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Gene: Pold1 MGI:97741

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
polymerase (DNA directed), delta 1, catalytic subunit
Synonyms:
125kDa

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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.

Phenotype associated images not available

Human diseases caused by Pold1 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.

The table below shows human diseases associated to Pold1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia of the skin OMIM:615381

The table below shows human diseases predicted to be associated to Pold1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Left Ventricular Noncompaction 2
Left ventricular noncompaction cardiomyopathy OMIM:609470
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Cheilitis Glandularis
Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma ORPHA:1221
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Cardiomyopathy, Dilated, 1W
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611407
Cardiomyopathy, Dilated, 1Cc
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:613122
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Cardiomyopathy, Dilated, 1Jj
Reduced left ventricular ejection fraction, Dilated cardiomyopathy OMIM:615235
Familial Adenomatous Polyposis 3
Endometrial carcinoma, Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Breast carcinoma... OMIM:616415
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Muir-Torre Syndrome
Colonic diverticula, Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, ... OMIM:158320
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Adenomatous colonic polyp... ORPHA:454840
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Apc-Related Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Multiple gastric polyps, Papillary thyroid carcinoma, Fibrosarco... ORPHA:247806
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Rectal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Colorectal polyposis, Large inte... ORPHA:247798
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Hereditary Mixed Polyposis Syndrome
Endometrial carcinoma, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposi... ORPHA:157794
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Adenomatous colonic polyposis, Breast carcinoma, Neoplasm ... ORPHA:447877
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Cardiomyopathy, Dilated, 1Q
Dilated cardiomyopathy OMIM:609915
Cardiomyopathy, Dilated, 1H
Dilated cardiomyopathy OMIM:604288
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... ORPHA:217390
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Junctional Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79405
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Attenuated Familial Adenomatous Polyposis
Duodenal polyposis, Astrocytoma, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic p... ORPHA:220460
Bazex Syndrome
Neoplasm, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Familial Adenomatous Polyposis 1
Duodenal polyposis, Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medullobla... OMIM:175100
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy OMIM:212130
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Late-Onset Junctional Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79406
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma ORPHA:296
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Familial Adenomatous Polyposis
Duodenal polyposis, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Multiple ga... ORPHA:733
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Reduced left ventricular endsys... OMIM:620236
Fanconi Renotubular Syndrome 5
Emphysema, Lung adenocarcinoma, Pulmonary fibrosis OMIM:618913
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Atrial fibrillation, Dilate... OMIM:614672
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Liposarcoma
Sarcoma ORPHA:69078
Epidermodysplasia Verruciformis, Susceptibility To, 5
Squamous cell carcinoma of the skin, Verrucae OMIM:618309
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N... ORPHA:2591
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Pilomatrixoma
Pilomatrixoma, Neoplasm of head and neck ORPHA:91414
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Pancreatic Cancer, Susceptibility To, 5
Melanoma, Pancreatic adenocarcinoma OMIM:618680
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Left atrial enlargement OMIM:611556
Cardiomyopathy, Dilated, 3B
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:302045
Gardner Syndrome
Duodenal polyposis, Brain neoplasm, Astrocytoma, Multiple gastric polyps, Papillary thyroid carci... ORPHA:79665
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma OMIM:614564
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Juvenile Polyposis Syndrome
Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... OMIM:174900
