund... OMIM:614008
Eisenmenger Syndrome
Ventricular arrhythmia, Patent ductus arteriosus, Tricuspid regurgitation, Pulmonary arterial hyp... ORPHA:97214
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Arrhythmia, Third degree atrioventricular block, Cardiomyopathy OMIM:530000
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Sinus Node Disease And Myopia
Abnormal electrophysiology of sinoatrial node origin, Sick sinus syndrome OMIM:182190
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Congestive heart failure, Limb muscle weakness, Cardiomegaly, Cardiomyopathy OMIM:619259
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Cardiac Valvular Defect, Developmental
Tricuspid atresia, Hydrops fetalis, Edema, Mitral stenosis, Tricuspid valve prolapse, Patent fora... OMIM:212093
Beckwith-Wiedemann Syndrome
Polyhydramnios, Macroglossia, Diastasis recti, Enlarged kidney, Large placenta, Visceromegaly, Um... ORPHA:116
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Ventricular septal defect, Hypertension, Atrioventricular block, Double out... ORPHA:371428
Scorpion Envenomation
Cardiogenic shock, Arrhythmia, Bundle branch block, Cardiac conduction abnormality, T-wave invers... ORPHA:466677
Paternal Uniparental Disomy Of Chromosome 6
Macroglossia, Oligohydramnios, Ventricular septal defect, Patent ductus arteriosus, Umbilical her... ORPHA:96191
Restrictive Dermopathy, Lethal
Polyhydramnios, Atrial septal defect, Short umbilical cord, Premature rupture of membranes, Still... OMIM:275210
Lymphatic Malformation 6
Polyhydramnios, Atrial septal defect, Lymphedema, Pleural effusion, Facial edema, Edema, Ascites,... OMIM:616843
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Atrioventricular block, Bradycardia OMIM:614407
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Patent ductus ... OMIM:306955
Leigh Syndrome With Cardiomyopathy
Cardiac conduction abnormality, Pulmonic stenosis, Congestive heart failure, Dilated cardiomyopat... ORPHA:70474
Histiocytosis-Lymphadenopathy Plus Syndrome
Camptodactyly of finger, Atrial septal defect, Flexion contracture of finger, Ventricular septal ... OMIM:602782
Truncus Arteriosus
Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnormal heart morphology, Abnorm... ORPHA:3384
Gaucher Disease, Perinatal Lethal
Polyhydramnios, Arthrogryposis multiplex congenita, Hepatomegaly, Decreased fetal movement, Prema... OMIM:608013
Chronic Thromboembolic Pulmonary Hypertension
Palpitations, Right ventricular failure, Cardiac shunt, Increased pulmonary vascular resistance, ... ORPHA:70591
Meckel Syndrome, Type 1
Oligohydramnios, Large placenta, Patent ductus arteriosus, Single umbilical artery, Breech presen... OMIM:249000
Cutis Laxa, Autosomal Recessive, Type Iid
Atrial septal defect, Camptodactyly, Congestive heart failure, Right bundle branch block, Hypertr... OMIM:617403
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Prenatal maternal abnormality, Ischemic stroke, Aortic regurgitation, Hypovolemia, Subarachnoid h... ORPHA:91387
Leigh Syndrome With Nephrotic Syndrome
Intrauterine growth retardation, Cardiomegaly, Oligohydramnios ORPHA:255249
Leopard Syndrome 1
Subvalvular aortic stenosis, Scapular winging, Bundle branch block, Pulmonic stenosis, Third degr... OMIM:151100
Mucolipidosis Ii Alpha/Beta
Macroglossia, Diastasis recti, Aortic regurgitation, Umbilical hernia, Hepatomegaly, Heart murmur... OMIM:252500
Sandhoff Disease
Macroglossia, Orthostatic hypotension, Hepatomegaly, Cardiomegaly, Skeletal muscle atrophy, Hepat... OMIM:268800
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Low 1-minute APGAR score, ... ORPHA:99125
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Ventricular arrhythmia, Supraventricular arrhythmia, Skeletal muscle hypertrophy, Muscle hypertro... ORPHA:280365
Sickle Cell Anemia
Hepatomegaly, Cardiomegaly, Hypertension, Splenomegaly OMIM:603903
Melas
Dilated cardiomyopathy, Cardiac conduction abnormality, Wolff-Parkinson-White syndrome, Ragged-re... ORPHA:550
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Polyhydramnios, Flexion contracture of thumb, Atrial septal defect, Macroglossia, Diastasis recti... ORPHA:96334
Beck-Fahrner Syndrome
Facial hypotonia, Cardiomegaly, Ventricular septal defect OMIM:618798
Lyme Disease
Atrioventricular block, Arrhythmia ORPHA:91546
Kagami-Ogata Syndrome
Polyhydramnios, Diastasis recti, Large placenta, Premature birth ORPHA:254519
Simpson-Golabi-Behmel Syndrome
Polyhydramnios, Camptodactyly of finger, Macroglossia, Atrial septal defect, Bundle branch block,... ORPHA:373
Glycogen Storage Disease Due To Acid Maltase Deficiency
EMG: myopathic abnormalities, Macroglossia, Facial hypotonia, Flexion contracture, Lower limb mus... ORPHA:365
Developmental And Epileptic Encephalopathy 95
Macroglossia, Arthrogryposis multiplex congenita, Fetal akinesia sequence, Umbilical hernia, Hepa... OMIM:618143
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly ORPHA:349
Mucopolysaccharidosis Type 3
Reduced ejection fraction, Macroglossia, Abnormal mitral valve morphology, Flexion contracture, A... ORPHA:581
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart morphology OMIM:114620
