Gene: Kras MGI:96680

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

Kirsten rat sarcoma viral oncogene homolog

Synonyms:

Ki-ras, K-ras, Kras-2, Kras2

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 Kras 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.

Human diseases associated with Kras (19 diseases)
Human diseases predicted to be associated with Kras (2200 diseases)

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

Disease	Matching phenotypes	Source
Lung Cancer	Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma	OMIM:211980
Breast Cancer	Breast carcinoma	OMIM:114480
Bladder Cancer	Transitional cell carcinoma of the bladder, Bladder neoplasm	OMIM:109800
Noonan Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Sensorineural hearing impairment, Short sta...	ORPHA:648
Ras-Associated Autoimmune Leukoproliferative Disorder	Splenomegaly, Hemolytic anemia, Increased circulating antibody level, Lymphocytosis, Pancytopenia...	OMIM:614470
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Noonan Syndrome 3	Patent ductus arteriosus, Patent foramen ovale, Sagittal craniosynostosis, Scaphocephaly, Ventric...	OMIM:609942
Gastric Cancer	Stomach cancer	OMIM:613659
Lynch Syndrome	Pancreatic adenocarcinoma, Benign neoplasm of the central nervous system, Urinary tract neoplasm,...	ORPHA:144
Cardiofaciocutaneous Syndrome	Macrotia, Short stature, Thickened helices, Coarse facial features, Biparietal narrowing, Abnorma...	ORPHA:1340
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Breast carcinoma, Neoplasm of the liver, Melanoma, Colon cancer, Ovari...	ORPHA:1333
Oculoectodermal Syndrome	Transient ischemic attack, Hypertrophic cardiomyopathy, Atrial septal defect	OMIM:600268
Cardiofaciocutaneous Syndrome 2	Coarse facial features, Low-set ears, Mitral valve prolapse, Posteriorly rotated ears	OMIM:615278
Linear Nevus Sebaceus Syndrome	Cavernous hemangioma, Adenoma sebaceum	ORPHA:2612
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Macrocephaly, Craniofacial hyperostosis, Aortic valve stenosis, ...	ORPHA:2396
Toriello-Lacassie-Droste Syndrome	Abnormal facial shape, Macrocephaly, Epispadias, Short nose, Failure to thrive, Abnormality of th...	ORPHA:3339
Schimmelpenning-Feuerstein-Mims Syndrome	Basal cell carcinoma, Hemangioma	OMIM:163200
Arteriovenous Malformations Of The Brain		OMIM:108010

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

Disease	Matching phenotypes	Source
Lung Cancer	Lung adenocarcinoma, Alveolar cell carcinoma, Non-small cell lung carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Renal cell carcinoma, Malignant mesothelioma, Lung adenocarcinoma, Meningioma, Uveal melanoma, Cu...	OMIM:614327
Cardiomyopathy, Dilated, 1M	Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f...	OMIM:607482
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Cardiomyopathy, Dilated, 1W	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:611407
Cardiomyopathy, Dilated, 1Cc	Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Reduced left ventricular...	OMIM:613122
Cardiomyopathy, Dilated, 2A	Myofiber disarray, Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular e...	OMIM:611880
Li-Fraumeni Syndrome 2	Stomach cancer, Breast carcinoma, Sarcoma, Meningioma, Glioma	OMIM:609265
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Cardiomyopathy, Dilated, 1Jj	Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:615235
Congenital Pulmonary Veins Atresia Or Stenosis	Hypertension, Abnormal cardiac septum morphology	ORPHA:3188
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Sarcoma, Squamous cell carcinom...	OMIM:606719
Cardiomyopathy, Dilated, 1Ee	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:613252
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth...	OMIM:613424
Cardiomyopathy, Dilated, 1Ff	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:613286
Cardiomyopathy, Dilated, 1Dd	Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca...	OMIM:613172
Cardiomyopathy, Dilated, 1Hh	Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume	OMIM:613881
Cardiomyopathy, Dilated, 1L	Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre...	OMIM:606685
Li-Fraumeni Syndrome	Nephroblastoma, Breast carcinoma, Prostate cancer, Adrenocortical carcinoma, Choriocarcinoma, Neo...	OMIM:151623
Epidermodysplasia Verruciformis, Susceptibility To, 3	Squamous cell carcinoma, Basal cell carcinoma, Verrucae	OMIM:618267
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy	OMIM:609909
Cardiomyopathy, Dilated, 1I	Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congestive heart failure, Red...	OMIM:604765
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Left Ventricular Noncompaction 10	Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Incre...	OMIM:615396
Cardiomyopathy, Dilated, 1J	Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi...	OMIM:605362
Cardiomyopathy, Dilated, 1Z	Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy	OMIM:611879
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula...	OMIM:302045
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Congestive heart fail...	OMIM:601493
Cardiomyopathy, Dilated, 1Gg	Reduced left ventricular ejection fraction, Cardiogenic shock, Congestive heart failure, Dilated ...	OMIM:613642
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Congestive heart failure, Left ve...	OMIM:615373
Sensorineural Deafness With Dilated Cardiomyopathy	Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure	ORPHA:217622
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Hypertension, Essential	Elevated systolic blood pressure, Elevated diastolic blood pressure, Elevated mean arterial pressure	OMIM:145500
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma	ORPHA:2023
His Bundle Tachycardia	Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia	ORPHA:3283
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Pancreatic squamous cell carcinom...	ORPHA:443167
Cardiomyopathy, Dilated, 1K	Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm	OMIM:605582
Cardiomyopathy, Dilated, 1B	Impaired myocardial contractility, Ventricular arrhythmia, Congestive heart failure, Dilated card...	OMIM:600884
Cardiomyopathy, Dilated, 1U	Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Conge...	OMIM:613694
Mitochondrial Complex Iv Deficiency, Nuclear Type 9	Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation	OMIM:616500
Cardiomyopathy, Dilated, 1Bb	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:612877
Cardiomyopathy, Familial Hypertrophic, 3	Sudden cardiac death, Hypertrophic cardiomyopathy	OMIM:115196
Cheilitis Glandularis	Squamous cell carcinoma, Abnormal salivary gland morphology, Neoplasm	ORPHA:1221
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Supraventricular tachycardia, Cardiac arrest, Left ventricular hypertrophy, Di...	OMIM:612158
Cardiomyopathy, Dilated, 1X	Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Calf ...	OMIM:611615