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
Werner Syndrome
Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous... ORPHA:902
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,... OMIM:243700
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy OMIM:611283
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Pilomatrixoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenoc... OMIM:620189
Barth Syndrome
Dilated cardiomyopathy, Endocardial fibroelastosis ORPHA:111
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Pilomatrixoma
Pilomatrixoma OMIM:132600
Huriez Syndrome
Squamous cell carcinoma of the skin OMIM:181600
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter, Squamous cell carcinoma OMIM:618373
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy OMIM:615395
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Sarcoma ORPHA:69077
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Bronchiectasis, Neoplasm of the lung, Neoplasm,... ORPHA:662
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy OMIM:609500
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy OMIM:609016
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Primary peritoneal carcinoma, Breast carcinoma, Ovarian neoplasm, Melan... ORPHA:145
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Myopathy, Myofibrillar, 3
Cardiomyopathy OMIM:609200
Muscular Dystrophy, Cardiac Type
Abnormal EKG, Cardiomyopathy OMIM:309930
Microcephaly-Cardiomyopathy
Dilated cardiomyopathy OMIM:251220
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Muscular Dystrophy, Becker Type
Abnormal EKG, Arrhythmia, Cardiomyopathy OMIM:300376
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Left atrial enlargement, Cerebral hem... OMIM:619897
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Left bundle branch... OMIM:608758
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Chromomycosis
Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Fanconi Anemia, Complementation Group P
Cryptorchidism, Squamous cell carcinoma OMIM:613951
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit... ORPHA:75566
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma ORPHA:1501
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Melanoma, Neoplasm of the skin, Squamous cell carcinoma ORPHA:678
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne... ORPHA:137605
Gist-Plus Syndrome
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis OMIM:175510
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Functional intestinal obstruction, Midgut malrotation, Ovarian neoplasm, Adreno... ORPHA:100079
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Right bundle branch... OMIM:613243
Cardiomyopathy, Dilated, 1X
Reduced left ventricular ejection fraction, Increased left ventricular end-diastolic volume, Dila... OMIM:611615
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion, Fibrosarcoma, Abnormality of the ovary ORPHA:314478
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Pancreatic Cancer
Neoplasm of the pancreas OMIM:260350
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Adenocarcinoma Of The Anal Canal
Anal stenosis, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Rectal prolapse, Neopl... ORPHA:424016
Myopathy, Myofibrillar, 1
Dilated cardiomyopathy, Third degree atrioventricular block, Bradycardia, Restrictive cardiomyopa... OMIM:601419
Atrial Standstill
Ventricular escape rhythm, Cardiac conduction abnormality, Atrial standstill, Congestive heart fa... ORPHA:1344
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Turcot Syndrome With Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Neoplasm of the central nervous system, Thyroi... ORPHA:99818
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Emphysema OMIM:620365
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin OMIM:278740
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Desmoid Tumor
Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Myopathy, Distal, 4
Cardiomyopathy OMIM:614065
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Cardiomyopathy ORPHA:63273
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... ORPHA:44890
Pancreatic Cancer, Susceptibility To, 1
Pancreatic adenocarcinoma OMIM:606856
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Cardiomyopathy, Supraventricular arrhythmia ORPHA:320360
Familial Cutaneous Collagenoma
Atrial septal defect, Congestive heart failure, Angina pectoris, Cardiomyopathy ORPHA:53296
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Intestinal obstruction, Neurofibroma, Dysphagia OMIM:606764
Xeroderma Pigmentosum, Complementation Group C
Actinic keratosis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:278720
Lynch Syndrome 5
Neoplasm of the pancreas, Hereditary nonpolyposis colorectal carcinoma, Ovarian neoplasm, Endomet... OMIM:614350
Pancreatic Cancer, Susceptibility To, 2
Neoplasm of the pancreas OMIM:613347
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy OMIM:610100
