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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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