Enchondromatosis, Multiple, Ollier Type	Multiple enchondromatosis, Hemangioma, Chondrosarcoma	OMIM:166000
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Dilated cardiomyopathy, Congestive heart failure, Increased left ve...	OMIM:615248
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Carvajal Syndrome	Congestive heart failure, Dilated cardiomyopathy	ORPHA:65282
Heart-Hand Syndrome, Slovenian Type	Supraventricular arrhythmia, Dilated cardiomyopathy, Abnormal electrophysiology of sinoatrial nod...	ORPHA:168796
Cardiomyopathy, Dilated, 2B	Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e...	OMIM:614672
Desmoid Disease, Hereditary	Breast carcinoma, Colon cancer, Colorectal polyposis, Desmoid tumors	OMIM:135290
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Schopf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Poroma, Apocrine hidrocystoma, Basal cell carcinoma	OMIM:224750
Glycogen Storage Disease Due To Lamp-2 Deficiency	Hypertrophic cardiomyopathy, Dilated cardiomyopathy	ORPHA:34587
Left Ventricular Noncompaction 2	Left ventricular noncompaction cardiomyopathy	OMIM:609470
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Cardiomyopathy, Dilated, 1Q	Dilated cardiomyopathy	OMIM:609915
Cardiomyopathy, Dilated, 1H	Dilated cardiomyopathy	OMIM:604288
Hyperkeratosis Lenticularis Perstans	Squamous cell carcinoma, Basal cell carcinoma	ORPHA:409
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Cardiomyopathy, Familial Hypertrophic, 9	Hypertrophic cardiomyopathy	OMIM:613765
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Cardiomyopathy, Dilated, 1O	Impaired myocardial contractility, Ventricular tachycardia, Congestive heart failure, Dilated car...	OMIM:608569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,...	OMIM:608099
Cardiomyopathy, Dilated, 1V	Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Congestive hea...	OMIM:613697
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Pallor, Persistence of hemoglobin F, Hepatomegaly, Splenomegaly	ORPHA:46532
Microcephaly-Cardiomyopathy	Dilated cardiomyopathy	OMIM:251220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4	Limb-girdle muscle weakness, Muscular dystrophy, Dilated cardiomyopathy, Calf muscle pseudohypert...	OMIM:604286
Isobutyryl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy	OMIM:611283
Barth Syndrome	Dilated cardiomyopathy, Endocardial fibroelastosis	ORPHA:111
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Carcinoma, Unilateral vestibular schwannoma	OMIM:603641
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Sudden cardiac death, Limb-girdle muscle weakness, Elbow flexion contracture, Decreased cervical ...	OMIM:181350
Multiple Enchondromatosis, Maffucci Type	Multiple enchondromatosis, Hemangioma, Chondrosarcoma	OMIM:614569
Schöpf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm	ORPHA:50944
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Dilated cardiomyopathy, Reduced left ventricular ejection fraction	OMIM:618189
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 15	Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent...	OMIM:613255
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Pancreatic adenocarcinoma, Breast carcinoma, Seborrheic keratosis, Duodenal adenocarcinoma, Squam...	ORPHA:454840
Acquired Ichthyosis	Lymphoma, Sarcoma, Multiple myeloma, Neoplasm	ORPHA:454
Cardiomyopathy, Dilated, 2G	Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray...	OMIM:619897
Xeroderma Pigmentosum Variant	Melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:90342
Cardiomyopathy, Dilated, 1G	Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Pre...	OMIM:604145
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Recurrent sinusitis, Anal canal sq...	ORPHA:217390
Cardiac Lipidosis, Familial	Congestive heart failure, Cardiomyopathy	OMIM:212080
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Interosseus muscle atrophy, Dilated cardiomyopathy, Thenar muscle atrophy, Distal lower limb musc...	OMIM:619903
Ataxia, Deafness, And Cardiomyopathy	Cardiomyopathy	OMIM:208750
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3	Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia...	OMIM:602086
Cardiomyopathy, Dilated, 2F	Severely reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyop...	OMIM:619747
Milroy Disease	Angiosarcoma, Hydrocele testis, Neoplasm of the skin	ORPHA:79452
Progressive Osseous Heteroplasia	Sarcoma, Abnormality of the parathyroid gland	ORPHA:2762
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta...	OMIM:611705
Cardiomyopathy, Dilated, 1Ii	Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Ventricular tachycardia,...	OMIM:615184
Paraneoplastic Pemphigus	Thymoma, Sarcoma, B-cell lymphoma	ORPHA:63455
Cardiomyopathy, Dilated, 1Nn	Reduced left ventricular ejection fraction, Ventricular arrhythmia, Congestive heart failure, Inc...	OMIM:615916
Fkrp-Related Limb-Girdle Muscular Dystrophy R9	Abnormality of the Achilles tendon, Calf muscle hypertrophy, Muscular dystrophy, Reduced muscle f...	ORPHA:34515
Cardiomyopathy, Dilated, 1D	Sudden cardiac death, Reduced left ventricular ejection fraction, Left ventricular hypertrophy, C...	OMIM:601494
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Sudden cardiac death, Effort-induced polymorphic ventricular tachycardia, Syncope, Atrial standst...	OMIM:604772
Congenital Heart Defects, Multiple Types, 5	Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy...	OMIM:617912
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1	Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy	OMIM:107970
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Pallor, ...	OMIM:615631
Junctional Epidermolysis Bullosa Inversa	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:79405
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm...	ORPHA:1345
Myopathy, Distal, 1	Toe extensor amyotrophy, Weakness of long finger extensor muscles, Amyotrophy of ankle musculatur...	OMIM:160500
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension	OMIM:166990
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue	Triangular tongue, Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Macroglos...	OMIM:616827
Myopathy, Myofibrillar, 1	Restrictive cardiomyopathy, Third degree atrioventricular block, Dilated cardiomyopathy, EMG: myo...	OMIM:601419
Maffucci Syndrome	Breast carcinoma, Astrocytoma, Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm o...	ORPHA:163634
Ollier Disease	Chondrosarcoma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Hemangioma, Neoplasm, ...	ORPHA:296
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Calf muscle hypertrophy, Absent muscle dystrophin expression, Elbow flexion contracture, Left ven...	ORPHA:206546
Heart-Hand Syndrome, Slovenian Type	Myopathy, Dilated cardiomyopathy	OMIM:610140