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma OMIM:148210
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy OMIM:619651
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy ORPHA:868
Trichothiodystrophy 1, Photosensitive
Basal cell carcinoma, Squamous cell carcinoma OMIM:601675
Milroy Disease
Angiosarcoma, Hydrocele testis, Neoplasm of the skin ORPHA:79452
Bloom Syndrome
Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ... OMIM:210900
Oculocutaneous Albinism Type 1B
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79434
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy OMIM:255100
Distal Myopathy, Welander Type
Cardiomyopathy ORPHA:603
Dermatomyositis
Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int... ORPHA:221
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Rothmund-Thomson Syndrome Type 1
Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm... ORPHA:221008
Megabladder, Congenital
Atrial septal defect, Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompa... OMIM:618719
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Left atrial enlargement, Left ventricular noncompaction cardiomyopathy, Cardiogenic shock, Myofib... OMIM:619424
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Carney-Stratakis Syndrome
Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Paraganglioma... ORPHA:97286
Rothmund-Thomson Syndrome Type 2
Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma... ORPHA:221016
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Rothmund-Thomson Syndrome
Myelodysplasia, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm of the skin, Le... ORPHA:2909
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Cardiomyopathy, Dilated, 2E
Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systolic function OMIM:619492
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Gastrointestinal stroma tumor, Glo... OMIM:115310
Xeroderma Pigmentosum, Complementation Group B
Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma OMIM:610651
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Pulmonary insufficiency, Tricuspid regurgitation, Pulmonic stenosis OMIM:619433
Propionic Acidemia
Cardiomyopathy, Arrhythmia ORPHA:35
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:608099
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep... OMIM:613254
Endocardial Fibroelastosis
Congestive heart failure, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Distal Myotilinopathy
Cardiomyopathy ORPHA:98911
Attrv30M Amyloidosis
Cardiomyopathy, Arrhythmia, Atrioventricular block, Cardiomegaly ORPHA:85447
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Hemochromatosis, Type 2A
Congestive heart failure, Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy OMIM:602390
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Heart block, Cardiomyopathy, Abnormal left ventricular function ORPHA:98912
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Endocardial fibrosis OMIM:607685
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Transient ischemic attack, Cardiac arrest, Sudden cardiac death, First d... OMIM:115197
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho... OMIM:305000
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Oculocutaneous Albinism Type 1A
Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:79431
Rothmund-Thomson Syndrome, Type 2
Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Annular pancreas, Osteosarcoma OMIM:268400
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Retinoblastoma, Leuk... ORPHA:790
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy OMIM:620270
Kid Syndrome
Trichilemmoma, Neoplasm of the tongue, Neoplasm of the skin, Squamous cell carcinoma ORPHA:477
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Ca... OMIM:615745
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Squamous cell carcinoma ORPHA:89842
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Global systolic dysfunction OMIM:606842
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Fibrosarcoma, Histiocytoma, Osteosarcoma OMIM:112250
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Cardiomyopathy OMIM:608807
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Hereditary Acrokeratotic Poikiloderma
Transitional cell carcinoma of the bladder, Squamous cell carcinoma ORPHA:2907
Heart Block, Congenital
Atrioventricular block, Myocardial calcification, Absent atrioventricular node, Myocardial fibros... OMIM:234700
Trichothiodystrophy
Cryptorchidism, Recurrent bronchopulmonary infections, Squamous cell carcinoma ORPHA:33364
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Muscle Filaminopathy
Right bundle branch block, Cardiomyopathy, Left ventricular hypertrophy, Left ventricular diastol... ORPHA:171445
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Hereditary nonpolyposis colorectal carcinoma OMIM:612591
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy ORPHA:91130