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Thenar muscle atrophy, Hypoplasia of the musculature, Mucosal telangie... ORPHA:2463
Fucosidosis
Macroglossia, Flexion contracture, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:230000
Alternating Hemiplegia Of Childhood
Arrhythmia, Facial hypotonia, Cardiac conduction abnormality, Abnormal T-wave, Cardiomyopathy ORPHA:2131
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Tricuspid regurgitatio... OMIM:617506
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly, Telangiectasia of the skin, Lip telangiectasia, Telangiectasia of the oral mucosa ORPHA:79280
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Hepatomegaly, Dilated cardiomyopathy, Ragged-red muscle fibers, H... ORPHA:255210
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Arrhythmia, Myocarditis ORPHA:93317
Steinert Myotonic Dystrophy
Polyhydramnios, Mild fetal ventriculomegaly, Cardiac conduction abnormality, Prolonged QRS comple... ORPHA:273
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Hepatocellular necrosis, Cardiomegaly OMIM:618278
Cutis Laxa, Autosomal Recessive, Type Iic
Atrial septal defect, Aortic regurgitation, Tricuspid regurgitation, Biventricular hypertrophy, K... OMIM:617402
Bohring-Opitz Syndrome
Bilateral wrist flexion contracture, Facial hypotonia, Lower limb hypertonia, Congenital contract... ORPHA:97297
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Right ventricular hype... OMIM:300967
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Atrial septal defect, Congenital diaphragmatic hernia, Cardiomegaly, Left ventricular hypertrophy... OMIM:245600
Greenberg Dysplasia
Polyhydramnios, Stillbirth, Hepatomegaly, Neonatal death, Cardiomegaly, Nonimmune hydrops fetalis... OMIM:215140
Deafness, Unilateral, With Delayed Endolymphatic Hydrops
Edema OMIM:612097
Pearson Syndrome
Hydrops fetalis, Cardiac conduction abnormality, Abnormal heart morphology, Hepatomegaly, Splenom... ORPHA:699
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block
Sinoatrial block, Abnormal electrophysiology of sinoatrial node origin OMIM:609438
Thyrotoxic Periodic Paralysis
Palpitations, Abnormal muscle fiber morphology, Increased intramyocellular lipid droplets, Lower ... ORPHA:79102
Sarcoidosis
Arrhythmia, Abnormal cardiac ventricular function, Ventricular tachycardia, Hepatomegaly, Facial ... ORPHA:797
Beckwith-Wiedemann Syndrome
Diastasis recti, Macroglossia, Enlarged kidney, Hepatomegaly, Pancreatic hyperplasia, Cardiomegal... OMIM:130650
Abetalipoproteinemia
Hepatomegaly, Distal lower limb muscle weakness, Congestive heart failure, Cardiomegaly, Myopathy ORPHA:14
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Right bundle branch block OMIM:618590
Proteasome-Associated Autoinflammatory Syndrome 1
Camptodactyly of finger, Macroglossia, Arrhythmia, Flexion contracture of finger, Flexion contrac... OMIM:256040
Aicardi-Goutières Syndrome
Multiple joint contractures, Cardiomegaly, Myositis, Hepatosplenomegaly, Raynaud phenomenon, Hype... ORPHA:51
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Atrial septal defect, Cardiac conduction abnormality, Abnormal heart morphology, Ventricular sept... ORPHA:353281
Generalized Arterial Calcification Of Infancy
Polyhydramnios, Ventricular hypertrophy, Hydrops fetalis, Left ventricular systolic dysfunction, ... ORPHA:51608
Homozygous Familial Hypercholesterolemia
Myocardial steatosis, Angina pectoris, Abnormal left ventricular function, Tendon xanthomatosis, ... ORPHA:391665
Williams Syndrome
Abnormal endocardium morphology, Mitral regurgitation, Patent ductus arteriosus, Increased nuchal... ORPHA:904
Hyperoxaluria, Primary, Type I
Atrioventricular block, Arterial occlusion, Raynaud phenomenon, Intermittent claudication OMIM:259900
Yunis-Varon Syndrome
Polyhydramnios, Atrial septal defect, Hydrops fetalis, Ventricular septal defect, Renovascular hy... ORPHA:3472
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Polyhydramnios, Atrial septal defect, Cardiac conduction abnormality, Patent foramen ovale, Abnor... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Polyhydramnios, Atrial septal defect, Cardiac conduction abnormality, Patent foramen ovale, Abnor... ORPHA:353277
African Trypanosomiasis
Arrhythmia, Pericarditis, Hepatomegaly, Congestive heart failure, Third degree atrioventricular b... ORPHA:3385
Leptospirosis
Pulmonary hemorrhage, Arrhythmia, Pericarditis, Hypotension, Subconjunctival hemorrhage, Rhabdomy... ORPHA:509
Singleton-Merten Syndrome 1
Tendon rupture, Mitral valve calcification, Aortic valve stenosis, Congestive heart failure, Card... OMIM:182250
Visceral Steatosis, Congenital
Myocardial steatosis OMIM:228100

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 Gjc1

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 Gjc1.

No publications found that use IMPC mice or data for Gjc1.

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MGI Allele Allele Type Produced
Gjc1tm215089(L1L2_Bact_P) Targeting vectors
Gjc1tm1.1(KOMP)Vlcg Reporter-tagged deletion allele (post Cre, with no selection cassette) Mice, Tissue
Gjc1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) Mice, Targeting vectors, ES Cells

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