Cardiomyopathy, Familial Hypertrophic, 28	Sudden cardiac death, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruct...	OMIM:619402
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Nephroblastoma, Acute myeloid leukemia, Burkitt lymphoma, Prostate cancer, Neoplasm of the lung, ...	ORPHA:158057
Pomt2-Related Limb-Girdle Muscular Dystrophy R14	Right bundle branch block, Limb-girdle muscular dystrophy, Calf muscle hypertrophy, Reduced muscl...	ORPHA:206559
Coronary Artery Disease, Autosomal Dominant, 1	Myocardial infarction, Hypertension	OMIM:608320
Cardiomyopathy, Dilated, 1E	Supraventricular tachycardia, Right bundle branch block, Reduced left ventricular ejection fracti...	OMIM:601154
Myopathy, Myofibrillar, 3	Achilles tendon contracture, Muscle fiber cytoplasmatic inclusion bodies, Myofibrillar myopathy, ...	OMIM:609200
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Dilated cardiomyopathy, Musc...	OMIM:300718
Late-Onset Junctional Epidermolysis Bullosa	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:79406
Cardiomyopathy, Dilated, 2D	Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef...	OMIM:619371
Polycystic Kidney Disease 7	Hypertension	OMIM:620056
Left Ventricular Noncompaction 7	Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction	OMIM:615092
Eosinophilia, Familial	Anemia, Myocardial eosinophilic infiltration, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Myopathy, Limb-girdle mus...	OMIM:612937
Liposarcoma	Sarcoma	ORPHA:69078
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly	ORPHA:294
Paragangliomas 6	Hypertension	OMIM:618464
Dpm3-Cdg	Calf muscle hypertrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle weaknes...	ORPHA:263494
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Failure to thrive, Hep...	OMIM:615285
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Self-Improving Dystrophic Epidermolysis Bullosa	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:79411
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Familial Isolated Dilated Cardiomyopathy	Myopathy, Dilated cardiomyopathy	ORPHA:154
Alpha-N-Acetylgalactosaminidase Deficiency Type 3	Hypertrophic cardiomyopathy	ORPHA:79281
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlar...	OMIM:115210
Breast Cancer	Breast carcinoma	OMIM:114480
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Hypereosinophilic Syndrome, Idiopathic	Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder, Hepatomegaly, Eosi...	OMIM:607685
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Type 1 fibers relatively smaller than type 2 fibers, Dilated cardiomyopathy, Myopathy, Frontalis ...	OMIM:300580
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Breast carcinoma, Stomach cancer, Adenocarcinoma of the small intestin...	ORPHA:79501
Mast Cell Sarcoma	Sarcoma	ORPHA:66661
Cardiomyopathy, Dilated, 2E	Ebstein anomaly of the tricuspid valve, Reduced systolic function, Dilated cardiomyopathy	OMIM:619492
Fanconi Renotubular Syndrome 5	Pulmonary fibrosis, Lung adenocarcinoma, Emphysema	OMIM:618913
Large Congenital Melanocytic Nevus	Sarcoma, Neoplasm of the skin, Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma	ORPHA:626
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom...	OMIM:611556
Necrobiosis Lipoidica	Squamous cell carcinoma	ORPHA:542592
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Ventricular tachycardia, Cardiomyocyte hypertrophy, Congestive heart failure	OMIM:605676
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Right axis deviation, Right bundle branch block, Limb-girdle muscle weakness, Centrally nucleated...	OMIM:255160
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Bladder Cancer	Transitional cell carcinoma of the bladder, Bladder neoplasm	OMIM:109800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitat...	OMIM:610476
Pyruvate Kinase Deficiency Of Red Cells	Cholelithiasis, Jaundice, Erythroid hyperplasia, Reticulocytosis, Pallor, Nonimmune hydrops fetal...	OMIM:266200
D-2-Hydroxyglutaric Aciduria 2	Cardiomyopathy	OMIM:613657
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Recurrent Respiratory Papillomatosis	Squamous cell carcinoma, Recurrent pneumonia, Recurrent upper respiratory tract infections, Abnor...	ORPHA:60032
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension	ORPHA:2820
Cardiomyopathy, Familial Hypertrophic, 7	Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Hype...	OMIM:613690
Myopathy, Autophagic Vacuolar, Infantile-Onset	Hypertrophic cardiomyopathy, Myopathy, Autophagic vacuoles	OMIM:609500
Epidermodysplasia Verruciformis	Squamous cell carcinoma, Verrucae	ORPHA:302
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2	Transient ischemic attack, Lacunar stroke, Hypertension	OMIM:616779
Cardiomyopathy, Familial Hypertrophic, 25	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Infantile Myofibromatosis	Fibroma, Benign neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Gingiv...	ORPHA:2591
Familial Dyskinesia And Facial Myokymia	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	ORPHA:324588
Cardiomyopathy Associated With Myopathy And Sudden Death	Myopathy, Asymmetric septal hypertrophy	OMIM:212130
Preeclampsia/Eclampsia 1	Hypertension	OMIM:189800
Myopathy, Distal, 4	Thenar muscle weakness, Distal lower limb amyotrophy, Abnormality of the calf musculature, Distal...	OMIM:614065
Cardiomyopathy, Dilated, 1A	Sudden cardiac death, Third degree atrioventricular block, Pericardial effusion, Ventricular arrh...	OMIM:115200
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, EMG: myopathic abnormalities, Distal upper limb amyotro...	ORPHA:603
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Cardiomyopathy, Dilated, 1Y	Ebstein anomaly of the tricuspid valve, Congestive heart failure, Dilated cardiomyopathy, Increas...	OMIM:611878
Meige Disease	Pleural effusion, Angiosarcoma	ORPHA:90186
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Malignant mesothelioma, Subpleural honeycombing, Lung...	ORPHA:2302
Loeffler Endocarditis	Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard...	ORPHA:75566
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Splenomegaly, Hepatomegaly	ORPHA:2274
Gne Myopathy	Tibialis muscle weakness, Increased variability in muscle fiber diameter, Weakness of long finger...	ORPHA:602
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Reduced left vent...	OMIM:613876
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sudden cardiac death, Supraventricular tachycardia, Sinoatrial block, Pericardial effusion, Ventr...	ORPHA:300751
Roifman Syndrome	Hip contracture, Decreased T cell activation, Short stature, Decreased circulating antibody level...	ORPHA:353298
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Right bundle branch block, Cardiac arrest, Paroxysmal supraventricular tachycardia, Congestive he...	OMIM:616117
Adult-Onset Nemaline Myopathy	Increased variability in muscle fiber diameter, Flexion contracture, Lower limb muscle weakness, ...	ORPHA:171442