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction... OMIM:614096
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Cardiomyopathy, Arrhythmia OMIM:612999
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Dyskeratosis Congenita, Digenic
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decreased testicular size OMIM:620040
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Xeroderma Pigmentosum, Complementation Group A
Melanoma, Squamous cell carcinoma of the skin OMIM:278700
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Myopathy, Distal, 7, Adult-Onset, X-Linked
Cardiomyopathy, Myofiber disarray OMIM:301075
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Recurrent pneumonia OMIM:619750
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, ST segment elevation, Ventricular tachycardia, Ventricular septal hypert... ORPHA:263297
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Arrhythmia, Cardiomyopathy ORPHA:3222
Congenital Myopathy 24
Cardiomyopathy, First degree atrioventricular block OMIM:617336
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Cardiomyopathy OMIM:609308
Monosomy 22
Aplasia of the thymus, Schwannoma, Gonadal neoplasm, Meningioma, Sarcoma ORPHA:96123
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy ORPHA:1369
Gne Myopathy
Cardiomyopathy ORPHA:602
Maternally-Inherited Diabetes And Deafness
Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia ORPHA:225
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Congestive heart failure, Dilated cardiom... OMIM:255160
Distal Nebulin Myopathy
Cardiomyopathy ORPHA:399103
Neurofibromatosis Type 1
Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo... ORPHA:636
Mitochondrial Complex I Deficiency, Nuclear Type 39
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... OMIM:620135
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Cardiomyopathy OMIM:615352
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:618236
Neutral Lipid Storage Disease With Myopathy
Cardiomyopathy OMIM:610717
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin ORPHA:220295
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Bradycardia OMIM:618815
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Oncogenic Osteomalacia
Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t... ORPHA:352540
Kindler Epidermolysis Bullosa
Neoplasm of the urethra, Squamous cell carcinoma ORPHA:2908
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Hemochromatosis, Type 2B
Congestive heart failure, Cardiomyopathy OMIM:613313
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy ORPHA:26792
Myopathy, X-Linked, With Postural Muscle Atrophy
Hypertrophic cardiomyopathy, Arrhythmia OMIM:300696
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Cowden Syndrome
Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman... ORPHA:201
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy OMIM:608540
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy ORPHA:67048
Oculocutaneous Albinism Type 2
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma ORPHA:79432
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Oropharyngeal squamous cell carcinoma, Esophageal carcinoma, Bronchiectasis, Recurrent upper resp... ORPHA:391487
Primary Sclerosing Cholangitis
Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Ulcerative colitis, Neoplasm of the... ORPHA:171
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy OMIM:613752
Alpha-B Crystallin-Related Late-Onset Myopathy
Cardiomyopathy ORPHA:399058
Sarcosinemia
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:3129
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:618234
Finnish Upper Limb-Onset Distal Myopathy
Cardiomyopathy ORPHA:399086
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Pudendal Neuralgia
Neoplasm of the genitourinary tract, Anal canal adenocarcinoma, Genital neoplasm ORPHA:60039
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Glycogen Storage Disease Iii
Ventricular hypertrophy, Cardiomyopathy OMIM:232400
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy OMIM:618229
Combined Oxidative Phosphorylation Deficiency 20
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Myopathy, Myofibrillar, 4
Cardiomyopathy OMIM:609452
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Atrial septal defect, Arrhythmia OMIM:249270
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Abnormality of the pulmonary vasculature ORPHA:33001
Congenital Erythropoietic Porphyria
Neoplasm of the skin, Squamous cell carcinoma ORPHA:79277
Carney Triad
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Leiomyosarcoma, Adrenocortical adenom... ORPHA:139411
Cowden Syndrome 1
Goiter, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Ovarian... OMIM:158350
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Cardiomyopathy ORPHA:1177
Lmna-Related Cardiocutaneous Progeria Syndrome
Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Basal cell carcinoma, Squamous cell ca... ORPHA:363618