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Diamond-Blackfan Anemia 19	Erythroid hypoplasia, Anemia, Steroid-responsive anemia	OMIM:618312
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Myofiber disarray, Restrictive cardiomyopathy, Type 1 fibers relatively smaller than type 2 fiber...	OMIM:619424
Muscular Dystrophy, Congenital, Megaconial Type	Muscular dystrophy, Congenital muscular dystrophy, Dilated cardiomyopathy, Myopathy, Facial palsy	OMIM:602541
Acute Myelomonocytic Leukemia	Anemia, Weight loss, Leukocytosis, Eosinophilia, Thrombocytopenia	ORPHA:517
Nail-Patella-Like Renal Disease	Hypertension	ORPHA:2613
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As...	ORPHA:247806
Atrial Standstill 1	Endocardial fibroelastosis, Atrial standstill, Premature atrial contractions, Atrial cardiomyopat...	OMIM:108770
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Patent ductus arteriosus, Anemia, Ventricular septal defect, Short stature, H...	ORPHA:163979
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	OMIM:601859
Cardiomyopathy, Familial Hypertrophic, 1	Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia	OMIM:192600
Cutaneous Neuroendocrine Carcinoma	Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo...	ORPHA:79140
Xeroderma Pigmentosum, Variant Type	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	OMIM:278750
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Distal Myopathy With Posterior Leg And Anterior Hand Involvement	Finger flexor weakness, Weakness of facial musculature, Intrinsic hand muscle atrophy, Foot dorsi...	ORPHA:63273
Cardiomyopathy, Familial Hypertrophic, 8	Sudden cardiac death, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, T-w...	OMIM:608751
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Cardiomyopathy, Familial Hypertrophic, 12	Sudden cardiac death, Reduced left ventricular endsystolic diameter, Ventricular septal hypertrop...	OMIM:612124
Muscular Dystrophy, Becker Type	Abnormal EKG, Muscular dystrophy, Calf muscle pseudohypertrophy, Arrhythmia, Cardiomyopathy	OMIM:300376
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Weakness of orbicularis oculi muscle, Abnormal mitochondria in muscle ti...	ORPHA:59135
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Dilated cardiomyopathy	OMIM:618097
Roifman Syndrome	Splenomegaly, Hip contracture, Ventricular septal defect, Short stature, Noncompaction cardiomyop...	OMIM:616651
Trimethylaminuria	Tachycardia, Hypertension	OMIM:602079
Myopathy, Distal, 7, Adult-Onset, X-Linked	Myofiber disarray, Increased variability in muscle fiber diameter, Fatty replacement of skeletal ...	OMIM:301075
Isobutyryl-Coa Dehydrogenase Deficiency	Pulmonic stenosis, Dilated cardiomyopathy	ORPHA:79159
Hb Bart'S Hydrops Fetalis	Polyhydramnios, Anemia, Hydrops fetalis, Pallor, Oligohydramnios, Pericarditis, Hepatomegaly, Abn...	ORPHA:163596
Desmoplastic Small Round Cell Tumor	Ovarian neoplasm, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancreas, Test...	ORPHA:83469
Left Ventricular Noncompaction 1	Sudden cardiac death, Ventricular septal defect, Ventricular arrhythmia, Left ventricular hypertr...	OMIM:604169
Forsythe-Wakeling Syndrome	Macrotia, Decreased body weight, Deeply set eye, Short stature, Nephrotic syndrome, Frontal bossi...	OMIM:613606
Coronary Artery Disease, Autosomal Dominant 2	Sudden cardiac death, Myocardial infarction, Hypertension	OMIM:610947
Yellow Nail Syndrome	Bronchiectasis, Sarcoma, Pleuritis, Biliary tract neoplasm, Renal neoplasm, Neoplasm, Recurrent r...	ORPHA:662
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent...	OMIM:613251
Iga Nephropathy, Susceptibility To, 3	Hypertension	OMIM:616818
Autoimmune Lymphoproliferative Syndrome, Type Iia	Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative...	OMIM:603909
Danon Disease	Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red...	OMIM:300257
Phosphoribosylpyrophosphate Synthetase Superactivity	Cardiomyopathy, Hypertension, Arrhythmia	ORPHA:3222
Glioma Susceptibility 9	Astrocytoma, Renal neoplasm, Glioma, Leukemia, Neoplasm of the lung	OMIM:616568
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Breast carcinoma, Actinic keratosis, Oropharyngeal squamous cell carcinoma	OMIM:614564
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ragg...	ORPHA:1349
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Bronchiectasis, Squamous cell carcinoma, Recurrent sinusitis, Recurrent sinopulmonary infections,...	OMIM:243700
Rhabdoid Tumor	Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system	ORPHA:69077
Autoimmune Hemolytic Anemia, Cold Type	Hemolytic anemia, Abnormal leukocyte morphology, Splenomegaly, Pallor	ORPHA:228312
Cinca Syndrome	Anemia, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Frontal bossing, Lympha...	OMIM:607115
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Poikilocytosis, Decreased mean corpuscular volume, Pallor, Growth delay, Hepatomegaly, El...	OMIM:615234
Cardiomyopathy, Familial Hypertrophic, 21	Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hypertrophic cardiomyopat...	OMIM:614676
Hemochromatosis, Type 2A	Cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:602390
Grange Syndrome	Aortic regurgitation, Hypertension, Ventricular septal defect	ORPHA:79094
Focal Segmental Glomerulosclerosis 5	Hypertension	OMIM:613237
Werner Syndrome	Breast carcinoma, Ovarian neoplasm, Thyroid carcinoma, Abnormal testis morphology, Sarcoma, Squam...	ORPHA:902
Iga Nephropathy, Susceptibility To, 2	Hypertension	OMIM:613944
Late-Onset Distal Myopathy, Markesbery-Griggs Type	Weakness of long finger extensor muscles, Limb-girdle muscle weakness, Wrist drop, Weakness of th...	ORPHA:98912
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia, Cardiomyopathy	OMIM:192605
Cystic Hamartoma Of Lung And Kidney	Hypertension	ORPHA:2111
Ovarian Fibrothecoma	Fibrosarcoma, Diffuse leiomyomatosis, Abnormality of the ovary, Pleural effusion, Ovarian fibroma	ORPHA:314478
Bardet-Biedl Syndrome 2	Bicuspid aortic valve, Dilated cardiomyopathy, Atrial septal defect	OMIM:615981
X-Linked Sideroblastic Anemia And Spinocerebellar Ataxia	Anemia, Intrauterine growth retardation	ORPHA:2802
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hypertension	OMIM:607832
Focal Segmental Glomerulosclerosis 2	Hypertension	OMIM:603965
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Granulocytopenia, Normo...	ORPHA:75564
Peripartum Cardiomyopathy	Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at...	ORPHA:563
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy	ORPHA:2229
Glomerulopathy With Fibronectin Deposits 2	Hypertension	OMIM:601894
Beta-Thalassemia	Anemia, Hepatitis, Skin ulcer, Pallor, Hypertrophic cardiomyopathy, Hepatomegaly, Cholelithiasis,...	ORPHA:848
Recessive Dystrophic Epidermolysis Bullosa Inversa	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:79409