Severe Generalized Junctional Epidermolysis Bullosa
Pneumothorax, Pneumonia, Squamous cell carcinoma ORPHA:79404
Isolated Anencephaly
Thymus hyperplasia ORPHA:563609
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Congestive heart failu... OMIM:610198
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Mitral regurgitat... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:617228
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Carnitine Deficiency, Systemic Primary
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Endocardial fibroel... OMIM:212140
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Duchenne Muscular Dystrophy
Cardiomyopathy ORPHA:98896
Dyskeratosis Congenita, Autosomal Dominant 1
Interstitial pneumonitis, Squamous cell carcinoma of the skin, Pulmonary fibrosis, Myelodysplasia OMIM:127550
Diamond-Blackfan Anemia
Acute myeloid leukemia, Cleft soft palate, Myelodysplasia, High palate, Adenocarcinoma of the col... ORPHA:124
Hemochromatosis, Type 4
Cardiomyopathy, Arrhythmia OMIM:606069
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79408
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Cardiomyopathy, Mitral regurgitation, Dilated cardiomyopathy, Telangiectasia of the skin OMIM:212112
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Left ventricular noncompaction OMIM:252011
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Cardiomyopathy OMIM:619566
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Abnormal left ventricular function, Cardiomyopathy OMIM:613155
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Hypertension, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure ORPHA:1349
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:99880
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy OMIM:618378
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Cardiomyopathy, Abnormal atrioventricular conduction ORPHA:329336
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Proteus-Like Syndrome
Thymus hyperplasia, Splenomegaly, Abnormality of the parathyroid gland, Polycystic ovaries, Heman... ORPHA:2969
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi... ORPHA:143
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Cardiac arrest, Ventricular tachycardia, Atrioventricular block, Prematu... OMIM:212138
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Decreased testicular size, Carcinoma OMIM:610644
Polyarteritis Nodosa
Raynaud phenomenon, Cardiomyopathy, Pericarditis, Hypertension ORPHA:767
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology ORPHA:93476
Intermediate Nemaline Myopathy
Cardiomyopathy ORPHA:171433
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Congestive heart failure, ST segment e... OMIM:261740
Tibial Muscular Dystrophy
Cardiomyopathy ORPHA:609
Myopathy, Myofibrillar, 6
Hypertrophic cardiomyopathy, Mitral regurgitation, Restrictive cardiomyopathy OMIM:612954
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276556
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Cardiac conduction ab... ORPHA:439232
Hemochromatosis, Type 3
Cardiomyopathy OMIM:604250
Pituitary Adenoma 1, Multiple Types
Left ventricular hypertrophy, Hypertension, Cardiomyopathy OMIM:102200
Sengers Syndrome
Pulmonary arterial hypertension, Hypertrophic cardiomyopathy, Cardiac arrest, Sudden cardiac death OMIM:212350
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a... ORPHA:99889
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Pulmonary arterial hypertension, ... OMIM:619051
Cyclic Vomiting Syndrome
Cardiomyopathy OMIM:500007
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276575
Hemochromatosis, Type 1
Cardiomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia OMIM:235200
Combined Oxidative Phosphorylation Deficiency 10
Pericardial effusion, Hypertrophic cardiomyopathy, Bradycardia, Cardiomegaly OMIM:614702
Refsum Disease, Classic
Cardiomyopathy, Arrhythmia, Congestive heart failure, Cardiomegaly OMIM:266500
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale ORPHA:88630
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:310200
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Left ventricular hypertrophy, Cardiomyopathy ORPHA:86812
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Tachycardia, Palpitations ORPHA:276580
Hermansky-Pudlak Syndrome
Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis ORPHA:79430
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, Abnormal left ventricular fun... ORPHA:3208
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Proximal Myopathy With Extrapyramidal Signs
Cardiomyopathy ORPHA:401768
Pyruvate Dehydrogenase E3 Deficiency
Cardiomyopathy, Abnormal cardiac ventricular function ORPHA:2394
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy OMIM:616896
Autosomal Recessive Progressive External Ophthalmoplegia
Cardiomyopathy ORPHA:254886
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhythmia, Hypertrop... ORPHA:330001