Cardiomyopathy, Familial Restrictive, 3	Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Myocardial s...	OMIM:612422
Incessant Infant Ventricular Tachycardia	Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W...	ORPHA:45453
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertension, Congestive heart fail...	OMIM:540000
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Fibroma, Neoplasm of the stomach, Astrocytoma, Papilloma, Adenocarcinoma of t...	ORPHA:220460
Gardner Syndrome	Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea...	ORPHA:79665
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Hemoglobin H Disease	Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hepatomegaly, Splenomegaly	OMIM:613978
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Dilated cardiomyopathy	OMIM:619688
Primary Myelofibrosis	Anemia, Cachexia, Extramedullary hematopoiesis, Pancytopenia, Hepatosplenomegaly, Poikilocytosis,...	ORPHA:824
Exostoses, Multiple, Type Ii	Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Scapular exostoses, Pelvic bone exostoses, Rib exostoses, Multiple exostoses	OMIM:133700
Mevalonic Aciduria	Short stature, Dolichocephaly, Triangular face, Microcephaly, Low-set, posteriorly rotated ears, ...	ORPHA:29
Transient Erythroblastopenia Of Childhood	Transient erythroblastopenia, Anemia	OMIM:227050
Desmoid Tumor	Fibroma, Desmoid tumors, Neoplasm of the skin, Intestinal polyposis	ORPHA:873
Familial Adenomatous Polyposis 1	Fibroma, Multiple lipomas, Medulloblastoma, Astrocytoma, Duodenal polyposis, Odontoma, Adrenocort...	OMIM:175100
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Abnormal cardiac septum morphology, Short stature, Coarse facial features, Thrombocytopen...	ORPHA:3319
Transaldolase Deficiency	Patent ductus arteriosus, Patent foramen ovale, Splenomegaly, Hepatic fibrosis, Cirrhosis, Anemia...	OMIM:606003
Maternally-Inherited Diabetes And Deafness	Hypertension, Hypertrophic cardiomyopathy, Congestive heart failure, Arrhythmia	ORPHA:225
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Hypertrophic cardiomyopathy, Flexion contracture, Bradycardia, Dilated cardiomyopathy	OMIM:618815
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Hepatosplenomegaly, Eosinophilia,...	OMIM:619802
Combined Oxidative Phosphorylation Deficiency 16	Hypertrophic cardiomyopathy	OMIM:615395
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Muscular dy...	OMIM:608807
Arterial Calcification, Generalized, Of Infancy, 2	Reduced left ventricular ejection fraction, Sinus tachycardia, Cardiogenic shock, Hypertension, C...	OMIM:614473
Renal Failure, Progressive, With Hypertension	Hypertension	OMIM:161900
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	Muscle fiber splitting, Abnormal cardiac septum morphology, Abnormal left ventricular function, S...	ORPHA:437572
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Hepatosplenomegaly, Epistaxi...	OMIM:612840
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial fibrillation, Paroxysmal atrial...	OMIM:613874
Cardiomyopathy, Dilated, 1S	Sudden cardiac death, Pulmonary arterial hypertension, Interstitial cardiac fibrosis, Reduced lef...	OMIM:613426
Distal Nebulin Myopathy	Weakness of long finger extensor muscles, Fatty replacement of skeletal muscle, Weakness of the i...	ORPHA:399103
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Neutrophilia, Failure to thrive, Eosinophi...	OMIM:226990
Muscular Dystrophy, Cardiac Type	Muscular dystrophy, Cardiomyopathy, Abnormal EKG	OMIM:309930
Immunodeficiency 103, Susceptibility To Fungal Infections	Hypereosinophilia, Abnormal natural killer cell count, Abnormal proportion of CD8-positive T cell...	OMIM:212050
Chromosome 15Q26-Qter Deletion Syndrome	Abnormal cardiac septum morphology, Short stature, Small for gestational age, Wide nasal bridge, ...	OMIM:612626
Cardiomyopathy, Familial Hypertrophic, 16	Sudden cardiac death, Reduced left ventricular ejection fraction, Syncope, Left ventricular hyper...	OMIM:613838
Myalgia-Eosinophilia Syndrome Associated With Tryptophan	Flat occiput, Lymphopenia, Eosinophilia	ORPHA:2582
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy	OMIM:609016
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers, Muscu...	OMIM:612999
Multiple Endocrine Neoplasia, Type Iv	Parathyroid adenoma, Renal angiomyolipoma, Pancreatic endocrine tumor, Pituitary adenoma, Carcino...	OMIM:610755
Liddle Syndrome 3	Hypertension	OMIM:618126
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma, Multinodular goiter	OMIM:618373
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma	ORPHA:79410
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	T lymphocytopenia, Increased circulating antibody level, Lymphocytosis, Decreased proportion of C...	ORPHA:169154
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Abnormal mitochondria in muscle tissue, Dilated cardiomyopathy, Left ventric...	OMIM:252011
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Ventricular septal defect, Hypertension, Arrhythmia	OMIM:617021
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Hypersplenism, Splenomegaly, Pancytopenia, Decreased helper T cell proportion	OMIM:183350
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Breast carcinoma, Gastric diverticulum, Colorectal polyposis, Bladder ...	ORPHA:157798
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Sideroblastic anemia, Elevated hepatic transaminase, Pallor, Hypertrophic cardiomyopathy, Growth ...	OMIM:613561
Moyamoya Disease With Early-Onset Achalasia	Raynaud phenomenon, Hypertension	ORPHA:401945
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, EMG: myopathic abnormalities, Type 1 muscle fiber predominance, Nemaline ...	OMIM:161800
Li-Fraumeni Syndrome	Acute myeloid leukemia, Neoplasm of the gastrointestinal tract, Neoplasm of the central nervous s...	ORPHA:524
Immunodeficiency 48	Panhypogammaglobulinemia, Failure to thrive, Absence of CD8-positive T cells, Hepatomegaly, Splen...	OMIM:269840
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
Juvenile Temporal Arteritis	Cerebral ischemia, Vasculitis, Leukocytosis, Eosinophilia	ORPHA:26137
Distal Myotilinopathy	Multiple joint contractures, Abnormal muscle fiber myotilin, EMG: myopathic abnormalities, Distal...	ORPHA:98911
Ethanolaminosis	Cardiomegaly	OMIM:227150
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant	Coarse facial features, Craniosynostosis, Cutaneous abscess, Frontal bossing, Hypertelorism, Eosi...	OMIM:147060
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Nonspherocytic hemolytic anemia, Jaundice, Splenomegaly	OMIM:206400
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death, Neutropenia, Eosinophilia	OMIM:257100
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Systemic Mastocytosis With Associated Hematologic Neoplasm	Hypotension, Acute myeloid leukemia, Myeloid leukemia, Increased basophil count, Chronic lymphati...	ORPHA:98849
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Telangiectases producing 'marbled' skin	OMIM:206570
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Atrial Fibrillation, Familial, 14	Prolonged PR interval, Paroxysmal atrial fibrillation, Hypertension, ST segment elevation	OMIM:615378
Coccidioidomycosis	Abnormality of the liver, Renal insufficiency, Cerebral ischemia, Granuloma, Broad skull, Periton...	ORPHA:228123
Mevalonic Aciduria	Anemia, Elevated urine mevalonic acid level, Short stature, Increased circulating IgD level, Doli...	OMIM:610377
Birt-Hogg-Dube Syndrome	Multiple lipomas, Fibrofolliculoma, Large intestinal polyposis, Renal cell carcinoma, Renal neopl...	OMIM:135150
Glomerulopathy With Fibronectin Deposits 1	Hypertension	OMIM:137950
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Weakness of ...	OMIM:615959
Familial Multinodular Goiter	Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol...	ORPHA:276399
Immunodeficiency 88	Eosinophilia	OMIM:619630
X-Linked Sideroblastic Anemia	Anemia, Elevated hepatic transaminase, Splenomegaly, Pallor	ORPHA:75563
Porokeratosis	Squamous cell carcinoma of the skin	ORPHA:79358
Dyskinesia With Orofacial Involvement, Autosomal Dominant	Dilated cardiomyopathy, Facial myokymia, Congestive heart failure, Limb hypertonia	OMIM:606703
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Failure to thrive in infancy, Hypoplasia of the thymus, Decreased proportion of CD4-positive help...	OMIM:617241
Osteopetrosis, Autosomal Recessive 5	Anemia, Short stature, Limb hypertonia, Ascites, Extramedullary hematopoiesis, Pancytopenia, Hepa...	OMIM:259720
Chromomycosis	Squamous cell carcinoma, Multiple cutaneous malignancies, Abnormal lung morphology	ORPHA:182
Cardiomyopathy, Familial Hypertrophic, 27	Endocardial fibroelastosis, Impaired myocardial contractility, Left ventricular diastolic dysfunc...	OMIM:618052
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Liddle Syndrome	Hypertension, Cerebral ischemia, Arrhythmia	ORPHA:526
Mt-Atp6-Related Mitochondrial Spastic Paraplegia	Supraventricular arrhythmia, Distal lower limb muscle weakness, Leg muscle stiffness, Cardiomyopathy	ORPHA:320360
Lessel-Kubisch Syndrome	Hypertension	OMIM:618681
Gaucher Disease, Perinatal Lethal	Splenomegaly, Anemia, Decreased body weight, Low-set ears, Microtia, Ascites, Arthrogryposis mult...	OMIM:608013
Generalized Eruptive Histiocytosis	Hypereosinophilia, Lymphadenopathy, Histiocytosis, Leukemia	ORPHA:157991
Ichthyosis-Prematurity Syndrome	Eosinophilia	ORPHA:88621
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Recurrent pancreatitis, Splenomegaly	OMIM:118830
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Bicuspid aortic valve, Hypertension, Atrial septal defect	OMIM:613355
Fanconi Anemia, Complementation Group P	Squamous cell carcinoma, Cryptorchidism	OMIM:613951
3-Methylglutaconic Aciduria, Type V	Sudden cardiac death, Diaphragmatic eventration, Dilated cardiomyopathy, Congestive heart failure...	OMIM:610198
Atrial Standstill	Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa...	ORPHA:1344
Mulibrey Nanism	Pericardial constriction, Short stature, Wide nasal bridge, Dolichocephaly, Congestive heart fail...	OMIM:253250
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Microcephaly, Hepatomegaly, Thrombocytopenia, Intrauterine growth retar...	ORPHA:1980
Morbid Obesity And Spermatogenic Failure	Myocardial infarction, Congestive heart failure, Hypertension	OMIM:615703
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
Moyamoya Disease 6 With Or Without Achalasia	Hypertension, Raynaud phenomenon, Achalasia, Ischemic stroke	OMIM:615750
Polycystic Kidney Disease 5	Hypertension	OMIM:617610
Dominant Beta-Thalassemia	Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosplenomegaly, Splenomegaly, High-o...	ORPHA:231226
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Hypertension	OMIM:605115
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods	Global systolic dysfunction, Nemaline bodies, Limb muscle weakness, Cardiomyopathy	OMIM:606842
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Myopathy, Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy	OMIM:255100
Hereditary Spherocytosis	Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolytic crises, Restri...	ORPHA:822
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Muscular dystrophy, Limb-girdle muscle weakness, Flexion contracture, Cardiomyopathy	OMIM:609308
Immunodeficiency 15A	Decreased proportion of CD8-positive T cells, Cutaneous abscess, Decreased proportion of memory B...	OMIM:618204
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Hypertension, Ischemic stroke, Cerebral hemorrhage, Dilated cardiomyopathy	ORPHA:280679
Pituitary Adenoma 1, Multiple Types	Left ventricular hypertrophy, Hypertension, Cardiomyopathy	OMIM:102200
Mitochondrial Dna Depletion Syndrome 11	Generalized amyotrophy, Dilated cardiomyopathy, Arrhythmia, Proximal amyotrophy, Ragged-red muscl...	OMIM:615084
Naxos Disease	Sudden cardiac death, Right bundle branch block, Right ventricular cardiomyopathy, Abnormal morph...	OMIM:601214
Tibial Muscular Dystrophy	Increased variability in muscle fiber diameter, Weakness of long finger extensor muscles, Peronea...	ORPHA:609
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Sudden cardiac death, Right ventricular cardiomyopathy, Presyncope, Congestive heart failure, Pre...	OMIM:604400
Papillon-Lefèvre Syndrome	Squamous cell carcinoma, Recurrent respiratory infections, Melanoma, Neoplasm of the skin	ORPHA:678
Iga Nephropathy, Susceptibility To, 1	Hypertension	OMIM:161950
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Lymphadenopathy, Hearing impairment, Microcephaly, Hepatomegaly, Cardi...	ORPHA:858
Muscular Dystrophy, Duchenne Type	Knee flexion contracture, Flexion contracture, Abnormal EKG, Calf muscle hypertrophy, Muscular dy...	OMIM:310200
Chromosome 3Pter-P25 Deletion Syndrome	Brachycephaly, Atrioventricular canal defect, Short stature, Wide nasal bridge, Small for gestati...	OMIM:613792
Legius Syndrome	Macrocephaly, Triangular face, Supravalvar pulmonary stenosis, Hypertelorism, Low-set ears, Poste...	OMIM:611431
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Abnormal cardiac septum morphology, Short stature, Microtia, Ab...	OMIM:301022
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11	Small for gestational age, Facial asymmetry, Triangular face, Frontal bossing, Secondary microcep...	ORPHA:231147
Beta-Thalassemia Major	Hepatocellular carcinoma, Hypoplasia of the musculature, Hepatosplenomegaly, Hepatomegaly, Spleno...	ORPHA:231214
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Abnormally low T cell receptor excision circle level, Hypertelorism, Eosinophilia	OMIM:618092
Beta-Thalassemia Intermedia	Cholelithiasis, Pulmonary arterial hypertension, Cirrhosis, Proximal tubulopathy, Abnormality of ...	ORPHA:231222