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia ORPHA:79279
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy ORPHA:3173
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Congestive heart failure, Abnormal aortic valve morphology, ... ORPHA:1194
Noonan Syndrome 8
Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:615355
Infantile Liver Failure Syndrome 2
Cardiomyopathy OMIM:616483
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Cardiomyopathy ORPHA:119
American Trypanosomiasis
Myocarditis, Cardiomyopathy, Arrhythmia, Congestive heart failure ORPHA:3386
Childhood-Onset Nemaline Myopathy
Cardiomyopathy ORPHA:171439
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy OMIM:616549
Joubert Syndrome 32
Hypertrophic cardiomyopathy OMIM:617757
Carnitine Palmitoyl Transferase 1A Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Sudden cardiac death ORPHA:156
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia ORPHA:772
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:231530
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy ORPHA:79312
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cardiomyopathy, Arrhythmia, Bradycardia OMIM:609286
Glycogen Storage Disease Iv
Cardiomyopathy, Portal hypertension OMIM:232500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Squamous cell carcinoma of the skin ORPHA:79396
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy OMIM:620326
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Congestive heart failur... OMIM:302060
Neuraminidase Deficiency
Cardiomyopathy, Cardiomegaly OMIM:256550
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cardiomyopathy, Congestive heart failure ORPHA:52430
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy ORPHA:1215
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Cardiomyopathy OMIM:619046
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:611126
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy ORPHA:324525
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Heart murmur OMIM:615418
Common Variable Immunodeficiency
Gastrointestinal stroma tumor, Lymphoma, Anal atresia ORPHA:1572
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension OMIM:619902
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Secundum atrial septal defect, Cardiomyopathy, Patent foramen ovale, Congestive heart failure OMIM:616866
Sotos Syndrome
Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas... ORPHA:821
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Combined Oxidative Phosphorylation Deficiency 9
Hypertrophic cardiomyopathy, Patent foramen ovale OMIM:614582
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cardiomyopathy, Mitral regurgitation, Mitral valve prolapse OMIM:258450
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Cardiac arrest OMIM:620167
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia ORPHA:96
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Cardiomyopathy, Cardiac arrest, Cardiomegaly OMIM:617713
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Abnormal cardiac ventricle morphology, Jaw claudicatio... ORPHA:85443
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Cardiomyopathy, Arrhythmia ORPHA:228305
Mcleod Syndrome
Cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation OMIM:300842
Alg3-Cdg
Cardiomyopathy ORPHA:79321
Propionic Acidemia
Cardiomyopathy, Cerebellar hemorrhage OMIM:606054
Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Sudden cardiac death, Supraventricular arrhythmia, Dilated cardiomyopa... ORPHA:98853
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Cardiomyopathy OMIM:617710
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Cryptorchidism, Spinal cord tumor, Ne... ORPHA:353281
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Kearns-Sayre Syndrome
Cardiomyopathy, Arrhythmia, Third degree atrioventricular block OMIM:530000
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Hy... ORPHA:99901
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Cardiomyopathy, Mitral regurgitation, Left ven... ORPHA:746
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Sudden cardiac death, Ca... OMIM:201475
Symptomatic Form Of Hfe-Related Hemochromatosis
Portal hypertension, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Elevated... ORPHA:465508
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal pericardium morphology, ... ORPHA:183
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Cardiomyopathy OMIM:620089
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Telangiectasia... ORPHA:247691
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Cardiomyopathy ORPHA:521411
Congenital Enterovirus Infection
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension ORPHA:292
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Ven... OMIM:300952
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Cardiomyopathy, Cerebellar hemorrhage OMIM:251000
Congenital Muscular Dystrophy With Cerebellar Involvement