Myeloproliferative Disorder, Chronic, With Eosinophilia	Eosinophilia, Myeloproliferative disorder	OMIM:131440
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:98855
Atrioventricular septal defect 3	Pulmonary arterial hypertension, Atrioventricular canal defect, Inlet ventricular septal defect, ...	OMIM:600309
Alpha-B Crystallin-Related Late-Onset Myopathy	Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Autophagic vacuoles,...	ORPHA:399058
Cardiomyopathy, Familial Hypertrophic, 2	Right bundle branch block, Reduced left ventricular ejection fraction, Angina pectoris, Ventricul...	OMIM:115195
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Neoplasm of the gastrointestinal tract, Sarcoma, Neoplasm of the rectum,...	ORPHA:44890
Macrosomia Adiposa Congenita	Obesity, Large for gestational age, Eosinophilia	OMIM:248100
Sudden Cardiac Failure, Infantile	Sudden cardiac death, Congestive heart failure, Myocardial fibrosis, Hypertrophic cardiomyopathy,...	OMIM:617222
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Congenital Myopathy 4A, Autosomal Dominant	Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ...	OMIM:255310
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Cardiomyopathy	OMIM:619647
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir...	ORPHA:331206
Halothane Hepatitis	Hepatitis, Jaundice, Viral hepatitis, Eosinophilia, Obesity	OMIM:234350
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Amyotrophy of ankle musculature, Joint contracture of the h...	ORPHA:399086
Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Sudden cardiac death, Absent muscle fiber emerin, Supraventricular arrhythmia, Elbow flexion cont...	ORPHA:98853
Myopathy, X-Linked, With Postural Muscle Atrophy	Increased variability in muscle fiber diameter, Achilles tendon contracture, EMG: myopathic abnor...	OMIM:300696
Hyper-Ige Recurrent Infection Syndrome 4B, Autosomal Recessive	Scaphocephaly, Joint contracture of the hand, Macroglossia, Increased circulating IgE level, Eosi...	OMIM:618523
Short Stature, Microcephaly, And Endocrine Dysfunction	Anemia, Sensorineural hearing impairment, Deeply set eye, Short stature, Dilated cardiomyopathy, ...	OMIM:616541
Combined Oxidative Phosphorylation Deficiency 23	Cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:616198
Focal Segmental Glomerulosclerosis 1	Hypertension	OMIM:603278
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Progressive microcephaly, Death in childhood, Hepatosplenomegaly	OMIM:610329
Fetal Parvovirus Syndrome	Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Ascites, Thrombocytopenia, Increased nuchal...	ORPHA:295
Cardiomyopathy, Familial Hypertrophic, 10	Sudden cardiac death, Supraventricular tachycardia, Systolic anterior motion of the mitral valve,...	OMIM:608758
Takayasu Arteritis	Pulmonary arterial hypertension, Cerebral ischemia, Abnormal aortic valve morphology, Hypertensio...	ORPHA:3287
3-Methylglutaconic Aciduria Type 4	3-Methylglutaconic aciduria, Failure to thrive, Microcephaly, Thrombocytopenia, Hearing impairmen...	ORPHA:67048
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Patent ductus arteriosus, Patent foramen ovale, Double outlet right ventricle, Deeply set eye, Ve...	OMIM:618316
Omenn Syndrome	Anemia, Nephrotic syndrome, Failure to thrive, Lymphadenopathy, Eosinophilia, Hepatomegaly, Leuko...	ORPHA:39041
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
Congenital Muscular Dystrophy, Fukuyama Type	Camptodactyly of finger, Flexion contracture, Muscular dystrophy, Dilated cardiomyopathy, Myopath...	ORPHA:272
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, T-wave inversion, Ventricular arrhythmia, Syncope, Ventricular ...	OMIM:611528
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Nephrotic syndrome, Lymphocytosis, Decreased propo...	ORPHA:911
Congenital Disorder Of Glycosylation, Type Iik	Hemolytic-uremic syndrome, Short stature, Midface retrusion, Failure to thrive, Secondary microce...	OMIM:614727
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Schimke Immunoosseous Dysplasia	Wide nasal bridge, Thrombocytopenia, Disproportionate short-trunk short stature, Transient ischem...	OMIM:242900
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3	Hypertrophic cardiomyopathy	OMIM:614053
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Mitral regurgitation, Dilated cardiomyopathy	OMIM:212112
Immunodeficiency 7	Hypereosinophilia, Failure to thrive, Lymphadenopathy, Autoimmune hemolytic anemia, Hepatomegaly,...	OMIM:615387
Silver-Russell Syndrome 4	Mild microcephaly, Decreased body weight, Birth length less than 3rd percentile, Small for gestat...	OMIM:618907
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Pgm3-Cdg	Conductive hearing impairment, T lymphocytopenia, Reduced antigen-specific T cell proliferation, ...	ORPHA:443811
Wiskott-Aldrich Syndrome 2	Defective T cell proliferation, Thrombocytopenia, Decreased proportion of CD8-positive T cells, R...	OMIM:614493
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Abnormal fac...	OMIM:618116
Breath-Holding Spells	Iron deficiency anemia, Pallor	OMIM:607578
Triose Phosphate-Isomerase Deficiency	Hypertrophic cardiomyopathy, Skeletal muscle atrophy	ORPHA:868
Giant Axonal Neuropathy 2, Autosomal Dominant	Distal amyotrophy, Cardiomyopathy	OMIM:610100
Nevoid Hypermelanosis, Linear And Whorled	Eosinophilia	OMIM:614323
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Microcephaly, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, ...	OMIM:615010
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Ventricular tachycardia, Dilated cardiomyopathy	OMIM:600649
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Mitral valve prolapse, Mitral regurgitation, Hypertension	OMIM:173900
Fanconi Anemia, Complementation Group I	Patent foramen ovale, Vesicoureteral reflux, Conductive hearing impairment, Decreased body weight...	OMIM:609053
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertension	ORPHA:71529
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Pseudohypoaldosteronism, Type Iia	Hypertension	OMIM:145260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Knee flexion contracture, Increased variability in muscle fiber diameter, Muscular dystrophy, Wol...	OMIM:619566
Weill-Marchesani Syndrome 1	Brachycephaly, Patent ductus arteriosus, Ventricular septal defect, Short stature, Shallow orbits...	OMIM:277600
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia, Sensorineural hearing impairment	ORPHA:71289
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6	Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy	OMIM:604401
Alazami Syndrome	Decreased body weight, Deeply set eye, Wide nasal bridge, Triangular face, Severe short stature, ...	OMIM:615071
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly, Hepatomegaly	OMIM:606445
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Hypertension, Cardiomyopathy	ORPHA:767