Cardiomyopathy ORPHA:370959
Carnitine-Acylcarnitine Translocase Deficiency
Cardiomyopathy, Arrhythmia, Ventricular tachycardia, Hypotension ORPHA:159
Juvenile Dermatomyositis
Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Telangiectasia o... ORPHA:93672
Refsum Disease
Heart block, Cardiomyopathy ORPHA:773
Lethal Acantholytic Erosive Disorder
Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Cardiomegaly ORPHA:158687
Mitochondrial Complex I Deficiency, Nuclear Type 29
Hypertrophic cardiomyopathy, Palpitations, Abnormal heart morphology OMIM:618250
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy OMIM:618839
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Tachycardia ORPHA:368
Multiple Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Arrhythmia, Congestive heart failure, Abnormal heart morphology ORPHA:26791
Adult-Onset Distal Myopathy Due To Vcp Mutation
Cardiomyopathy ORPHA:329478
Beta-Thalassemia
Hypertrophic cardiomyopathy ORPHA:848
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly OMIM:105210
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Abnormal heart val... OMIM:230500
Gm1 Gangliosidosis
Congestive heart failure, Ventricular septal defect, Cardiomyopathy, Abnormal heart morphology ORPHA:354
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Cardiomegaly OMIM:619259
Tetrasomy 9P
Absent gallbladder, Pilomatrixoma, Cryptorchidism, Cleft palate, High palate, Bifid uvula, Median... ORPHA:3310
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Abnormal pulmonary valve morphology, Myocar... ORPHA:500
Vici Syndrome
Cardiomyopathy ORPHA:1493
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval, Heart murmur, Lo... ORPHA:308552
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin... ORPHA:464321
8P23.1 Microdeletion Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiac septum morphology, Hypoplastic left heart, Transpos... ORPHA:251071
Melas
Wolff-Parkinson-White syndrome, Cardiac conduction abnormality, Dilated cardiomyopathy, Concentri... ORPHA:550
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Glioma, Cerebellar glioma, Rhabdomyosarcoma, Myelodysp... ORPHA:97685
Wolfram Syndrome 1
Cardiomyopathy OMIM:222300
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Low-output congestive heart failure, Abnormal cardiomyocyte morphology, Cardiomy... ORPHA:565612
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy OMIM:614922
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia OMIM:619036
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure OMIM:615895
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis OMIM:225750
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Abnormal endocardium morphology, Angina pectori... ORPHA:324
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy OMIM:614462
Martsolf Syndrome 1
Cardiomyopathy, Cardiac arrest, Congestive heart failure OMIM:212720
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis OMIM:203300
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Men... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Recurrent respiratory infections, Pneumonia, Pilomatrixoma, Cryptorchidism, Hydrocele testis, Men... ORPHA:353277
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Noonan Syndrome 10
Ventricular septal defect, Mitral valve prolapse, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:616564
Pituitary Gigantism
Left ventricular hypertrophy, Hypertrophic cardiomyopathy ORPHA:99725
Arterial Tortuosity Syndrome
Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congestive heart failure, Myoc... ORPHA:3342
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy OMIM:618835
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cardiomegaly, Heart block, Cardiomyopathy, Abnormal myocardium morphology, Arrhythmia ORPHA:228308
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Cardiac arrest, Ventricular tachycardia, Torsade de pointes, Hypertrophic cardiomyopathy, Prolong... OMIM:616878
Mucolipidosis Type Ii
Aortic regurgitation, Abnormal atrioventricular valve physiology, Abnormal mitral valve morpholog... ORPHA:576
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutaneous neurofi... ORPHA:363700
3-Methylglutaconic Aciduria Type 7
Cardiomyopathy ORPHA:445038
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy ORPHA:88618
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:607014
Proteus Syndrome
Thymus hyperplasia, Macroorchidism, Testicular neoplasm, Retinal hamartoma, Neoplasm of the thymu... ORPHA:744
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Hurler Syndrome
Abnormal heart valve morphology, Angina pectoris, Cardiomyopathy, Hypertension, Endocardial fibro... ORPHA:93473
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Cardiomyopathy ORPHA:206549
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Cardiomyopathy, Dilatation of the ventricular cavity ORPHA:363623
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:71212
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal cardiovascular system physiology, Hypertension ORPHA:79086
Congenital Disorder Of Glycosylation, Type Ia
Pericardial effusion, Cardiomyopathy, Pericarditis OMIM:212065
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Cardiomyopathy OMIM:201470
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Abnormal heart valve morphology OMIM:253220
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy ORPHA:572798
Mucopolysaccharidosis, Type Vi
Tricuspid regurgitation, Cardiomyopathy, Mitral regurgitation, Pulmonary arterial hypertension, M... OMIM:253200
Friedreich Ataxia
Cardiomyopathy ORPHA:95
Von Hippel-Lindau Disease
Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens... ORPHA:892
Vici Syndrome
Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Atrial septal defect, Left vent... OMIM:242840
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermittent claudication ORPHA:416
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Cardiomyopathy, Arrhythmia, Reduced left ventricular ejection fraction, Pulmonary arterial hypert... ORPHA:258
Carnitine Palmitoyltransferase Ii Deficiency
Cardiomyopathy, Arrhythmia ORPHA:157
Noonan Syndrome 3
Ventricular septal defect, Mitral valve prolapse, Pulmonic stenosis, Tricuspid valve prolapse, At... OMIM:609942
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Cardiomyopathy ORPHA:264580
Alternating Hemiplegia Of Childhood
Abnormal T-wave, Arrhythmia, Cardiac conduction abnormality, Cardiomyopathy ORPHA:2131
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy OMIM:616051
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy OMIM:616084
Gm1 Gangliosidosis Type 1
Cardiomyopathy ORPHA:79255
Neutral Lipid Storage Disease With Ichthyosis
Cardiomyopathy ORPHA:98907
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Toriello-Carey Syndrome
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis ORPHA:3338
Cartilage-Hair Hypoplasia
Heart block, Cardiomyopathy, Abnormal cardiac septum morphology ORPHA:175
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Junctional ectopic tachycardia, Atrial septal defect... OMIM:309801
Mucopolysaccharidosis Type 2
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal heart morphology, ... ORPHA:580
Mucopolysaccharidosis Type 2, Severe Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Heart murmur, Cardiomyopath... ORPHA:217093
Postinfectious Vasculitis
Cerebral vasculitis, Raynaud phenomenon, Cardiomyopathy, Hypertension, Ischemic stroke, Vasculiti... ORPHA:48435
Leopard Syndrome 1
Bundle branch block, Complete atrioventricular canal defect, Mitral valve prolapse, Third degree ... OMIM:151100
Koolen-De Vries Syndrome Due To A Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Bicuspid aortic valve, Ventricular septal defect, Intraventricular hemorrhage, Abnormal heart mor... ORPHA:363958
Oculopharyngodistal Myopathy 1
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation OMIM:164310
Cockayne Syndrome Type 3
Retinal hemorrhage, Cardiomyopathy, Subdural hemorrhage, Increased blood pressure ORPHA:90324
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy ORPHA:3463
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Cardiomyopathy, Atrial sep... ORPHA:373
Cutis Laxa, Autosomal Recessive, Type Iid
Hypoplastic right heart, Congestive heart failure, Right bundle branch block, Atrial septal defec... OMIM:617403
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Hypertension, Cardiomyopathy,... ORPHA:3472
Pearson Syndrome
Cardiomyopathy, Cardiac conduction abnormality, Abnormal heart morphology ORPHA:699
Neutral Lipid Storage Myopathy
Cardiomyopathy, Congestive heart failure ORPHA:98908
Zimmermann-Laband Syndrome 1
Cardiomyopathy OMIM:135500
Lipodystrophy, Congenital Generalized, Type 1
Cardiomyopathy OMIM:608594
Beckwith-Wiedemann Syndrome
Cardiomyopathy, Cardiomegaly OMIM:130650
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Cardiomyopathy, Total anomalous pulmonary venous return, Transposition... OMIM:312870
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy ORPHA:480880
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Telangiectasia of the skin OMIM:615381

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 Pold1

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 Pold1.

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

Title Journal IMPC Allele PubMed ID
A hypomorphic mutation in Pold1 disrupts the coordination of embryo size expansion and morphogenesis during gastrulation. Biology open (August 2022) Pold1tm1a(EUCOMM)Wtsi PMC9382117

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Pold1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Pold1tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Pold1tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pold1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Pold1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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