Silver-Russell Syndrome 5	Birth length less than 3rd percentile, Small for gestational age, Relative macrocephaly, Triangul...	OMIM:618908
Al Kaissi Syndrome	Brachycephaly, Decreased head circumference, Decreased body weight, Short stature, Wide nasal bri...	OMIM:617694
Cardiomyopathy, Familial Hypertrophic, 13	Right bundle branch block, Reduced left ventricular ejection fraction, Concentric hypertrophic ca...	OMIM:613243
Silver-Russell Syndrome Due To 11P15 Microduplication	Short stature, Small for gestational age, Relative macrocephaly, Midface retrusion, Facial asymme...	ORPHA:231144
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1	Flexion contracture, Lower limb muscle weakness, Muscular dystrophy, Muscle eosinophilia, Myositi...	OMIM:253600
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Angina pectoris, Myocardial fibrosis, Hypertrophic cardiomyopathy, ...	OMIM:613873
Vici Syndrome	T lymphocytopenia, Decreased proportion of CD4-positive helper T cells, Postnatal growth retardat...	OMIM:242840
Dk1-Cdg	Interstitial cardiac fibrosis, Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hy...	ORPHA:91131
Leishmaniasis	Leukopenia, Anemia, Abnormal macrophage morphology, Skin ulcer, Elevated hepatic transaminase, Pa...	ORPHA:507
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Coombs-positive hemolytic anemia, Autoimmune thrombocytopenia, Failure to thri...	OMIM:304790
Fanconi Anemia, Complementation Group G	Anemia, Growth delay, Microcephaly, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Squamous cell carcinoma	OMIM:226600
Legius Syndrome	Nephroblastoma, Multiple lipomas, Ovarian neoplasm, Neoplasm of the central nervous system, Neuro...	ORPHA:137605
Cardiomyopathy, Familial Hypertrophic, 6	Myofiber disarray, Wolff-Parkinson-White syndrome, Syncope, Congestive heart failure, Asymmetric ...	OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 11	Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris...	OMIM:612098
Adrenocortical Carcinoma	Lung adenocarcinoma, Adrenocorticotropic hormone deficiency, Adrenocortical carcinoma	ORPHA:1501
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Calf muscle hypertrophy, Congenital muscular dystrophy, Achilles tendon contracture, Macroglossia...	OMIM:607155
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
Opsoclonus-Myoclonus Syndrome	Breast carcinoma, Melanoma, Small cell lung carcinoma, Neoplasm, Ovarian teratoma, Neuroblastoma,...	ORPHA:1183
Weill-Marchesani Syndrome 2	Brachycephaly, Patent ductus arteriosus, Ventricular septal defect, Short stature, Thickened heli...	OMIM:608328
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	T lymphocytopenia, Elbow flexion contracture, Hepatomegaly, Decreased proportion of CD4-positive ...	ORPHA:508533
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Increased circulating antibody level, Decreased proportion of CD3-positive T cells, Hepatitis, Ly...	ORPHA:169160
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Dilated cardiomyopathy, Arthrogryposis multiplex congenita, Ventricular ...	OMIM:607598
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15	Diastasis recti, Decreased body weight, Short stature, Small for gestational age, Relative macroc...	ORPHA:231140
Myopathy, Myofibrillar, 4	Muscle fiber splitting, Autophagic vacuoles, EMG: myopathic abnormalities, Myofibrillar myopathy,...	OMIM:609452
Triokinase And Fmn Cyclase Deficiency Syndrome	Reduced systolic function, Dilated cardiomyopathy	OMIM:618805
Anemia, Sideroblastic, 1	Sideroblastic anemia, Hypochromic microcytic anemia, Macrocytic anemia, Anemic pallor, Anemia of ...	OMIM:300751
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Hepatosplenomegaly, Progressive microcephaly, Hepatomegaly, Low-set e...	OMIM:610333
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Arterial Calcification, Generalized, Of Infancy, 1	Hypertension, Congestive heart failure, Dilated cardiomyopathy, Myocardial infarction, Cardiomegaly	OMIM:208000
Neonatal Lupus Erythematosus	Anemia, Abnormality of the liver, Neutropenia, Hemolytic anemia, Macrocephaly, Dilated cardiomyop...	ORPHA:398124
Aicardi Syndrome	Hemangioma, Carcinoma, Teratoma, Hepatoblastoma, Recurrent pneumonia, Lipoma, Metastatic angiosar...	OMIM:304050
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Death in infancy, Decreased circulating antibody level, Coarse facial features, Lymphopenia, Disp...	OMIM:617425
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome	Sudden cardiac death, Torsade de pointes, Polymorphic and polytopic ventricular extrasystoles, Le...	OMIM:115000
Primary Membranoproliferative Glomerulonephritis	Myocardial infarction, Hypertension	ORPHA:54370
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Decreased body weight, Sensorineural hearing impairment, Short stature, Deeply set eye, Wide nasa...	OMIM:618342
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Familial Cutaneous Collagenoma	Congestive heart failure, Angina pectoris, Atrial septal defect, Cardiomyopathy	ORPHA:53296
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly, Macrotia, Triangular face, Short nose, Skeletal muscle atrophy, Microcephaly, Low-...	OMIM:615419
Familial Cervical Artery Dissection	Cerebral ischemia, Transient ischemic attack, Facial palsy, Hypertension, Subarachnoid hemorrhage...	ORPHA:36382
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Mitral valve prolapse, Left ventricular systolic dysfunction, Dilated cardiomyopathy	OMIM:145350
Cystic Echinococcosis	Peritoneal abscess, Abnormality of the pancreas, Weight loss, Cholestatic liver disease, Increase...	ORPHA:400
Fanconi Anemia, Complementation Group C	Anemia, Flexion contracture, Ventricular septal defect, Short stature, Leukemia, Small for gestat...	OMIM:227645
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Wrist flexion contracture, Muscle fiber splitting, Flexion contracture, Quadriceps muscle atrophy...	ORPHA:206549
Hemochromatosis Type 2	Dilated cardiomyopathy	ORPHA:79230
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive	Sterile abscess, Cutaneous abscess, Atrial septal defect, Decreased circulating IgA level, Eosino...	OMIM:618282
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Generalized amyotrophy, Dilated cardiomyopathy, Weakness of facial musculature, Myopathy, Arrhyth...	ORPHA:352447
Pelger-Huet Anomaly	Ventricular septal defect, Macrocephaly, Hyposegmentation of neutrophil nuclei, Abnormality of ne...	OMIM:169400
Kimura Disease	Lymphadenopathy, Follicular hyperplasia, Increased circulating IgE level, Eosinophilia	ORPHA:482
Eosinophilic Gastroenteritis	Anemia, Weight loss, Leukocytosis, Eosinophilia, Ascites, Hematochezia	ORPHA:2070
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Short stature, Bone-marrow foam cells, Hepatomegaly, Thrombocytop...	OMIM:607616
Osteopetrosis, Autosomal Recessive 2

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